53904[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 59666	GRCh38/hg38 10p12.1(chr10:25484473-26963308)x3	ABI1, ANKRD26 +38 more	Copy number gain	See cases	GPathogenic
Select item 299635	NM_017433.4(MYO3A):c.-312G>A	MYO3A	Single nucleotide variant	Hearing loss, autosomal recessive	GUncertain significance
Select item 299636	NM_017433.4(MYO3A):c.-302G>C	MYO3A	Single nucleotide variant	Hearing loss, autosomal recessive	GUncertain significance
Select item 299637	NM_017433.4(MYO3A):c.-215A>G	MYO3A	Single nucleotide variant	Hearing loss, autosomal recessive +1 more	GLikely benign
Select item 299638	NM_017433.5(MYO3A):c.-189C>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GLikely benign
Select item 879708	NM_017433.5(MYO3A):c.-146G>A	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299639	NM_017433.5(MYO3A):c.-132A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 879709	NM_017433.5(MYO3A):c.-109C>T	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299640	NM_017433.5(MYO3A):c.-104-14del	MYO3A	Deletion (intron variant)	Hearing loss, autosomal recessive	GUncertain significance
Select item 299641	NM_017433.5(MYO3A):c.-50A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299642	NM_017433.5(MYO3A):c.-37A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 877766	NM_017433.5(MYO3A):c.-30A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299643	NM_017433.5(MYO3A):c.-18G>A	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GBenign
Select item 682722	NM_017433.5(MYO3A):c.-17-79C>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 45791	NM_017433.5(MYO3A):c.-15T>A	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GBenign
Select item 178989	NM_017433.5(MYO3A):c.1A>G (p.Met1Val)	MYO3A (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3401524	NM_017433.5(MYO3A):c.16G>A (p.Gly6Arg)	MYO3A (G6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2966405	NM_017433.5(MYO3A):c.25A>G (p.Ile9Val)	MYO3A (I9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302345	NM_017433.5(MYO3A):c.35A>T (p.Asp12Val)	MYO3A (D12V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1878816	NM_017433.5(MYO3A):c.76_77delinsTA (p.Thr26Ter)	MYO3A (T26*)	Indel (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1307464	NM_017433.5(MYO3A):c.83G>A (p.Gly28Asp)	MYO3A (G28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580670	NM_017433.5(MYO3A):c.103G>A (p.Val35Ile)	MYO3A (V35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575867	NM_017433.5(MYO3A):c.112G>T (p.Val38Leu)	MYO3A (V38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199644	NM_017433.5(MYO3A):c.113T>C (p.Val38Ala)	MYO3A (V38A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2690482	NM_017433.5(MYO3A):c.115T>C (p.Leu39=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GLikely benign
Select item 3355415	NM_017433.5(MYO3A):c.117G>T (p.Leu39Phe)	MYO3A (L39F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2707261	NM_017433.5(MYO3A):c.133C>T (p.Gln45Ter)	MYO3A (Q45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2758327	NM_017433.5(MYO3A):c.152T>G (p.Ile51Ser)	MYO3A (I51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 299644	NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn)	MYO3A (I51N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +3 more	GUncertain significance
Select item 618748	NM_017433.5(MYO3A):c.154C>G (p.Leu52Val)	MYO3A (L52V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297842	NM_017433.5(MYO3A):c.158A>T (p.Asp53Val)	MYO3A (D53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 228977	NM_017433.5(MYO3A):c.168C>T (p.His56=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2572843	NM_017433.5(MYO3A):c.168+1G>T	MYO3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2446564	NM_017433.5(MYO3A):c.168+1G>A	MYO3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2876806	NM_017433.5(MYO3A):c.168+3A>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1120130	NM_017433.5(MYO3A):c.168+3_168+4del	MYO3A	Deletion (intron variant)	not specified	GUncertain significance
Select item 2886656	NM_017433.5(MYO3A):c.168+8A>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224858	NM_017433.5(MYO3A):c.168+249G>A	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244694	NM_017433.5(MYO3A):c.169-200G>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293720	NM_017433.5(MYO3A):c.169-93A>C	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 45800	NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala)	MYO3A (D57A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 164603	NM_017433.5(MYO3A):c.177C>T (p.Asp59=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3363699	NM_017433.5(MYO3A):c.178G>A (p.Glu60Lys)	MYO3A (E60K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3075926	NM_017433.5(MYO3A):c.192del (p.Glu65fs)	MYO3A (E65fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1201223	NM_017433.5(MYO3A):c.202A>C (p.Ile68Leu)	MYO3A (I68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252978	NM_017433.5(MYO3A):c.210A>T (p.Lys70Asn)	MYO3A (K70N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297840	NM_017433.5(MYO3A):c.214C>A (p.Leu72Ile)	MYO3A (L72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707387	NM_017433.5(MYO3A):c.219T>G (p.Ser73=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1710795	NM_017433.5(MYO3A):c.225C>A (p.His75Gln)	MYO3A (H75Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506195	NM_017433.5(MYO3A):c.230A>C (p.Asn77Thr)	MYO3A (N77T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 878795	NM_017433.5(MYO3A):c.233T>G (p.Val78Gly)	MYO3A (V78G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GUncertain significance
Select item 2872083	NM_017433.5(MYO3A):c.243C>A (p.Phe81Leu)	MYO3A (F81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175262	NM_017433.5(MYO3A):c.250A>T (p.Ile84Leu)	MYO3A (I84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2611329	NM_017433.5(MYO3A):c.254A>G (p.Tyr85Cys)	MYO3A (Y85C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066632	NM_017433.5(MYO3A):c.258T>C (p.Phe86=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2206982	NM_017433.5(MYO3A):c.271G>T (p.Val91Leu)	MYO3A (V91L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1347179	NM_017433.5(MYO3A):c.275A>G (p.Asn92Ser)	MYO3A (N92S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667277	NM_017433.5(MYO3A):c.285G>T (p.Lys95Asn)	MYO3A (K95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227664	NM_017433.5(MYO3A):c.288G>A (p.Leu96=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2574770	NM_017433.5(MYO3A):c.303+3_303+6del	MYO3A	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1644125	NM_017433.5(MYO3A):c.303+13G>C	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279452	NM_017433.5(MYO3A):c.303+152T>A	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174339	NM_017433.5(MYO3A):c.303+159G>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246646	NM_017433.5(MYO3A):c.303+209A>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287810	NM_017433.5(MYO3A):c.303+287T>A	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289028	NM_017433.5(MYO3A):c.304-319G>A	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211396	NM_017433.5(MYO3A):c.304-287C>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260623	NM_017433.5(MYO3A):c.304-283T>C	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270745	NM_017433.5(MYO3A):c.304-171A>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232091	NM_017433.5(MYO3A):c.304-132A>C	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1417556	NM_017433.5(MYO3A):c.304-11T>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804851	NM_017433.5(MYO3A):c.304-6G>C	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2550884	NM_017433.5(MYO3A):c.311G>T (p.Ser104Ile)	MYO3A (S104I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 439958	NM_017433.5(MYO3A):c.315del (p.Gly106fs)	MYO3A (G106fs)	Deletion (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 299645	NM_017433.5(MYO3A):c.332T>C (p.Leu111Pro)	MYO3A (L111P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 618745	NM_017433.5(MYO3A):c.374C>T (p.Pro125Leu)	MYO3A (P125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754958	NM_017433.5(MYO3A):c.393A>C (p.Leu131Phe)	MYO3A (L131F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182277	NM_017433.5(MYO3A):c.409-248T>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201891	NM_017433.5(MYO3A):c.409-242T>C	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 164604	NM_017433.5(MYO3A):c.409-21TA[2]	MYO3A	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1642934	NM_017433.5(MYO3A):c.409-18A>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668395	NM_017433.5(MYO3A):c.409-9_409-5del	MYO3A	Deletion (intron variant)	not provided	GLikely benign
Select item 2103675	NM_017433.5(MYO3A):c.409-6T>C	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504639	NM_017433.5(MYO3A):c.424C>T (p.His142Tyr)	MYO3A (H142Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1127897	NM_017433.5(MYO3A):c.426T>G (p.His142Gln)	MYO3A (H142Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GConflicting classifications of pathogenicity
Select item 3348347	NM_017433.5(MYO3A):c.439A>G (p.Ile147Val)	MYO3A (I147V)	Single nucleotide variant (missense variant)	MYO3A-related disorder	GUncertain significance
Select item 1304456	NM_017433.5(MYO3A):c.457G>A (p.Gly153Ser)	MYO3A (G153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505199	NM_017433.5(MYO3A):c.472T>C (p.Leu158=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1416904	NM_017433.5(MYO3A):c.479C>T (p.Thr160Met)	MYO3A (T160M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45817	NM_017433.5(MYO3A):c.480G>T (p.Thr160=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GBenign
Select item 2410258	NM_017433.5(MYO3A):c.487G>A (p.Gly163Arg)	MYO3A (G163R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2031128	NM_017433.5(MYO3A):c.508+2T>C	MYO3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2978474	NM_017433.5(MYO3A):c.508+19G>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089904	NM_017433.5(MYO3A):c.508+19G>A	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678702	NM_017433.5(MYO3A):c.508+36A>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250751	NM_017433.5(MYO3A):c.508+180G>A	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234675	NM_017433.5(MYO3A):c.508+236C>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GBenign

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