2749[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 150635	GRCh38/hg38 17q21.31(chr17:43124234-43520458)x3	ARL4D, BRCA1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 154024	GRCh38/hg38 17q21.31(chr17:43322528-43849385)x3	ARL4D, CD300LG +33 more	Copy number gain	See cases	GLikely benign
Select item 148000	GRCh38/hg38 17q21.31(chr17:43387123-43865083)x3	ARL4D, CD300LG +26 more	Copy number gain	See cases	GUncertain significance
Select item 2521299	NM_004941.3(DHX8):c.4G>T (p.Ala2Ser)	DHX8 (A2S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082337	NM_004941.3(DHX8):c.26G>T (p.Gly9Val)	DHX8 (G9V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483288	NM_004941.3(DHX8):c.28G>T (p.Ala10Ser)	DHX8 (A10S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223423	NM_004941.3(DHX8):c.55G>A (p.Ala19Thr)	DHX8 (A19T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082336	NM_004941.3(DHX8):c.140A>G (p.Lys47Arg)	DHX8 (K47R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300750	NM_004941.3(DHX8):c.161T>C (p.Ile54Thr)	DHX8 (I54T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2524116	NM_004941.3(DHX8):c.211G>A (p.Val71Ile)	DHX8 (V71I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3271941	NM_004941.3(DHX8):c.215A>C (p.Lys72Thr)	DHX8 (K72T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2275763	NM_004941.3(DHX8):c.286G>A (p.Ala96Thr)	DHX8 (A5T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494724	NM_004941.3(DHX8):c.322C>T (p.Pro108Ser)	DHX8 (P17S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082339	NM_004941.3(DHX8):c.512C>T (p.Thr171Ile)	DHX8 (T169I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2265987	NM_004941.3(DHX8):c.523A>C (p.Lys175Gln)	DHX8 (K84Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472706	NM_004941.3(DHX8):c.526C>T (p.Arg176Trp)	DHX8 (R85W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387365	NM_004941.3(DHX8):c.533G>A (p.Arg178Gln)	DHX8 (R87Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205887	NM_004941.3(DHX8):c.559G>C (p.Asp187His)	DHX8 (D96H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519929	NM_004941.3(DHX8):c.581G>A (p.Arg194Gln)	DHX8 (R194Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2270020	NM_004941.3(DHX8):c.593A>T (p.His198Leu)	DHX8 (H198L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528093	NM_004941.3(DHX8):c.734A>T (p.Asn245Ile)	DHX8 (N243I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082341	NM_004941.3(DHX8):c.803A>G (p.Tyr268Cys)	DHX8 (Y268C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207079	NM_004941.3(DHX8):c.859C>G (p.Leu287Val)	DHX8 (L285V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271940	NM_004941.3(DHX8):c.905G>A (p.Arg302Gln)	DHX8 (R211Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082342	NM_004941.3(DHX8):c.908A>C (p.Glu303Ala)	DHX8 (E212A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271938	NM_004941.3(DHX8):c.953G>A (p.Arg318Lys)	DHX8 (R316K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596145	NM_004941.3(DHX8):c.1063G>A (p.Val355Ile)	DHX8 (V353I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271939	NM_004941.3(DHX8):c.1547C>T (p.Ala516Val)	DHX8 (A241V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476876	NM_004941.3(DHX8):c.1592T>C (p.Met531Thr)	DHX8 (M256T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336674	NM_004941.3(DHX8):c.1640A>T (p.Lys547Ile)	DHX8 (K547I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360644	NM_004941.3(DHX8):c.1732G>A (p.Val578Ile)	DHX8 (V576I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732498	NM_004941.3(DHX8):c.2055C>T (p.Asp685=)	DHX8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2329664	NM_004941.3(DHX8):c.2189A>G (p.Tyr730Cys)	DHX8 (Y728C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595916	NM_004941.3(DHX8):c.2344G>A (p.Gly782Ser)	DHX8 (G691S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647813	NM_004941.3(DHX8):c.2800-4C>A	DHX8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2278346	NM_004941.3(DHX8):c.2935C>T (p.Arg979Trp)	DHX8 (R704W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253760	NM_004941.3(DHX8):c.3049G>A (p.Val1017Ile)	DHX8 (V926I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082338	NM_004941.3(DHX8):c.3067G>A (p.Asp1023Asn)	DHX8 (D932N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525733	NM_004941.3(DHX8):c.3223G>T (p.Ala1075Ser)	DHX8 (A1073S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271942	NM_004941.3(DHX8):c.3308T>C (p.Val1103Ala)	DHX8 (V1101A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557095	NM_004941.3(DHX8):c.3319A>G (p.Ile1107Val)	DHX8 (I1107V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782724	NM_004941.3(DHX8):c.3444-10C>T	DHX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2408613	NM_001079675.5(ETV4):c.1427T>C (p.Phe476Ser)	DHX8, ETV4 (F437S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395711	NM_001079675.5(ETV4):c.1393T>C (p.Tyr465His)	DHX8, ETV4 (Y460H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090765	NM_001079675.5(ETV4):c.1388C>G (p.Pro463Arg)	DHX8, ETV4 (P424R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090764	NM_001079675.5(ETV4):c.1351G>A (p.Glu451Lys)	DHX8, ETV4 (E174K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276629	NM_001079675.5(ETV4):c.1336C>T (p.Arg446Trp)	DHX8, ETV4 (R407W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647814	NM_001079675.5(ETV4):c.1309C>T (p.Arg437Cys)	DHX8, ETV4 (R160C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 732059	NM_001079675.5(ETV4):c.1298C>T (p.Pro433Leu)	DHX8, ETV4 (P156L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1344611	NM_001079675.5(ETV4):c.1244G>A (p.Arg415His)	DHX8, ETV4 (R138H +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1243936	NM_001079675.5(ETV4):c.1231-137A>G	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266831	NM_001079675.5(ETV4):c.1129-107C>T	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2458298	NM_001079675.5(ETV4):c.1078A>G (p.Ile360Val)	DHX8, ETV4 (I355V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090763	NM_001079675.5(ETV4):c.1015G>A (p.Gly339Ser)	DHX8, ETV4 (G339S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235670	NM_001079675.5(ETV4):c.1004A>G (p.Tyr335Cys)	DHX8, ETV4 (Y334C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522754	NM_001079675.5(ETV4):c.998C>T (p.Pro333Leu)	DHX8, ETV4 (P56L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247343	NM_001079675.5(ETV4):c.980G>A (p.Gly327Asp)	DHX8, ETV4 (G322D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090772	NM_001079675.5(ETV4):c.934G>C (p.Val312Leu)	DHX8, ETV4 (V307L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357803	NM_001079675.5(ETV4):c.934G>A (p.Val312Ile)	DHX8, ETV4 (V307I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323810	NM_001079675.5(ETV4):c.896A>G (p.Tyr299Cys)	DHX8, ETV4 (Y22C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090771	NM_001079675.5(ETV4):c.885G>C (p.Met295Ile)	DHX8, ETV4 (M18I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487879	NM_001079675.5(ETV4):c.877G>T (p.Gly293Trp)	DHX8, ETV4 (G16W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1260653	NM_001079675.5(ETV4):c.812-429CG[3]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1257943	NM_001079675.5(ETV4):c.812-428G>A	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295940	NM_001079675.5(ETV4):c.812-454AC[9]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1241567	NM_001079675.5(ETV4):c.812-454A>T	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090770	NM_001079675.5(ETV4):c.791C>T (p.Thr264Met)	DHX8, ETV4 (T225M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291381	NM_001079675.5(ETV4):c.716A>G (p.Gln239Arg)	DHX8, ETV4 (Q200R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510714	NM_001079675.5(ETV4):c.694C>A (p.Pro232Thr)	DHX8, ETV4 (P193T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481988	NM_001079675.5(ETV4):c.619G>A (p.Ala207Thr)	DHX8, ETV4 (A168T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372870	NM_001079675.5(ETV4):c.605G>A (p.Arg202Gln)	DHX8, ETV4 (R202Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532242	NM_001079675.5(ETV4):c.604C>T (p.Arg202Trp)	DHX8, ETV4 (R201W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779021	NM_001079675.5(ETV4):c.583T>A (p.Phe195Ile)	ETV4, DHX8 (F156I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2335522	NM_001079675.5(ETV4):c.573T>G (p.Ile191Met)	DHX8, ETV4 (I191M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739778	NM_001079675.5(ETV4):c.549C>T (p.Ser183=)	DHX8, ETV4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1249580	NM_001079675.5(ETV4):c.546-91G>A	ETV4, DHX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052794	NM_001079675.5(ETV4):c.523C>A (p.His175Asn)	DHX8, ETV4 (H136N +2 more)	Single nucleotide variant (missense variant +1 more)	ETV4-related disorder	GLikely benign
Select item 2238985	NM_001079675.5(ETV4):c.503C>T (p.Thr168Ile)	DHX8, ETV4 (T168I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383129	NM_001079675.5(ETV4):c.379T>C (p.Ser127Pro)	DHX8, ETV4 (S88P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090767	NM_001079675.5(ETV4):c.346C>T (p.Leu116Phe)	DHX8, ETV4 (L116F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732873	NM_001079675.5(ETV4):c.343C>T (p.Pro115Ser)	DHX8, ETV4 (P76S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2294722	NM_001079675.5(ETV4):c.308G>A (p.Arg103His)	DHX8, ETV4 (R102H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335920	NM_001079675.5(ETV4):c.285C>G (p.Ile95Met)	DHX8, ETV4 (I94M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768888	NM_001079675.5(ETV4):c.278C>G (p.Thr93Ser)	DHX8, ETV4 (T54S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1241207	NM_001079675.5(ETV4):c.256+285GTTT[5]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1274156	NM_001079675.5(ETV4):c.256+103C>A	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2278832	NM_001079675.5(ETV4):c.223G>A (p.Glu75Lys)	DHX8, ETV4 (E36K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411036	NM_001079675.5(ETV4):c.217A>G (p.Ser73Gly)	DHX8, ETV4 (S34G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243158	NC_000017.10:g.(?_41277268)_(41836109_?)dup	ARL4D, BRCA1 +7 more	Duplication	not provided	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1526577	GRCh37/hg19 17q21.31(chr17:41202796-41974964)	ARL4D, BRCA1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 980720	GRCh37/hg19 17q21.31(chr17:41221565-41775043)x3	ARL4D, BRCA1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815937	GRCh37/hg19 17q21.31(chr17:41399892-42125780)x3	ARL4D, CD300LG +13 more	Copy number gain	not provided	GUncertain significance

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