6548[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 1333120	NM_003047.5(SLC9A1):c.*2A>G	SLC9A1	Single nucleotide variant (3 prime UTR variant +1 more)	Lichtenstein-Knorr syndrome +1 more	GBenign
Select item 3320258	NM_003047.5(SLC9A1):c.2420G>A (p.Gly807Glu)	SLC9A1 (G807E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3343342	NM_003047.5(SLC9A1):c.2401C>T (p.His801Tyr)	SLC9A1 (H801Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571792	NM_003047.5(SLC9A1):c.2399C>T (p.Pro800Leu)	SLC9A1 (P800L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069991	NM_003047.5(SLC9A1):c.2397C>G (p.Gly799=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2021002	NM_003047.5(SLC9A1):c.2393C>T (p.Pro798Leu)	SLC9A1 (P798L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917658	NM_003047.5(SLC9A1):c.2393C>G (p.Pro798Arg)	SLC9A1 (P798R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2198215	NM_003047.5(SLC9A1):c.2371A>G (p.Ile791Val)	SLC9A1 (I791V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2070633	NM_003047.5(SLC9A1):c.2357C>T (p.Pro786Leu)	SLC9A1 (P786L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1696919	NM_003047.5(SLC9A1):c.2352C>A (p.Asp784Glu)	SLC9A1 (D784E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2740210	NM_003047.5(SLC9A1):c.2343G>A (p.Ala781=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638552	NM_003047.5(SLC9A1):c.2319A>C (p.Gly773=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1991339	NM_003047.5(SLC9A1):c.2293C>T (p.Arg765Trp)	SLC9A1 (R765W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2457247	NM_003047.5(SLC9A1):c.2275G>A (p.Asp759Asn)	SLC9A1 (D759N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2047117	NM_003047.5(SLC9A1):c.2274C>T (p.Asp758=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2207658	NM_003047.5(SLC9A1):c.2272G>A (p.Asp758Asn)	SLC9A1 (D758N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2069505	NM_003047.5(SLC9A1):c.2271C>T (p.Asp757=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3165675	NM_003047.5(SLC9A1):c.2266G>C (p.Glu756Gln)	SLC9A1 (E756Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1933229	NM_003047.5(SLC9A1):c.2266G>A (p.Glu756Lys)	SLC9A1 (E756K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2049412	NM_003047.5(SLC9A1):c.2259G>A (p.Glu753=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2406178	NM_003047.5(SLC9A1):c.2237G>A (p.Arg746Gln)	SLC9A1 (R746Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229408	NM_003047.5(SLC9A1):c.2236C>T (p.Arg746Trp)	SLC9A1 (R746W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1998727	NM_003047.5(SLC9A1):c.2227G>C (p.Gly743Arg)	SLC9A1 (G743R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2277284	NM_003047.5(SLC9A1):c.2208G>C (p.Glu736Asp)	SLC9A1 (E736D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1333121	NM_003047.5(SLC9A1):c.2205A>G (p.Glu735=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	Lichtenstein-Knorr syndrome +1 more	GBenign
Select item 2055457	NM_003047.5(SLC9A1):c.2181C>T (p.Pro727=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1957599	NM_003047.5(SLC9A1):c.2162C>T (p.Pro721Leu)	SLC9A1 (P721L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577758	NM_003047.5(SLC9A1):c.2159A>G (p.Asp720Gly)	SLC9A1 (D720G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065968	NM_003047.5(SLC9A1):c.2136G>A (p.Glu712=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 806102	NM_003047.5(SLC9A1):c.2129C>T (p.Pro710Leu)	SLC9A1 (P710L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1975655	NM_003047.5(SLC9A1):c.2110+17G>T	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901359	NM_003047.5(SLC9A1):c.2110+13C>T	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 760592	NM_003047.5(SLC9A1):c.2103C>T (p.Ile701=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2274285	NM_003047.5(SLC9A1):c.2101A>G (p.Ile701Val)	SLC9A1 (I701V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2097931	NM_003047.5(SLC9A1):c.2092C>A (p.Arg698=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 715703	NM_003047.5(SLC9A1):c.2086A>G (p.Met696Val)	SLC9A1 (M696V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1929562	NM_003047.5(SLC9A1):c.2070_2071delinsTT (p.Lys690Asn)	SLC9A1 (K690N)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3057630	NM_003047.5(SLC9A1):c.2062G>T (p.Ala688Ser)	SLC9A1 (A688S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054032	NM_003047.5(SLC9A1):c.2055G>A (p.Thr685=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	SLC9A1-related disorder	GLikely benign
Select item 1895631	NM_003047.5(SLC9A1):c.2038-18G>A	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907705	NM_003047.5(SLC9A1):c.2038-20C>T	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988102	NM_003047.5(SLC9A1):c.2037+19T>G	SLC9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683602	NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2291203	NM_003047.5(SLC9A1):c.2020C>T (p.Arg674Trp)	SLC9A1 (R674W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739165	NM_003047.5(SLC9A1):c.1977C>T (p.Tyr659=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 763273	NM_003047.5(SLC9A1):c.1968A>C (p.Ala656=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2235726	NM_003047.5(SLC9A1):c.1967C>G (p.Ala656Gly)	SLC9A1 (A656G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1952469	NM_003047.5(SLC9A1):c.1939C>T (p.Arg647Trp)	SLC9A1 (R647W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3392748	NM_003047.5(SLC9A1):c.1936-1G>A	SLC9A1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2180977	NM_003047.5(SLC9A1):c.1936-5_1936-4inv	SLC9A1	Inversion (intron variant)	not provided	GUncertain significance
Select item 1295543	NM_003047.5(SLC9A1):c.1936-4A>G	SLC9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988680	NM_003047.5(SLC9A1):c.1936-16G>A	SLC9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1931328	NM_003047.5(SLC9A1):c.1936-17C>T	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912174	NM_003047.5(SLC9A1):c.1935+11G>A	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2331034	NM_003047.5(SLC9A1):c.1911C>A (p.Asn637Lys)	SLC9A1 (N637K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2192601	NM_003047.5(SLC9A1):c.1895G>A (p.Arg632His)	SLC9A1 (R632H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2096042	NM_003047.5(SLC9A1):c.1894C>T (p.Arg632Cys)	SLC9A1 (R632C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063483	NM_003047.5(SLC9A1):c.1890G>T (p.Glu630Asp)	SLC9A1 (E630D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2404939	NM_003047.5(SLC9A1):c.1849G>A (p.Glu617Lys)	SLC9A1 (E617K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740542	NM_003047.5(SLC9A1):c.1848C>G (p.Ser616=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1305024	NM_003047.5(SLC9A1):c.1830C>G (p.His610Gln)	SLC9A1 (H610Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 713880	NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	Lichtenstein-Knorr syndrome +1 more	GBenign/Likely benign
Select item 726749	NM_003047.5(SLC9A1):c.1821-5C>T	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3377974	NM_003047.5(SLC9A1):c.1818G>C (p.Met606Ile)	SLC9A1 (M606I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960534	NM_003047.5(SLC9A1):c.1809C>T (p.Thr603=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 777921	NM_003047.5(SLC9A1):c.1807_1809del (p.Thr603del)	SLC9A1 (T603del)	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 1930100	NM_003047.5(SLC9A1):c.1777G>T (p.Gly593Cys)	SLC9A1 (G593C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 757327	NM_003047.5(SLC9A1):c.1773C>T (p.Ser591=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2880504	NM_003047.5(SLC9A1):c.1764G>C (p.Leu588=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638553	NM_003047.5(SLC9A1):c.1758C>T (p.Ile586=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3042509	NM_003047.5(SLC9A1):c.1725C>G (p.Ala575=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	SLC9A1-related disorder	GLikely benign
Select item 2993068	NM_003047.5(SLC9A1):c.1725C>A (p.Ala575=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956768	NM_003047.5(SLC9A1):c.1713C>G (p.Pro571=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1305239	NM_003047.5(SLC9A1):c.1695C>T (p.Gly565=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2143760	NM_003047.5(SLC9A1):c.1647-15TCC[4]	SLC9A1	Microsatellite (intron variant)	not provided	GBenign
Select item 742212	NM_003047.5(SLC9A1):c.1647-15TCC[2]	SLC9A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1908294	NM_003047.5(SLC9A1):c.1646+13C>A	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413268	NM_003047.5(SLC9A1):c.1632C>T (p.His544=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999786	NM_003047.5(SLC9A1):c.1626T>C (p.Gly542=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 520779	NM_003047.5(SLC9A1):c.1585C>T (p.His529Tyr)	SLC9A1 (H529Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 738288	NM_003047.5(SLC9A1):c.1576-7C>G	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500670	NM_003047.5(SLC9A1):c.1556A>G (p.Asn519Ser)	SLC9A1 (N519S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416337	NM_003047.5(SLC9A1):c.1542G>A (p.Thr514=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3165673	NM_003047.5(SLC9A1):c.1541C>T (p.Thr514Met)	SLC9A1 (T514M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501418	NM_003047.5(SLC9A1):c.1522G>C (p.Val508Leu)	SLC9A1 (V508L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 785789	NM_003047.5(SLC9A1):c.1486-8dup	SLC9A1	Duplication (intron variant)	not provided	GLikely benign
Select item 725555	NM_003047.5(SLC9A1):c.1486-4C>G	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879310	NM_003047.5(SLC9A1):c.1486-16C>G	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3234223	NM_003047.5(SLC9A1):c.1485+57G>A	SLC9A1, LOC126805673	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130054	NM_003047.5(SLC9A1):c.1473C>T (p.Thr491=)	LOC126805673, SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1305279	NM_003047.5(SLC9A1):c.1424C>G (p.Pro475Arg)	LOC126805673, SLC9A1 (P475R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2166502	NM_003047.5(SLC9A1):c.1407G>A (p.Leu469=)	LOC126805673, SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 208464	NM_003047.5(SLC9A1):c.1391C>T (p.Ser464Phe)	LOC126805673, SLC9A1 (S464F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663414	NM_003047.5(SLC9A1):c.1379C>A (p.Ala460Asp)	LOC126805673, SLC9A1 (A460D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 782731	NM_003047.5(SLC9A1):c.1356C>T (p.Ile452=)	LOC126805673, SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign

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