MYO19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 more	Copy number loss	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 545221	Single allele	AATF, ACACA +37 more	Duplication	Autism	GLikely pathogenic
Select item 545220	NC_000017.11:g.(?_36357256)_(37995300_?)del	AATF, ACACA +37 more	Deletion	Schizophrenia	GPathogenic
Select item 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 160879	GRCh38/hg38 17q12(chr17:36357258-37889296)x3	AATF, ACACA +35 more	Copy number gain	See cases	GPathogenic
Select item 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 60471	GRCh38/hg38 17q12(chr17:36422657-37890225)x1	AATF, ACACA +34 more	Copy number loss	See cases	GPathogenic
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 148853	GRCh38/hg38 17q12(chr17:36446545-38225796)x1	AATF, ACACA +39 more	Copy number loss	See cases	GPathogenic
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 1184293	Single allele	GGNBP2, MYO19 +2 more	Duplication	not provided	GUncertain significance
Select item 149614	GRCh38/hg38 17q12(chr17:36461608-37889296)x3	AATF, ACACA +33 more	Copy number gain	See cases	GLikely pathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2579204	GRCh38/hg38 17q12(chr17:36486532-37745203)x1	AATF, ACACA +32 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 60473	GRCh38/hg38 17q12(chr17:36493974-37890225)x1	AATF, ACACA +33 more	Copy number loss	See cases	GPathogenic
Select item 3162873	NM_001163735.2(MYO19):c.2909G>A (p.Gly970Glu)	MYO19, ZNHIT3 (G970E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411976	NM_001163735.2(MYO19):c.2881G>A (p.Val961Met)	MYO19, ZNHIT3 (V961M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297755	NM_001163735.2(MYO19):c.2864G>A (p.Arg955Lys)	MYO19, ZNHIT3 (R955K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647691	NM_001163735.2(MYO19):c.2862A>G (p.Glu954=)	MYO19, ZNHIT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2522884	NM_001163735.2(MYO19):c.2824C>T (p.Pro942Ser)	MYO19, ZNHIT3 (P742S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162869	NM_001163735.2(MYO19):c.2795G>A (p.Arg932Gln)	MYO19, ZNHIT3 (R732Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297757	NM_001163735.2(MYO19):c.2761T>C (p.Ser921Pro)	MYO19, ZNHIT3 (S921P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036460	NM_001163735.2(MYO19):c.2757+674_2757+676dup	MYO19, ZNHIT3	Duplication (intron variant)	ZNHIT3-related disorder	GLikely benign
Select item 3056481	NM_001163735.2(MYO19):c.2757+541G>A	MYO19, ZNHIT3 (Q136*)	Single nucleotide variant (nonsense +2 more)	ZNHIT3-related disorder	GBenign
Select item 3297753	NM_001163735.2(MYO19):c.2752C>A (p.Pro918Thr)	MYO19, ZNHIT3 (P918T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3239611	NM_001163735.2(MYO19):c.2736G>A (p.Thr912=)	MYO19, ZNHIT3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3162868	NM_001163735.2(MYO19):c.2735C>T (p.Thr912Met)	MYO19, ZNHIT3 (T712M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245680	NM_001163735.2(MYO19):c.2713G>A (p.Ala905Thr)	MYO19, ZNHIT3 (A705T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162866	NM_001163735.2(MYO19):c.2696G>C (p.Ser899Thr)	MYO19, ZNHIT3 (S699T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518000	NM_001163735.2(MYO19):c.2687G>A (p.Ser896Asn)	MYO19, ZNHIT3 (S696N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220452	NM_001163735.2(MYO19):c.2668C>T (p.Leu890Phe)	MYO19, ZNHIT3 (L890F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345023	NM_001163735.2(MYO19):c.2593C>A (p.Pro865Thr)	MYO19, ZNHIT3 (P865T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297751	NM_001163735.2(MYO19):c.2585G>A (p.Arg862His)	MYO19, ZNHIT3 (R662H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267773	NM_001163735.2(MYO19):c.2552C>T (p.Pro851Leu)	MYO19, ZNHIT3 (P651L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 785567	NM_001163735.2(MYO19):c.2490A>G (p.Lys830=)	MYO19, ZNHIT3	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2544897	NM_001163735.2(MYO19):c.2488A>G (p.Lys830Glu)	MYO19, ZNHIT3 (K630E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298843	NM_001163735.2(MYO19):c.2476T>C (p.Cys826Arg)	MYO19, ZNHIT3 (C626R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162845	NM_001163735.2(MYO19):c.2470A>G (p.Met824Val)	MYO19, ZNHIT3 (M624V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297756	NM_001163735.2(MYO19):c.2432C>T (p.Thr811Ile)	MYO19, ZNHIT3 (T611I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264318	NM_001163735.2(MYO19):c.2426C>G (p.Ala809Gly)	MYO19, ZNHIT3 (A809G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162840	NM_001163735.2(MYO19):c.2423C>T (p.Ala808Val)	MYO19, ZNHIT3 (A808V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 160874	GRCh38/hg38 17q12(chr17:36500215-37889296)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 152570	GRCh38/hg38 17q12(chr17:36500215-36550767)x3	GGNBP2, MYO19 +1 more	Copy number gain	See cases	GBenign
Select item 32491	GRCh38/hg38 17q12(chr17:36500215-37889296)x3	ACACA, C17orf78 +32 more	Copy number gain	See cases	GPathogenic
Select item 149644	GRCh38/hg38 17q12(chr17:36500465-37889304)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 2460845	NM_001163735.2(MYO19):c.2344C>T (p.Arg782Trp)	MYO19 (R582W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609936	NM_001163735.2(MYO19):c.2323C>T (p.His775Tyr)	MYO19 (H575Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162834	NM_001163735.2(MYO19):c.2308G>A (p.Gly770Ser)	MYO19 (G570S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162830	NM_001163735.2(MYO19):c.2297G>A (p.Arg766His)	MYO19 (R566H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162828	NM_001163735.2(MYO19):c.2293G>C (p.Ala765Pro)	MYO19 (A565P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221104	NM_001163735.2(MYO19):c.2276G>A (p.Arg759Gln)	MYO19 (R559Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162824	NM_001163735.2(MYO19):c.2269C>T (p.Arg757Cys)	MYO19 (R557C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515265	NM_001163735.2(MYO19):c.2197C>A (p.Pro733Thr)	MYO19 (P733T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611878	NM_001163735.2(MYO19):c.2183C>T (p.Ser728Leu)	MYO19 (S728L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209706	NM_001163735.2(MYO19):c.2174C>T (p.Thr725Ile)	MYO19 (T525I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410803	NM_001163735.2(MYO19):c.2116C>T (p.Pro706Ser)	MYO19 (P706S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323625	NM_001163735.2(MYO19):c.2087G>A (p.Cys696Tyr)	MYO19 (C696Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374677	NM_001163735.2(MYO19):c.1975C>T (p.Arg659Trp)	MYO19 (R459W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346605	NM_001163735.2(MYO19):c.1949A>G (p.His650Arg)	MYO19 (H450R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297750	NM_001163735.2(MYO19):c.1904A>C (p.Glu635Ala)	MYO19 (E635A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297752	NM_001163735.2(MYO19):c.1880A>G (p.Gln627Arg)	MYO19 (Q627R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162809	NM_001163735.2(MYO19):c.1852C>T (p.Arg618Cys)	MYO19 (R618C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162804	NM_001163735.2(MYO19):c.1708C>G (p.Leu570Val)	MYO19 (L570V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316494	NM_001163735.2(MYO19):c.1685C>T (p.Ser562Phe)	MYO19 (S562F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408695	NM_001163735.2(MYO19):c.1643A>T (p.Lys548Met)	MYO19 (K548M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525399	NM_001163735.2(MYO19):c.1592A>G (p.His531Arg)	MYO19 (H531R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162795	NM_001163735.2(MYO19):c.1567C>T (p.Arg523Trp)	MYO19 (R523W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521980	NM_001163735.2(MYO19):c.1513C>T (p.Arg505Cys)	MYO19 (R505C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392437	NM_001163735.2(MYO19):c.1495G>A (p.Ala499Thr)	MYO19 (A499T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463707	NM_001163735.2(MYO19):c.1474C>T (p.Arg492Cys)	MYO19 (R492C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162779	NM_001163735.2(MYO19):c.1427T>C (p.Ile476Thr)	MYO19 (I476T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162776	NM_001163735.2(MYO19):c.1423C>G (p.Leu475Val)	MYO19 (L475V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162772	NM_001163735.2(MYO19):c.1361A>G (p.Tyr454Cys)	MYO19 (Y454C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557804	NM_001163735.2(MYO19):c.1304A>G (p.Asn435Ser)	MYO19 (N435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359336	NM_001163735.2(MYO19):c.1300G>A (p.Ala434Thr)	MYO19 (A434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509407	NM_001163735.2(MYO19):c.1247A>G (p.Tyr416Cys)	MYO19 (Y416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162752	NM_001163735.2(MYO19):c.1210G>A (p.Asp404Asn)	MYO19 (D404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482461	NM_001163735.2(MYO19):c.1174G>C (p.Val392Leu)	MYO19 (V392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162747	NM_001163735.2(MYO19):c.1149C>G (p.Ile383Met)	MYO19 (I383M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162743	NM_001163735.2(MYO19):c.1106G>A (p.Arg369Gln)	MYO19 (R369Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162738	NM_001163735.2(MYO19):c.1102G>A (p.Ala368Thr)	MYO19 (A368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297749	NM_001163735.2(MYO19):c.1090C>T (p.Arg364Trp)	MYO19 (R364W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162733	NM_001163735.2(MYO19):c.1067C>G (p.Ala356Gly)	MYO19 (A356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1329005	NM_001163735.2(MYO19):c.1052T>A (p.Ile351Asn)	MYO19 (I351N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3297754	NM_001163735.2(MYO19):c.1043T>C (p.Met348Thr)	MYO19 (M348T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531432	NM_001163735.2(MYO19):c.1030G>T (p.Val344Leu)	MYO19 (V344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1329004	NM_001163735.2(MYO19):c.1024G>A (p.Glu342Lys)	MYO19 (E342K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2300830	NM_001163735.2(MYO19):c.996G>T (p.Arg332Ser)	MYO19 (R332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225294	NM_001163735.2(MYO19):c.968C>T (p.Pro323Leu)	MYO19 (P323L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622413	NM_001163735.2(MYO19):c.953C>T (p.Ala318Val)	MYO19 (A318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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