ClinVar for Gene (Select 4641) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3401435	NM_001080779.2(MYO1C):c.493G>A (p.Glu165Lys)	MYO1C (E165K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401434	NM_001080779.2(MYO1C):c.2705G>A (p.Gly902Asp)	MYO1C (G867D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401433	NM_001080779.2(MYO1C):c.2857G>T (p.Ala953Ser)	MYO1C (A934S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401432	NM_001080779.2(MYO1C):c.1946T>G (p.Leu649Arg)	MYO1C (L614R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401431	NM_001080779.2(MYO1C):c.1648G>A (p.Glu550Lys)	LOC130059879, MYO1C (E550K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401430	NM_001080779.2(MYO1C):c.2504C>T (p.Thr835Met)	MYO1C (T835M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401429	NM_001080779.2(MYO1C):c.122C>G (p.Thr41Ser)	MYO1C (T22S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401428	NM_001080779.2(MYO1C):c.1399G>A (p.Ala467Thr)	MYO1C (A467T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401427	NM_001080779.2(MYO1C):c.173C>A (p.Thr58Asn)	MYO1C (T23N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401426	NM_001080779.2(MYO1C):c.505G>A (p.Ala169Thr)	MYO1C (A145T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401425	NM_001080779.2(MYO1C):c.1363A>C (p.Lys455Gln)	MYO1C (K436Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401424	NM_001080779.2(MYO1C):c.1702C>T (p.Arg568Trp)	MYO1C (R544W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401422	NM_001080779.2(MYO1C):c.203G>A (p.Arg68Gln)	MYO1C (R33Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401421	NM_001080779.2(MYO1C):c.1043C>T (p.Thr348Met)	MYO1C (T348M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401420	NM_001080779.2(MYO1C):c.512G>A (p.Arg171Gln)	MYO1C (R136Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401419	NM_001080779.2(MYO1C):c.3149A>G (p.Asn1050Ser)	MYO1C (N1050S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401418	NM_001080779.2(MYO1C):c.737G>A (p.Gly246Glu)	MYO1C (G211E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3401417	NM_001080779.2(MYO1C):c.308G>A (p.Arg103His)	MYO1C (R79H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391933	GRCh37/hg19 17p13.3-13.2(chr17:9475-3793447)x1	ABR, ASPA +67 more	Copy number loss	not provided	GPathogenic
Select item 3391858	GRCh37/hg19 17p13.3(chr17:908763-1516480)x3	ABR, BHLHA9 +7 more	Copy number gain	not provided	GPathogenic
Select item 3391836	GRCh37/hg19 17p13.3(chr17:572507-1429100)x1	ABR, BHLHA9 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 3389824	NM_001080779.2(MYO1C):c.318C>T (p.Gly106=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3388234	NM_001080779.2(MYO1C):c.892G>A (p.Glu298Lys)	MYO1C (E263K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297790	NM_001080779.2(MYO1C):c.2359A>C (p.Ile787Leu)	MYO1C (I763L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297789	NM_001080779.2(MYO1C):c.1375G>A (p.Glu459Lys)	MYO1C (E435K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297788	NM_001080779.2(MYO1C):c.688C>G (p.Gln230Glu)	MYO1C (Q206E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297787	NM_001080779.2(MYO1C):c.3005C>T (p.Thr1002Met)	MYO1C (T978M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297786	NM_001080779.2(MYO1C):c.1706A>G (p.Asn569Ser)	MYO1C (N550S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297785	NM_001080779.2(MYO1C):c.695A>C (p.His232Pro)	MYO1C (H232P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297784	NM_001080779.2(MYO1C):c.2086G>T (p.Val696Leu)	MYO1C (V661L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297783	NM_001080779.2(MYO1C):c.1841T>G (p.Ile614Ser)	MYO1C (I590S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243204	NC_000017.10:g.(?_882539)_(1565467_?)del	ABR, BHLHA9 +12 more	Deletion	not provided	GPathogenic
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3238924	NM_001080779.2(MYO1C):c.427G>A (p.Gly143Arg)	MYO1C (G108R +3 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238923	NM_001080779.2(MYO1C):c.775C>T (p.Arg259Trp)	MYO1C (R224W +3 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238922	NM_001080779.2(MYO1C):c.1232G>A (p.Trp411Ter)	MYO1C (W376* +3 more)	Single nucleotide variant (nonsense)	Meniere disease	GUncertain significance
Select item 3238921	NM_001080779.2(MYO1C):c.1316A>T (p.Asn439Ile)	MYO1C (N404I +3 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238920	NM_001080779.2(MYO1C):c.1351G>A (p.Glu451Lys)	MYO1C (E416K +3 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238919	NM_001080779.2(MYO1C):c.2252G>A (p.Arg751Gln)	MYO1C (R716Q +3 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3163375	NM_001080779.2(MYO1C):c.1030G>A (p.Val344Met)	MYO1C (V344M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163339	NM_001080779.2(MYO1C):c.488C>T (p.Ala163Val)	MYO1C (A139V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163334	NM_001080779.2(MYO1C):c.3060G>C (p.Gln1020His)	MYO1C (Q1020H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163296	NM_001080779.2(MYO1C):c.2735A>G (p.Gln912Arg)	MYO1C (Q893R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163252	NM_001080779.2(MYO1C):c.295C>A (p.Gln99Lys)	MYO1C (Q99K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163251	NM_001080779.2(MYO1C):c.293G>A (p.Arg98Gln)	MYO1C (R74Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163240	NM_001080779.2(MYO1C):c.1707C>A (p.Asn569Lys)	MYO1C (N545K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163237	NM_001080779.2(MYO1C):c.1634T>G (p.Leu545Arg)	MYO1C (L545R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163235	NM_001080779.2(MYO1C):c.1628G>A (p.Arg543His)	MYO1C (R519H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163223	NM_001080779.2(MYO1C):c.245C>T (p.Pro82Leu)	MYO1C (P63L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163220	NM_001080779.2(MYO1C):c.1425C>G (p.Asn475Lys)	MYO1C (N475K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163210	NM_001080779.2(MYO1C):c.116C>T (p.Ala39Val)	MYO1C (A20V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163206	NM_001080779.2(MYO1C):c.1165A>G (p.Thr389Ala)	MYO1C (T354A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067940	NM_001080779.2(MYO1C):c.75+5G>A	MYO1C	Single nucleotide variant (intron variant)	Miller Dieker syndrome	GUncertain significance
Select item 3063518	GRCh37/hg19 17p13.3(chr17:1070465-1413071)x1	ABR, BHLHA9 +5 more	Copy number loss	not specified	GPathogenic
Select item 3063489	GRCh37/hg19 17p13.3(chr17:1139864-1703566)x3	BHLHA9, CRK +15 more	Copy number gain	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3057534	NM_001080779.2(MYO1C):c.123C>T (p.Thr41=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
Select item 3055282	NM_001080779.2(MYO1C):c.1483-3dup	MYO1C	Duplication (intron variant)	MYO1C-related disorder	GLikely benign
Select item 3052648	NM_001080779.2(MYO1C):c.1092+9G>A	MYO1C	Single nucleotide variant (intron variant)	MYO1C-related disorder	GLikely benign
Select item 3051574	NM_001080779.2(MYO1C):c.2409C>G (p.Pro803=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
Select item 3047577	NM_001080779.2(MYO1C):c.1311C>T (p.Cys437=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
Select item 3046728	NM_001080779.2(MYO1C):c.2625C>T (p.Ala875=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
Select item 3045414	NM_001080779.2(MYO1C):c.2994C>T (p.His998=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
Select item 3044593	NM_001080779.2(MYO1C):c.537G>A (p.Pro179=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
Select item 3041503	NM_001080779.2(MYO1C):c.2136-10G>A	MYO1C	Single nucleotide variant (intron variant)	MYO1C-related disorder	GLikely benign
Select item 3038484	NM_001080779.2(MYO1C):c.2070G>A (p.Pro690=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
Select item 3036013	NM_001080779.2(MYO1C):c.1716+7A>T	MYO1C	Single nucleotide variant (intron variant)	MYO1C-related disorder	GLikely benign
Select item 2689513	NM_001080779.2(MYO1C):c.2410G>A (p.Glu804Lys)	MYO1C (E769K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684829	GRCh37/hg19 17p13.3(chr17:1240943-1397655)x3	CRK, MYO1C +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684828	GRCh37/hg19 17p13.3(chr17:1203617-1429687)x3	CRK, INPP5K +4 more	Copy number gain	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647182	NM_001080779.2(MYO1C):c.2415C>T (p.Asn805=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618277	NM_001080779.2(MYO1C):c.1858C>T (p.Pro620Ser)	MYO1C (P596S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615230	NM_001080779.2(MYO1C):c.700G>A (p.Glu234Lys)	MYO1C (E199K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613317	NM_001080779.2(MYO1C):c.2425C>G (p.Leu809Val)	MYO1C (L785V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604459	NM_001080779.2(MYO1C):c.2842G>A (p.Val948Ile)	MYO1C (V924I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600661	NM_001080779.2(MYO1C):c.577G>T (p.Asp193Tyr)	MYO1C (D174Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597439	NM_001080779.2(MYO1C):c.2428G>C (p.Asp810His)	MYO1C (D791H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596852	NM_001080779.2(MYO1C):c.3122C>T (p.Ser1041Leu)	MYO1C (S1022L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594536	NM_001080779.2(MYO1C):c.2836G>A (p.Ala946Thr)	MYO1C (A927T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2555166	NM_001080779.2(MYO1C):c.2765C>T (p.Ala922Val)	MYO1C (A922V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553225	NM_001080779.2(MYO1C):c.1365G>C (p.Lys455Asn)	MYO1C (K420N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551428	NM_001080779.2(MYO1C):c.1129G>T (p.Ala377Ser)	MYO1C (A353S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543968	NM_001080779.2(MYO1C):c.2201G>A (p.Arg734Gln)	MYO1C (R699Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529565	NM_001080779.2(MYO1C):c.226A>C (p.Ile76Leu)	MYO1C (I76L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522330	NM_001080779.2(MYO1C):c.1763G>T (p.Arg588Leu)	MYO1C (R553L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517931	NM_001080779.2(MYO1C):c.511C>T (p.Arg171Trp)	MYO1C (R136W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508519	NM_001080779.2(MYO1C):c.1216G>A (p.Val406Met)	MYO1C (V387M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486621	NM_001080779.2(MYO1C):c.1862C>T (p.Ala621Val)	MYO1C (A621V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481589	NM_001080779.2(MYO1C):c.499G>A (p.Gly167Arg)	MYO1C (G132R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476715	NM_001080779.2(MYO1C):c.2542C>T (p.Arg848Trp)	MYO1C (R829W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475522	NM_001080779.2(MYO1C):c.2884G>A (p.Ala962Thr)	MYO1C (A927T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467617	NM_001080779.2(MYO1C):c.205C>T (p.Arg69Trp)	MYO1C (R45W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461842	NM_001080779.2(MYO1C):c.3037G>A (p.Val1013Met)	MYO1C (V1013M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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