2065[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 1235907	NC_000012.12:g.56079996G>A	ERBB3	Single nucleotide variant	not provided	GBenign
Select item 1292949	NC_000012.12:g.56080024T>C	ERBB3	Single nucleotide variant	not provided	GBenign
Select item 1283687	NC_000012.12:g.56080106T>A	ERBB3	Single nucleotide variant	not provided	GBenign
Select item 1316548	NM_001005915.1(ERBB3):c.-193A>T	ERBB3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 712394	NM_001982.4(ERBB3):c.78G>A (p.Gln26=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1293095	NM_001982.4(ERBB3):c.82+213T>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182433	NM_001982.4(ERBB3):c.83-46G>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 806898	NM_001982.4(ERBB3):c.89C>T (p.Pro30Leu)	ERBB3 (P30L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2441279	NM_001982.4(ERBB3):c.121G>A (p.Asp41Asn)	ERBB3 (D41N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2370345	NM_001982.4(ERBB3):c.124G>A (p.Ala42Thr)	ERBB3 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582287	NM_001982.4(ERBB3):c.180G>A (p.Met60Ile)	ERBB3 (M60I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 591496	NM_001982.4(ERBB3):c.221T>G (p.Leu74Arg)	ERBB3 (L74R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749701	NM_001982.4(ERBB3):c.231G>A (p.Leu77=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1255390	NM_001982.4(ERBB3):c.234+8A>T	ERBB3	Single nucleotide variant (intron variant)	Lethal congenital contracture syndrome 2 +2 more	GBenign
Select item 1286166	NM_001982.4(ERBB3):c.234+316A>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295721	NM_001982.4(ERBB3):c.235-172G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270811	NM_001982.4(ERBB3):c.235-165A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221690	NM_001982.4(ERBB3):c.235-121A>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225126	NM_001982.4(ERBB3):c.235-97A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 740142	NM_001982.4(ERBB3):c.258T>C (p.Tyr86=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287326	NM_001982.4(ERBB3):c.290T>C (p.Leu97Pro)	ERBB3 (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582246	NM_001982.4(ERBB3):c.307C>T (p.Arg103Cys)	ERBB3 (R103C)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 376411	NM_001982.4(ERBB3):c.310G>T (p.Val104Leu)	ERBB3 (V104L)	Single nucleotide variant (missense variant)	Breast neoplasm +8 more	GLikely pathogenic OOncogenic
Select item 376410	NM_001982.4(ERBB3):c.310G>A (p.Val104Met)	ERBB3 (V104M)	Single nucleotide variant (missense variant)	Breast neoplasm +9 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 2397712	NM_001982.4(ERBB3):c.394C>T (p.Arg132Cys)	ERBB3 (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025785	NM_001982.4(ERBB3):c.421+110T>A	ERBB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 623811	NM_001982.4(ERBB3):c.421+123G>T	ERBB3 (A182S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3051220	NM_001982.4(ERBB3):c.421+129T>G	ERBB3	Single nucleotide variant (stop lost +1 more)	ERBB3-related disorder	GUncertain significance
Select item 1318382	NM_001982.4(ERBB3):c.421+249C>T	ERBB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1317838	NM_001982.4(ERBB3):c.422-229C>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 781078	NM_001982.4(ERBB3):c.422-7A>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090069	NM_001982.4(ERBB3):c.474G>A (p.Met158Ile)	ERBB3 (M158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090071	NM_001982.4(ERBB3):c.491G>A (p.Arg164Lys)	ERBB3 (R164K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276190	NM_001982.4(ERBB3):c.507C>A (p.Asp169Glu)	ERBB3 (D169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1163535	NM_001982.4(ERBB3):c.532G>A (p.Asp178Asn)	ERBB3 (D178N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266560	NM_001982.4(ERBB3):c.547+34C>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181926	NM_001982.4(ERBB3):c.547+143G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271406	NM_001982.4(ERBB3):c.547+208G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316571	NM_001982.4(ERBB3):c.547+326A>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643067	NM_001982.4(ERBB3):c.611C>T (p.Thr204Ile)	ERBB3 (T204I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2585366	NM_001982.4(ERBB3):c.650A>C (p.His217Pro)	ERBB3 (H217P)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 2	GUncertain significance
Select item 1316573	NM_001982.4(ERBB3):c.732+38G>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316296	NM_001982.4(ERBB3):c.733-30A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3257974	NM_001982.4(ERBB3):c.734C>T (p.Ala245Val)	ERBB3 (A245V)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 2557018	NM_001982.4(ERBB3):c.776G>A (p.Cys259Tyr)	ERBB3 (C259Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376190	NM_001982.4(ERBB3):c.785C>A (p.Pro262His)	ERBB3 (P262H)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 2384737	NM_001982.4(ERBB3):c.829C>T (p.His277Tyr)	ERBB3 (H277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376167	NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg)	ERBB3 (G284R)	Single nucleotide variant (missense variant)	Neoplasm of stomach +1 more	GLikely pathogenic
Select item 1250075	NM_001982.4(ERBB3):c.875-147T>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 376409	NM_001982.4(ERBB3):c.889G>A (p.Asp297Asn)	ERBB3 (D297N)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +4 more	GLikely pathogenic
Select item 376407	NM_001982.4(ERBB3):c.889G>T (p.Asp297Tyr)	ERBB3 (D297Y)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +4 more	GLikely pathogenic
Select item 376408	NM_001982.4(ERBB3):c.890A>T (p.Asp297Val)	ERBB3 (D297V)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +4 more	GLikely pathogenic
Select item 2243494	NM_001982.4(ERBB3):c.1099G>A (p.Gly367Ser)	ERBB3 (G367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1318055	NM_001982.4(ERBB3):c.1109+202A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253759	NM_001982.4(ERBB3):c.1109+207G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369379	NM_001982.4(ERBB3):c.1113C>G (p.Asp371Glu)	ERBB3 (D371E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635938	NM_001982.4(ERBB3):c.1117T>C (p.Trp373Arg)	ERBB3 (W373R)	Single nucleotide variant (missense variant)	ERBB3-related disorder	GUncertain significance
Select item 723539	NM_001982.4(ERBB3):c.1154A>G (p.Asn385Ser)	ERBB3 (N385S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2319074	NM_001982.4(ERBB3):c.1181C>A (p.Thr394Lys)	ERBB3 (T394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12572	NM_001982.4(ERBB3):c.1184-9A>G	ERBB3	Single nucleotide variant (intron variant)	Lethal congenital contracture syndrome 2	GPathogenic
Select item 750401	NM_001982.4(ERBB3):c.1209G>A (p.Pro403=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529499	NM_001982.4(ERBB3):c.1219C>T (p.His407Tyr)	ERBB3 (H407Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 978710	NM_001982.4(ERBB3):c.1253T>C (p.Ile418Thr)	ERBB3 (I418T)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 2	GLikely pathogenic
Select item 3344890	NM_001982.4(ERBB3):c.1293G>T (p.Leu431Phe)	ERBB3 (L431F)	Single nucleotide variant (missense variant)	ERBB3-related disorder	GUncertain significance
Select item 2628640	NM_001982.4(ERBB3):c.1330C>T (p.Arg444Ter)	ERBB3 (R444*)	Single nucleotide variant (nonsense)	ERBB3-related disorder	GLikely pathogenic
Select item 1269955	NM_001982.4(ERBB3):c.1347T>C (p.Ile449=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215855	NM_001982.4(ERBB3):c.1390T>C (p.Tyr464His)	ERBB3 (Y464H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054239	NM_001982.4(ERBB3):c.1424G>A (p.Arg475Gln)	ERBB3 (R475Q)	Single nucleotide variant (missense variant)	ERBB3-related disorder	GLikely benign
Select item 3090063	NM_001982.4(ERBB3):c.1454A>G (p.Lys485Arg)	ERBB3 (K485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468440	NM_001982.4(ERBB3):c.1466C>T (p.Pro489Leu)	ERBB3 (P489L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797353	NM_001982.4(ERBB3):c.1467G>A (p.Pro489=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243017	NM_001982.4(ERBB3):c.1468C>T (p.Arg490Cys)	ERBB3 (R490C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441277	NM_001982.4(ERBB3):c.1540_1543delinsATCA (p.Pro514_Gly515delinsIleSer)	ERBB3	Indel (missense variant)	not provided	GUncertain significance
Select item 2524070	NM_001982.4(ERBB3):c.1543G>A (p.Gly515Ser)	ERBB3 (G515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037895	NM_001982.4(ERBB3):c.1551C>T (p.Cys517=)	ERBB3	Single nucleotide variant (synonymous variant)	ERBB3-related disorder	GLikely benign
Select item 2296297	NM_001982.4(ERBB3):c.1574G>C (p.Arg525Pro)	ERBB3 (R525P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735649	NM_001982.4(ERBB3):c.1590G>C (p.Val530=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 795907	NM_001982.4(ERBB3):c.1614-10C>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2683204	NM_001982.4(ERBB3):c.1663G>C (p.Glu555Gln)	ERBB3 (E555Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032977	NM_001982.4(ERBB3):c.1677G>A (p.Met559Ile)	ERBB3 (M559I)	Single nucleotide variant (missense variant)	ERBB3-related disorder	GUncertain significance
Select item 2305024	NM_001982.4(ERBB3):c.1703C>G (p.Ser568Trp)	ERBB3 (S568W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222418	NM_001982.4(ERBB3):c.1860-293dup	ERBB3	Duplication (intron variant)	not provided	GBenign
Select item 1237576	NM_001982.4(ERBB3):c.1860-128G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2631098	NM_001982.4(ERBB3):c.1881_1891del (p.Asp628fs)	ERBB3 (D628fs)	Deletion (frameshift variant)	ERBB3-related disorder	GLikely pathogenic
Select item 3042993	NM_001982.4(ERBB3):c.1911C>T (p.Ile637=)	ERBB3	Single nucleotide variant (synonymous variant)	ERBB3-related disorder	GLikely benign
Select item 2572087	NM_001982.4(ERBB3):c.1914-7C>G	ERBB3	Single nucleotide variant (intron variant)	Visceral neuropathy, familial, 1, autosomal recessive	GPathogenic
Select item 734179	NM_001982.4(ERBB3):c.2041T>C (p.Leu681=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479424	NM_001982.4(ERBB3):c.2050G>A (p.Gly684Ser)	ERBB3 (G684S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3382627	NM_001982.4(ERBB3):c.2056-3C>G	ERBB3	Single nucleotide variant (intron variant)	Visceral neuropathy, familial, 1, autosomal recessive	GUncertain significance
Select item 1163536	NM_001982.4(ERBB3):c.2107A>C (p.Ile703Leu)	ERBB3 (I703L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2364508	NM_001982.4(ERBB3):c.2212C>G (p.Pro738Ala)	ERBB3 (P738A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090065	NM_001982.4(ERBB3):c.2225A>G (p.Lys742Arg)	ERBB3 (K742R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 634469	NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn)	ERBB3 (K747N)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 2 +1 more	GUncertain significance
Select item 374608	NM_001982.4(ERBB3):c.2274+1G>A	ERBB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1188814	NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro)	ERBB3 (T787P)	Single nucleotide variant (missense variant)	Visceral neuropathy, familial, 1, autosomal recessive	GLikely pathogenic
Select item 3042580	NM_001982.4(ERBB3):c.2383C>G (p.Leu795Val)	ERBB3 (L795V)	Single nucleotide variant (missense variant)	ERBB3-related disorder	GBenign
Select item 3276188	NM_001982.4(ERBB3):c.2407C>T (p.Arg803Trp)	ERBB3 (R803W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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