196385[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	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	LOC130009086, LOC130009087 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	LOC130009051, LOC130009052 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	LOC130009168, LOC130009169 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2384589	NM_001372106.1(DNAH10):c.222A>G (p.Ile74Met)	DNAH10 (I74M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358760	NM_001372106.1(DNAH10):c.258G>T (p.Glu86Asp)	DNAH10 (E86D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292181	NM_001372106.1(DNAH10):c.283G>A (p.Val95Met)	DNAH10 (V34M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049615	NM_001372106.1(DNAH10):c.304C>T (p.Arg102Cys)	DNAH10 (R102C +1 more)	Single nucleotide variant (missense variant)	DNAH10-related condition	GLikely benign
Select item 2356577	NM_001372106.1(DNAH10):c.305G>A (p.Arg102His)	DNAH10 (R102H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3049674	NM_001372106.1(DNAH10):c.396A>C (p.Lys132Asn)	DNAH10 (K132N +1 more)	Single nucleotide variant (missense variant)	DNAH10-related condition	GUncertain significance
Select item 598473	NM_001372106.1(DNAH10):c.396+2T>G	DNAH10	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2282116	NM_001372106.1(DNAH10):c.404C>T (p.Ala135Val)	DNAH10 (A135V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2531187	NM_001372106.1(DNAH10):c.436A>G (p.Met146Val)	DNAH10 (M85V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2537020	NM_001372106.1(DNAH10):c.443G>C (p.Cys148Ser)	DNAH10 (C148S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787937	NM_001372106.1(DNAH10):c.477C>T (p.Asn159=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2602547	NM_001372106.1(DNAH10):c.512T>C (p.Ile171Thr)	DNAH10 (I110T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643520	NM_001372106.1(DNAH10):c.582C>T (p.Asn194=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212132	NM_001372106.1(DNAH10):c.583G>A (p.Ala195Thr)	DNAH10 (A134T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708810	NM_001372106.1(DNAH10):c.621+9G>A	DNAH10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 798681	NM_001372106.1(DNAH10):c.633A>G (p.Pro211=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033391	NM_001372106.1(DNAH10):c.666A>C (p.Thr222=)	DNAH10	Single nucleotide variant (synonymous variant)	DNAH10-related condition	GLikely benign
Select item 2305020	NM_001372106.1(DNAH10):c.667A>G (p.Thr223Ala)	DNAH10 (T162A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402611	NM_001372106.1(DNAH10):c.682T>C (p.Ser228Pro)	DNAH10 (S167P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 740262	NM_001372106.1(DNAH10):c.702C>G (p.Ser234=)	DNAH10	Single nucleotide variant (synonymous variant)	DNAH10-related condition +1 more	GBenign/Likely benign
Select item 2601892	NM_001372106.1(DNAH10):c.714A>C (p.Glu238Asp)	DNAH10 (E177D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2382311	NM_001372106.1(DNAH10):c.731T>C (p.Met244Thr)	DNAH10 (M183T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483882	NM_001372106.1(DNAH10):c.757A>G (p.Ser253Gly)	DNAH10 (S253G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254146	NM_001372106.1(DNAH10):c.758G>A (p.Ser253Asn)	DNAH10 (S192N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402612	NM_001372106.1(DNAH10):c.842-16A>G	DNAH10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2383401	NM_001372106.1(DNAH10):c.865A>G (p.Ile289Val)	DNAH10 (I289V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402613	NM_001372106.1(DNAH10):c.891T>C (p.Ser297=)	DNAH10	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 402628	NM_001372106.1(DNAH10):c.901G>A (p.Ala301Thr)	DNAH10 (A240T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462642	NM_001372106.1(DNAH10):c.968C>T (p.Ala323Val)	DNAH10 (A323V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305941	NM_001372106.1(DNAH10):c.1000G>A (p.Gly334Ser)	DNAH10 (G273S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517546	NM_001372106.1(DNAH10):c.1126A>G (p.Met376Val)	DNAH10 (M315V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369948	NM_001372106.1(DNAH10):c.1178C>T (p.Thr393Met)	DNAH10 (T332M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2382333	NM_001372106.1(DNAH10):c.1199G>A (p.Arg400His)	DNAH10 (R339H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747321	NM_001372106.1(DNAH10):c.1200C>G (p.Arg400=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256382	NM_001372106.1(DNAH10):c.1286T>C (p.Met429Thr)	DNAH10 (M429T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 775321	NM_001372106.1(DNAH10):c.1303G>A (p.Val435Met)	DNAH10 (V435M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779613	NM_001372106.1(DNAH10):c.1405C>T (p.Leu469=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712126	NM_001372106.1(DNAH10):c.1409G>A (p.Arg470Gln)	DNAH10 (R409Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2310919	NM_001372106.1(DNAH10):c.1430G>C (p.Arg477Pro)	DNAH10 (R416P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485006	NM_001372106.1(DNAH10):c.1433C>T (p.Ala478Val)	DNAH10 (A417V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781702	NM_001372106.1(DNAH10):c.1453T>C (p.Leu485=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2369176	NM_001372106.1(DNAH10):c.1488G>T (p.Lys496Asn)	DNAH10 (K496N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643521	NM_001372106.1(DNAH10):c.1491C>T (p.Ala497=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607219	NM_001372106.1(DNAH10):c.1493A>G (p.Tyr498Cys)	DNAH10 (Y437C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590765	NM_001372106.1(DNAH10):c.1502C>T (p.Thr501Ile)	DNAH10 (T501I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591868	NM_001372106.1(DNAH10):c.1520C>T (p.Ala507Val)	DNAH10 (A446V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212424	NM_001372106.1(DNAH10):c.1538G>A (p.Arg513Gln)	DNAH10 (R452Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377021	NM_001372106.1(DNAH10):c.1552C>T (p.Arg518Trp)	DNAH10 (R457W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284533	NM_001372106.1(DNAH10):c.1553G>A (p.Arg518Gln)	DNAH10 (R457Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569220	NM_001372106.1(DNAH10):c.1566C>G (p.Phe522Leu)	DNAH10 (F461L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516348	NM_001372106.1(DNAH10):c.1609G>A (p.Asp537Asn)	DNAH10 (D476N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287323	NM_001372106.1(DNAH10):c.1615C>G (p.Leu539Val)	DNAH10 (L478V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402614	NM_001372106.1(DNAH10):c.1621A>G (p.Ile541Val)	DNAH10 (I480V +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2293736	NM_001372106.1(DNAH10):c.1712A>G (p.Asp571Gly)	DNAH10 (D510G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736787	NM_001372106.1(DNAH10):c.1713C>T (p.Asp571=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629931	NM_001372106.1(DNAH10):c.1752dup (p.Phe585fs)	DNAH10 (F524fs +1 more)	Duplication (frameshift variant)	DNAH10-related condition	GUncertain significance
Select item 776773	NM_001372106.1(DNAH10):c.1772A>C (p.Gln591Pro)	DNAH10 (Q591P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3056758	NM_001372106.1(DNAH10):c.2106T>C (p.His702=)	DNAH10	Single nucleotide variant (synonymous variant)	DNAH10-related condition	GBenign
Select item 770417	NM_001372106.1(DNAH10):c.2172A>G (p.Gln724=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3050299	NM_001372106.1(DNAH10):c.2207A>T (p.Tyr736Phe)	DNAH10 (Y618F +1 more)	Single nucleotide variant (missense variant)	DNAH10-related condition	GLikely benign
Select item 2474535	NM_001372106.1(DNAH10):c.2302A>G (p.Thr768Ala)	DNAH10 (T650A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3043353	NM_001372106.1(DNAH10):c.2409C>T (p.Phe803=)	DNAH10	Single nucleotide variant (synonymous variant)	DNAH10-related condition	GLikely benign
Select item 3025769	NM_001372106.1(DNAH10):c.2426C>T (p.Ala809Val)	DNAH10 (A691V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2531186	NM_001372106.1(DNAH10):c.2474G>A (p.Gly825Glu)	DNAH10 (G825E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785431	NM_001372106.1(DNAH10):c.2505G>T (p.Met835Ile)	DNAH10 (M717I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2232304	NM_001372106.1(DNAH10):c.2522A>G (p.Asn841Ser)	DNAH10 (N723S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643522	NM_001372106.1(DNAH10):c.2569C>A (p.Arg857=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314243	NM_001372106.1(DNAH10):c.2582C>T (p.Ser861Leu)	DNAH10 (S861L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055679	NM_001372106.1(DNAH10):c.2619C>T (p.Ile873=)	DNAH10	Single nucleotide variant (synonymous variant)	DNAH10-related condition	GBenign
Select item 784527	NM_001372106.1(DNAH10):c.2620G>A (p.Gly874Ser)	DNAH10 (G756S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715585	NM_001372106.1(DNAH10):c.2754C>T (p.Ala918=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352547	NM_001372106.1(DNAH10):c.2810G>A (p.Arg937Gln)	DNAH10 (R819Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745282	NM_001372106.1(DNAH10):c.2823C>A (p.Ser941Arg)	DNAH10 (S941R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2521597	NM_001372106.1(DNAH10):c.2842C>T (p.Arg948Trp)	DNAH10 (R830W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356379	NM_001372106.1(DNAH10):c.2893G>A (p.Val965Ile)	DNAH10 (V965I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3033853	NM_001372106.1(DNAH10):c.2987+8C>T	DNAH10	Single nucleotide variant (intron variant)	DNAH10-related condition	GLikely benign
Select item 2553579	NM_001372106.1(DNAH10):c.3130G>A (p.Val1044Met)	DNAH10 (V1044M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750625	NM_001372106.1(DNAH10):c.3202G>A (p.Glu1068Lys)	DNAH10 (E1068K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2309439	NM_001372106.1(DNAH10):c.3214G>C (p.Val1072Leu)	DNAH10 (V1072L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265531	NM_001372106.1(DNAH10):c.3234T>G (p.Asn1078Lys)	DNAH10 (N960K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461396	NM_001372106.1(DNAH10):c.3250C>A (p.Pro1084Thr)	DNAH10 (P966T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311298	NM_001372106.1(DNAH10):c.3287A>T (p.Asn1096Ile)	DNAH10 (N1096I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342723	NM_001372106.1(DNAH10):c.3289G>A (p.Val1097Ile)	DNAH10 (V1097I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 780152	NM_001372106.1(DNAH10):c.3308A>G (p.Asn1103Ser)	DNAH10 (N1103S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782131	NM_001372106.1(DNAH10):c.3337C>T (p.Arg1113Trp)	DNAH10 (R1113W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2616894	NM_001372106.1(DNAH10):c.3395A>G (p.Lys1132Arg)	DNAH10 (K1132R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708834	NM_001372106.1(DNAH10):c.3407G>A (p.Cys1136Tyr)	DNAH10 (C1018Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 737778	NM_001372106.1(DNAH10):c.3474A>G (p.Leu1158=)	DNAH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2492558	NM_001372106.1(DNAH10):c.3490T>C (p.Cys1164Arg)	DNAH10 (C1046R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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