ClinVar for Gene (Select 4641) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GLikely benign
Select item 3055282	NM_001080779.2(MYO1C):c.1483-3dup	MYO1C	Duplication (intron variant)	MYO1C-related condition	GLikely benign
Select item 3052648	NM_001080779.2(MYO1C):c.1092+9G>A	MYO1C	Single nucleotide variant (intron variant)	MYO1C-related condition	GLikely benign
Select item 3051574	NM_001080779.2(MYO1C):c.2409C>G (p.Pro803=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related condition	GLikely benign
Select item 3047577	NM_001080779.2(MYO1C):c.1311C>T (p.Cys437=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related condition	GLikely benign
Select item 3046728	NM_001080779.2(MYO1C):c.2625C>T (p.Ala875=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related condition	GLikely benign
Select item 3045414	NM_001080779.2(MYO1C):c.2994C>T (p.His998=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related condition	GLikely benign
Select item 3044593	NM_001080779.2(MYO1C):c.537G>A (p.Pro179=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related condition	GLikely benign
Select item 3041503	NM_001080779.2(MYO1C):c.2136-10G>A	MYO1C	Single nucleotide variant (intron variant)	MYO1C-related condition	GLikely benign
Select item 3038484	NM_001080779.2(MYO1C):c.2070G>A (p.Pro690=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related condition	GLikely benign
Select item 3036013	NM_001080779.2(MYO1C):c.1716+7A>T	MYO1C	Single nucleotide variant (intron variant)	MYO1C-related condition	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)	Inborn genetic diseases	GUncertain significance
Select item 2615230	NM_001080779.2(MYO1C):c.700G>A (p.Glu234Lys)	MYO1C (E199K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613317	NM_001080779.2(MYO1C):c.2425C>G (p.Leu809Val)	MYO1C (L785V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604459	NM_001080779.2(MYO1C):c.2842G>A (p.Val948Ile)	MYO1C (V924I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600661	NM_001080779.2(MYO1C):c.577G>T (p.Asp193Tyr)	MYO1C (D174Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597439	NM_001080779.2(MYO1C):c.2428G>C (p.Asp810His)	MYO1C (D791H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596852	NM_001080779.2(MYO1C):c.3122C>T (p.Ser1041Leu)	MYO1C (S1022L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594536	NM_001080779.2(MYO1C):c.2836G>A (p.Ala946Thr)	MYO1C (A927T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +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)	Inborn genetic diseases	GUncertain significance
Select item 2553225	NM_001080779.2(MYO1C):c.1365G>C (p.Lys455Asn)	MYO1C (K420N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551428	NM_001080779.2(MYO1C):c.1129G>T (p.Ala377Ser)	MYO1C (A353S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543968	NM_001080779.2(MYO1C):c.2201G>A (p.Arg734Gln)	MYO1C (R699Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529565	NM_001080779.2(MYO1C):c.226A>C (p.Ile76Leu)	MYO1C (I76L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522330	NM_001080779.2(MYO1C):c.1763G>T (p.Arg588Leu)	MYO1C (R553L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517931	NM_001080779.2(MYO1C):c.511C>T (p.Arg171Trp)	MYO1C (R136W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508519	NM_001080779.2(MYO1C):c.1216G>A (p.Val406Met)	MYO1C (V387M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486621	NM_001080779.2(MYO1C):c.1862C>T (p.Ala621Val)	MYO1C (A621V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481589	NM_001080779.2(MYO1C):c.499G>A (p.Gly167Arg)	MYO1C (G132R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476715	NM_001080779.2(MYO1C):c.2542C>T (p.Arg848Trp)	MYO1C (R829W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475522	NM_001080779.2(MYO1C):c.2884G>A (p.Ala962Thr)	MYO1C (A927T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2467617	NM_001080779.2(MYO1C):c.205C>T (p.Arg69Trp)	MYO1C (R45W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461842	NM_001080779.2(MYO1C):c.3037G>A (p.Val1013Met)	MYO1C (V1013M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460521	NM_001080779.2(MYO1C):c.838G>A (p.Asp280Asn)	MYO1C (D256N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455247	NM_001080779.2(MYO1C):c.1049G>A (p.Arg350Gln)	MYO1C (R326Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454663	NM_001080779.2(MYO1C):c.394C>T (p.Arg132Trp)	MYO1C (R108W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	HIC1, GEMIN4 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	TIMM22, GEMIN4 +26 more	Deletion	not provided	GPathogenic
Select item 2426763	NC_000017.10:g.(?_882539)_(1387567_?)del	ABR, BHLHA9 +6 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	INPP5K, MIR22 +22 more	Deletion	not provided	GUncertain significance
Select item 2412323	NM_001080779.2(MYO1C):c.185C>T (p.Ala62Val)	MYO1C (A43V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2410145	NM_001080779.2(MYO1C):c.2469G>T (p.Gln823His)	MYO1C (Q804H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407634	NM_001080779.2(MYO1C):c.1153G>A (p.Val385Met)	MYO1C (V361M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398105	NM_001080779.2(MYO1C):c.1163G>T (p.Arg388Leu)	MYO1C (R388L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389620	NM_001080779.2(MYO1C):c.374G>A (p.Arg125Gln)	MYO1C (R101Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383906	NM_001080779.2(MYO1C):c.1129G>A (p.Ala377Thr)	MYO1C (A358T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383559	NM_001080779.2(MYO1C):c.850T>C (p.Trp284Arg)	MYO1C (W249R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379674	NM_001080779.2(MYO1C):c.314G>A (p.Arg105His)	MYO1C (R70H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373001	NM_001080779.2(MYO1C):c.1627C>T (p.Arg543Cys)	MYO1C (R508C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371589	NM_001080779.2(MYO1C):c.386C>T (p.Thr129Met)	MYO1C (T129M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367914	NM_001080779.2(MYO1C):c.536C>T (p.Pro179Leu)	MYO1C (P144L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363927	NM_001080779.2(MYO1C):c.1594C>T (p.Arg532Trp)	MYO1C (R513W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363602	NM_001080779.2(MYO1C):c.1384G>A (p.Glu462Lys)	MYO1C (E438K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350711	NM_001080779.2(MYO1C):c.2336A>G (p.Lys779Arg)	MYO1C (K744R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350541	NM_001080779.2(MYO1C):c.392G>A (p.Arg131His)	MYO1C (R107H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346548	NM_001080779.2(MYO1C):c.292C>T (p.Arg98Trp)	MYO1C (R63W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346451	NM_001080779.2(MYO1C):c.2180A>G (p.Glu727Gly)	MYO1C (E692G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329490	NM_001080779.2(MYO1C):c.2273A>T (p.Lys758Met)	MYO1C (K734M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324744	NM_001080779.2(MYO1C):c.2394C>A (p.His798Gln)	MYO1C (H774Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320836	NM_001080779.2(MYO1C):c.2833A>G (p.Asn945Asp)	MYO1C (N945D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320174	NM_001080779.2(MYO1C):c.2357C>A (p.Thr786Asn)	MYO1C (T767N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317152	NM_001080779.2(MYO1C):c.2488G>C (p.Asp830His)	MYO1C (D795H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310695	NM_001080779.2(MYO1C):c.1818G>A (p.Met606Ile)	MYO1C (M587I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308405	NM_001080779.2(MYO1C):c.2209C>G (p.Leu737Val)	MYO1C (L702V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300663	NM_001080779.2(MYO1C):c.1084G>A (p.Gly362Arg)	MYO1C (G338R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288755	NM_001080779.2(MYO1C):c.190A>G (p.Ile64Val)	MYO1C (I29V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267485	NM_001080779.2(MYO1C):c.358G>T (p.Ala120Ser)	MYO1C (A96S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262074	NM_001080779.2(MYO1C):c.2398C>T (p.Pro800Ser)	MYO1C (P765S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260468	NM_001080779.2(MYO1C):c.500G>T (p.Gly167Val)	MYO1C (G167V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247414	NM_001080779.2(MYO1C):c.674C>T (p.Ser225Leu)	MYO1C (S206L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244685	NM_001080779.2(MYO1C):c.385A>G (p.Thr129Ala)	MYO1C (T110A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244119	NM_001080779.2(MYO1C):c.325T>G (p.Phe109Val)	MYO1C (F109V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241851	NM_001080779.2(MYO1C):c.1616G>T (p.Arg539Leu)	MYO1C (R515L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220101	NM_001080779.2(MYO1C):c.1616G>A (p.Arg539Gln)	MYO1C (R504Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215997	NM_001080779.2(MYO1C):c.2401C>T (p.Arg801Cys)	MYO1C (R777C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214277	NM_001080779.2(MYO1C):c.2726G>A (p.Arg909Gln)	MYO1C (R874Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213556	NM_001080779.2(MYO1C):c.2789G>A (p.Arg930His)	MYO1C (R911H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1703618	GRCh37/hg19 17p13.3(chr17:525-1464281)	ABR, BHLHA9 +17 more	Copy number loss	Miller Dieker syndrome	GPathogenic
Select item 1675652	NM_001080779.2(MYO1C):c.3072G>A (p.Thr1024=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	MYO1C, NXN +17 more	Duplication	not provided	GUncertain significance
Select item 1340305	GRCh37/hg19 17p13.3(chr17:1176459-1570012)x3	CRK, INPP5K +8 more	Copy number gain	not provided	GPathogenic
Select item 1340219	GRCh37/hg19 17p13.3(chr17:1193547-1403538)x3	CRK, INPP5K +3 more	Copy number gain	not provided	GPathogenic
Select item 1340108	GRCh37/hg19 17p13.3(chr17:858365-1690452)x3	ABR, BHLHA9 +18 more	Copy number gain	not provided	GPathogenic

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