ClinVar for Gene (Select 4644) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372212	NM_001382347.1(MYO5A):c.4568G>A (p.Arg1523His)	MYO5A (R1471H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368910	NM_001382347.1(MYO5A):c.2141T>C (p.Met714Thr)	LOC130057087, MYO5A (M714T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368909	NM_001382347.1(MYO5A):c.1094G>T (p.Gly365Val)	MYO5A (G365V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354850	NM_001382347.1(MYO5A):c.985C>T (p.Leu329Phe)	MYO5A (L329F +1 more)	Single nucleotide variant (missense variant)	MYO5A-related disorder	GUncertain significance
Select item 3353514	NM_001382347.1(MYO5A):c.3732C>T (p.Ala1244=)	MYO5A	Single nucleotide variant (synonymous variant)	MYO5A-related disorder	GLikely benign
Select item 3352350	NM_001382347.1(MYO5A):c.2515G>A (p.Ala839Thr)	MYO5A (A839T +1 more)	Single nucleotide variant (missense variant)	MYO5A-related disorder	GUncertain significance
Select item 3337371	NM_001382347.1(MYO5A):c.572A>G (p.Asn191Ser)	MYO5A (N191S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297885	NM_001382347.1(MYO5A):c.2645A>G (p.Tyr882Cys)	MYO5A (Y882C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297884	NM_001382347.1(MYO5A):c.3373A>G (p.Ile1125Val)	MYO5A (I1125V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297883	NM_001382347.1(MYO5A):c.1221C>G (p.Ile407Met)	MYO5A (I407M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297882	NM_001382347.1(MYO5A):c.567G>T (p.Glu189Asp)	MYO5A (E189D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297881	NM_001382347.1(MYO5A):c.5167G>T (p.Ala1723Ser)	MYO5A (A1695S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297880	NM_001382347.1(MYO5A):c.1798A>T (p.Ser600Cys)	MYO5A (S624C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297879	NM_001382347.1(MYO5A):c.5523G>C (p.Gln1841His)	MYO5A (Q1816H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297877	NM_001382347.1(MYO5A):c.2539T>C (p.Tyr847His)	MYO5A (Y871H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297876	NM_001382347.1(MYO5A):c.2573G>A (p.Arg858His)	MYO5A (R858H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297875	NM_001382347.1(MYO5A):c.1650C>G (p.Ile550Met)	MYO5A (I550M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297874	NM_001382347.1(MYO5A):c.1853A>C (p.Lys618Thr)	MYO5A (K618T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297873	NM_001382347.1(MYO5A):c.3768C>T (p.Ser1256=)	MYO5A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3297872	NM_001382347.1(MYO5A):c.5495G>A (p.Arg1832His)	MYO5A (R1780H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297871	NM_001382347.1(MYO5A):c.1132C>T (p.Arg378Trp)	MYO5A (R378W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297870	NM_001382347.1(MYO5A):c.2314C>T (p.Arg772Trp)	MYO5A (R772W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297869	NM_001382347.1(MYO5A):c.4093G>A (p.Glu1365Lys)	MYO5A (E1362K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297867	NM_001382347.1(MYO5A):c.2002T>C (p.Phe668Leu)	MYO5A (F668L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297866	NM_001382347.1(MYO5A):c.4915G>A (p.Val1639Met)	MYO5A (V1638M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250986	NM_001382347.1(MYO5A):c.3717C>T (p.Ala1239=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3243836	NC_000015.9:g.(?_52635294)_(52635414_?)del	MYO5A	Deletion	not provided	GUncertain significance
Select item 3234633	NM_001382347.1(MYO5A):c.2952G>C (p.Arg984=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165107	NM_001382347.1(MYO5A):c.893G>T (p.Gly298Val)	MYO5A (G322V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165076	NM_001382347.1(MYO5A):c.4879C>G (p.Leu1627Val)	MYO5A (L1627V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165069	NM_001382347.1(MYO5A):c.4738T>G (p.Ser1580Ala)	MYO5A (S1555A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165061	NM_001382347.1(MYO5A):c.460G>A (p.Glu154Lys)	MYO5A (E154K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165042	NM_001382347.1(MYO5A):c.4102C>T (p.Arg1368Cys)	MYO5A (R1365C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165038	NM_001382347.1(MYO5A):c.3970C>G (p.Leu1324Val)	MYO5A (L1324V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165025	NM_001382347.1(MYO5A):c.3683C>T (p.Ala1228Val)	MYO5A (A1228V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165016	NM_001382347.1(MYO5A):c.3368A>C (p.Glu1123Ala)	MYO5A (E1147A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165012	NM_001382347.1(MYO5A):c.3211C>T (p.Leu1071Phe)	MYO5A (L1095F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164985	NM_001382347.1(MYO5A):c.3025A>G (p.Ile1009Val)	MYO5A (I1009V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164959	NM_001382347.1(MYO5A):c.2908C>T (p.Arg970Cys)	MYO5A (R970C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164935	NM_001382347.1(MYO5A):c.2572C>T (p.Arg858Cys)	MYO5A (R882C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164904	NM_001382347.1(MYO5A):c.1832C>T (p.Pro611Leu)	MYO5A (P635L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164900	NM_001382347.1(MYO5A):c.1826G>A (p.Arg609His)	MYO5A (R633H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164888	NM_001382347.1(MYO5A):c.1684G>A (p.Glu562Lys)	MYO5A (E562K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164885	NM_001382347.1(MYO5A):c.1601A>G (p.Lys534Arg)	MYO5A (K534R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164879	NM_001382347.1(MYO5A):c.1432A>T (p.Met478Leu)	MYO5A (M502L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063584	NM_001382347.1(MYO5A):c.5034C>G (p.Ile1678Met)	MYO5A (I1626M +5 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1	GUncertain significance
Select item 3063583	NM_001382347.1(MYO5A):c.2438G>A (p.Arg813His)	MYO5A (R813H +1 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1	GUncertain significance
Select item 3058721	NM_001382347.1(MYO5A):c.4893C>T (p.Ala1631=)	MYO5A	Single nucleotide variant (synonymous variant)	MYO5A-related disorder	GLikely benign
Select item 3050475	NM_001382347.1(MYO5A):c.3192G>A (p.Thr1064=)	MYO5A	Single nucleotide variant (synonymous variant)	MYO5A-related disorder	GLikely benign
Select item 3047714	NM_001382347.1(MYO5A):c.4951+3A>G	MYO5A	Single nucleotide variant (intron variant)	MYO5A-related disorder	GLikely benign
Select item 3042786	NM_001382347.1(MYO5A):c.2715A>G (p.Leu905=)	MYO5A	Single nucleotide variant (synonymous variant)	MYO5A-related disorder	GLikely benign
Select item 3039602	NM_001382347.1(MYO5A):c.4952-25_4952-23del	MYO5A	Deletion (intron variant)	MYO5A-related disorder	GLikely benign
Select item 3039146	NM_001382347.1(MYO5A):c.2420+4G>A	MYO5A	Single nucleotide variant (intron variant)	MYO5A-related disorder	GLikely benign
Select item 3032914	NM_001382347.1(MYO5A):c.735G>A (p.Glu245=)	MYO5A	Single nucleotide variant (synonymous variant)	MYO5A-related disorder	GLikely benign
Select item 3025554	NM_001382347.1(MYO5A):c.268A>C (p.Arg90=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025108	NM_001382347.1(MYO5A):c.1329A>G (p.Thr443=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018601	NM_001382347.1(MYO5A):c.27+10C>T	LOC130057090, MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010004	NM_001382347.1(MYO5A):c.2208+14C>T	LOC130057087, MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989725	NM_001382347.1(MYO5A):c.1669-12A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971835	NM_001382347.1(MYO5A):c.2099+17dup	MYO5A	Duplication (intron variant)	not provided	GBenign
Select item 2967832	NM_001382347.1(MYO5A):c.708T>C (p.Gly236=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964831	NM_001382347.1(MYO5A):c.4041-17A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956193	NM_001382347.1(MYO5A):c.4062G>A (p.Gln1354=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955427	NM_001382347.1(MYO5A):c.2012+19C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915645	NM_001382347.1(MYO5A):c.2208+8T>C	LOC130057087, MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879435	NM_001382347.1(MYO5A):c.1914+11G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873318	NM_001382347.1(MYO5A):c.4408+17T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870246	NM_001382347.1(MYO5A):c.2012+9T>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814421	NM_001382347.1(MYO5A):c.1915-6A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794337	NM_001382347.1(MYO5A):c.3332A>G (p.Lys1111Arg)	MYO5A (K1111R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780083	NM_001382347.1(MYO5A):c.3411A>G (p.Pro1137=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748884	NM_001382347.1(MYO5A):c.4041-4G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737683	NM_001382347.1(MYO5A):c.1101C>T (p.Asp367=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716449	NM_001382347.1(MYO5A):c.3309+9_3309+12del	MYO5A	Deletion (intron variant)	not provided	GLikely benign
Select item 2713701	NM_001382347.1(MYO5A):c.3622-6A>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696084	NM_001382347.1(MYO5A):c.2086G>A (p.Gly696Ser)	MYO5A (G720S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684760	GRCh37/hg19 15q21.2-21.3(chr15:52774308-52998571)x3	ARPP19, ATOSA +1 more	Copy number gain	not provided	GUncertain significance
Select item 2665011	GRCh38/hg38 15q21.2(chr15:52095744-52533191)	LOC130057077, LOC130057078 +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 2661988	NM_001382347.1(MYO5A):c.4976C>T (p.Thr1659Met)	MYO5A (T1607M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645360	NM_001382347.1(MYO5A):c.1201G>A (p.Asp401Asn)	MYO5A (D401N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645359	NM_001382347.1(MYO5A):c.3131G>A (p.Arg1044His)	MYO5A (R1044H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645358	NM_001382347.1(MYO5A):c.4349C>T (p.Thr1450Met)	MYO5A (T1398M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645357	NM_001382347.1(MYO5A):c.4764A>G (p.Arg1588=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645356	NM_001382347.1(MYO5A):c.5574A>G (p.Pro1858=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627586	NM_001382347.1(MYO5A):c.1958C>T (p.Thr653Ile)	MYO5A (T653I +1 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1	GUncertain significance
Select item 2614146	NM_001382347.1(MYO5A):c.2986C>T (p.Arg996Trp)	MYO5A (R996W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612051	NM_001382347.1(MYO5A):c.2438G>T (p.Arg813Leu)	MYO5A (R813L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611641	NM_001382347.1(MYO5A):c.1103A>G (p.Tyr368Cys)	MYO5A (Y392C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609189	NM_001382347.1(MYO5A):c.1817C>G (p.Ser606Cys)	MYO5A (S630C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601056	NM_001382347.1(MYO5A):c.1792G>A (p.Ala598Thr)	MYO5A (A598T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600026	NM_001382347.1(MYO5A):c.3361G>A (p.Glu1121Lys)	MYO5A (E1121K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599216	NM_001382347.1(MYO5A):c.2329A>C (p.Ile777Leu)	MYO5A (I777L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576660	NM_001382347.1(MYO5A):c.1825C>T (p.Arg609Cys)	MYO5A (R609C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572184	NM_001382347.1(MYO5A):c.2770G>A (p.Gly924Ser)	MYO5A (G924S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2561434	NM_001382347.1(MYO5A):c.1028G>A (p.Arg343Gln)	MYO5A (R367Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560822	NM_001382347.1(MYO5A):c.5038G>A (p.Asp1680Asn)	MYO5A (D1652N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556876	NM_001382347.1(MYO5A):c.1870C>T (p.Pro624Ser)	MYO5A (P648S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555503	NM_001382347.1(MYO5A):c.3617T>G (p.Leu1206Arg)	MYO5A (L1206R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552746	NM_001382347.1(MYO5A):c.1876C>A (p.Gln626Lys)	MYO5A (Q650K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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