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	TBC1D3F, TBC1D3G +39 more	Copy number gain	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	MIR2909, MIR378J +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)	LOC126862543, LOC126862544 +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	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +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 2411976	NM_001163735.2(MYO19):c.2881G>A (p.Val961Met)	MYO19, ZNHIT3 (V961M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3036460	NM_001163735.2(MYO19):c.2757+674_2757+676dup	MYO19, ZNHIT3	Duplication (intron variant)	ZNHIT3-related condition	GLikely benign
Select item 3056481	NM_001163735.2(MYO19):c.2757+541G>A	MYO19, ZNHIT3 (Q136*)	Single nucleotide variant (nonsense +2 more)	ZNHIT3-related condition	GBenign
Select item 2245680	NM_001163735.2(MYO19):c.2713G>A (p.Ala905Thr)	MYO19, ZNHIT3 (A705T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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	AATF, ACACA +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)	Inborn genetic diseases	GUncertain significance
Select item 2609936	NM_001163735.2(MYO19):c.2323C>T (p.His775Tyr)	MYO19 (H575Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221104	NM_001163735.2(MYO19):c.2276G>A (p.Arg759Gln)	MYO19 (R559Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2515265	NM_001163735.2(MYO19):c.2197C>A (p.Pro733Thr)	MYO19 (P733T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611878	NM_001163735.2(MYO19):c.2183C>T (p.Ser728Leu)	MYO19 (S728L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209706	NM_001163735.2(MYO19):c.2174C>T (p.Thr725Ile)	MYO19 (T525I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410803	NM_001163735.2(MYO19):c.2116C>T (p.Pro706Ser)	MYO19 (P706S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323625	NM_001163735.2(MYO19):c.2087G>A (p.Cys696Tyr)	MYO19 (C696Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374677	NM_001163735.2(MYO19):c.1975C>T (p.Arg659Trp)	MYO19 (R459W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346605	NM_001163735.2(MYO19):c.1949A>G (p.His650Arg)	MYO19 (H450R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316494	NM_001163735.2(MYO19):c.1685C>T (p.Ser562Phe)	MYO19 (S562F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408695	NM_001163735.2(MYO19):c.1643A>T (p.Lys548Met)	MYO19 (K548M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525399	NM_001163735.2(MYO19):c.1592A>G (p.His531Arg)	MYO19 (H531R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521980	NM_001163735.2(MYO19):c.1513C>T (p.Arg505Cys)	MYO19 (R505C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392437	NM_001163735.2(MYO19):c.1495G>A (p.Ala499Thr)	MYO19 (A499T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463707	NM_001163735.2(MYO19):c.1474C>T (p.Arg492Cys)	MYO19 (R492C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557804	NM_001163735.2(MYO19):c.1304A>G (p.Asn435Ser)	MYO19 (N435S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359336	NM_001163735.2(MYO19):c.1300G>A (p.Ala434Thr)	MYO19 (A434T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509407	NM_001163735.2(MYO19):c.1247A>G (p.Tyr416Cys)	MYO19 (Y416C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482461	NM_001163735.2(MYO19):c.1174G>C (p.Val392Leu)	MYO19 (V392L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329005	NM_001163735.2(MYO19):c.1052T>A (p.Ile351Asn)	MYO19 (I351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531432	NM_001163735.2(MYO19):c.1030G>T (p.Val344Leu)	MYO19 (V344L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329004	NM_001163735.2(MYO19):c.1024G>A (p.Glu342Lys)	MYO19 (E342K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300830	NM_001163735.2(MYO19):c.996G>T (p.Arg332Ser)	MYO19 (R332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225294	NM_001163735.2(MYO19):c.968C>T (p.Pro323Leu)	MYO19 (P323L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2622413	NM_001163735.2(MYO19):c.953C>T (p.Ala318Val)	MYO19 (A318V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768873	NM_001163735.2(MYO19):c.429C>T (p.Arg143=)	MYO19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2280068	NM_001163735.2(MYO19):c.401G>A (p.Ser134Asn)	MYO19 (S134N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517985	NM_001163735.2(MYO19):c.382A>G (p.Ile128Val)	MYO19 (I128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619410	NM_001163735.2(MYO19):c.368C>A (p.Pro123Gln)	MYO19 (P123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217257	NM_001163735.2(MYO19):c.354G>C (p.Lys118Asn)	MYO19 (K118N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342991	NM_001163735.2(MYO19):c.310C>T (p.Pro104Ser)	MYO19 (P104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377601	NM_001163735.2(MYO19):c.263A>G (p.Glu88Gly)	MYO19 (E88G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317433	NM_001163735.2(MYO19):c.244C>G (p.Pro82Ala)	MYO19 (P82A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263322	NM_001163735.2(MYO19):c.200A>G (p.Asn67Ser)	MYO19 (N67S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622412	NM_001163735.2(MYO19):c.178A>G (p.Met60Val)	MYO19 (M60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614145	NM_001163735.2(MYO19):c.133C>T (p.Pro45Ser)	MYO19 (P45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249791	NM_001163735.2(MYO19):c.128T>C (p.Val43Ala)	MYO19 (V43A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254932	NM_001163735.2(MYO19):c.124A>T (p.Arg42Trp)	MYO19 (R42W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482957	NM_001163735.2(MYO19):c.118C>T (p.Leu40Phe)	MYO19 (L40F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610996	NM_001163735.2(MYO19):c.104A>C (p.Tyr35Ser)	MYO19 (Y35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211643	NM_001163735.2(MYO19):c.29C>T (p.Pro10Leu)	MYO19 (P10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1293105	NM_001346754.2(PIGW):c.-8-212=	MYO19, PIGW	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 584191	NC_000017.11:g.(?_36537082)_(36538636_?)del	MYO19, PIGW	Deletion	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2782353	NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr)	MYO19, PIGW (S2Y)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2509915	NM_001346754.2(PIGW):c.7G>A (p.Glu3Lys)	MYO19, PIGW (E3K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2731652	NM_001346754.2(PIGW):c.12G>A (p.Lys4=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2042973	NM_001346754.2(PIGW):c.15G>C (p.Gln5His)	MYO19, PIGW (Q5H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2012882	NM_001346754.2(PIGW):c.15G>T (p.Gln5His)	MYO19, PIGW (Q5H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2067972	NM_001346754.2(PIGW):c.21G>A (p.Lys7=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GBenign
Select item 576705	NM_001346754.2(PIGW):c.34A>G (p.Ser12Gly)	MYO19, PIGW (S12G)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1099021	NM_001346754.2(PIGW):c.54C>T (p.Thr18=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 793929	NM_001346754.2(PIGW):c.54C>G (p.Thr18=)	PIGW, MYO19	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2147486	NM_001346754.2(PIGW):c.55G>A (p.Val19Met)	MYO19, PIGW (V19M)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1661355	NM_001346754.2(PIGW):c.58C>T (p.Leu20=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1593996	NM_001346754.2(PIGW):c.69C>T (p.Thr23=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1385052	NM_001346754.2(PIGW):c.74G>A (p.Gly25Glu)	MYO19, PIGW (G25E)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance

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