ClinVar for Gene (Select 4651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297667	NM_012334.3(MYO10):c.3229C>A (p.Gln1077Lys)	MYO10 (Q1077K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297666	NM_012334.3(MYO10):c.3818C>A (p.Thr1273Asn)	MYO10 (T1273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297665	NM_012334.3(MYO10):c.5587C>T (p.Arg1863Cys)	MYO10 (R1863C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297664	NM_012334.3(MYO10):c.2837A>G (p.Asn946Ser)	MYO10 (N946S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297663	NM_012334.3(MYO10):c.2617G>A (p.Glu873Lys)	MYO10 (E873K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297662	NM_012334.3(MYO10):c.4563T>A (p.Asp1521Glu)	MYO10 (D1521E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297661	NM_012334.3(MYO10):c.1163C>T (p.Pro388Leu)	MYO10 (P388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297660	NM_012334.3(MYO10):c.5818A>C (p.Met1940Leu)	MYO10 (M1940L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297659	NM_012334.3(MYO10):c.5235T>G (p.Phe1745Leu)	MYO10 (F1745L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297657	NM_012334.3(MYO10):c.4079G>A (p.Arg1360Gln)	MYO10 (R1360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160711	NM_012334.3(MYO10):c.91A>G (p.Ile31Val)	MYO10 (I31V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160704	NM_012334.3(MYO10):c.6160C>A (p.Gln2054Lys)	MYO10 (Q2054K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160693	NM_012334.3(MYO10):c.6043G>A (p.Asp2015Asn)	MYO10 (D2015N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160689	NM_012334.3(MYO10):c.6026C>T (p.Thr2009Met)	MYO10 (T2009M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160686	NM_012334.3(MYO10):c.5932G>A (p.Asp1978Asn)	MYO10 (D1978N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160683	NM_012334.3(MYO10):c.5802G>T (p.Met1934Ile)	MYO10 (M1934I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160680	NM_012334.3(MYO10):c.5762G>A (p.Arg1921Gln)	MYO10 (R1921Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160676	NM_012334.3(MYO10):c.5753C>A (p.Ser1918Tyr)	MYO10 (S1918Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160672	NM_012334.3(MYO10):c.5672G>A (p.Arg1891Gln)	MYO10 (R1891Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160669	NM_012334.3(MYO10):c.5645C>A (p.Thr1882Lys)	MYO10 (T1882K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160664	NM_012334.3(MYO10):c.5627G>A (p.Arg1876Gln)	MYO10 (R1876Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160660	NM_012334.3(MYO10):c.5582A>G (p.Lys1861Arg)	MYO10 (K1861R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160639	NM_012334.3(MYO10):c.5453G>T (p.Gly1818Val)	MYO10 (G1818V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160638	NM_012334.3(MYO10):c.542C>G (p.Ser181Cys)	MYO10 (S181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160632	NM_012334.3(MYO10):c.5354A>T (p.Tyr1785Phe)	MYO10 (Y1785F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160625	NM_012334.3(MYO10):c.5158A>G (p.Thr1720Ala)	MYO10 (T1720A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160619	NM_012334.3(MYO10):c.4980T>G (p.Phe1660Leu)	MYO10 (F1660L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160614	NM_012334.3(MYO10):c.4808G>A (p.Arg1603Gln)	MYO10 (R1603Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160612	NM_012334.3(MYO10):c.4651G>T (p.Asp1551Tyr)	MYO10 (D1551Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160605	NM_012334.3(MYO10):c.445G>C (p.Asp149His)	MYO10 (D149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160592	NM_012334.3(MYO10):c.4019C>G (p.Ser1340Cys)	MYO10 (S1340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160586	NM_012334.3(MYO10):c.391C>T (p.Pro131Ser)	MYO10 (P131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160565	NM_012334.3(MYO10):c.3563T>C (p.Leu1188Pro)	MYO10 (L1188P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160562	NM_012334.3(MYO10):c.3541T>C (p.Phe1181Leu)	MYO10 (F1181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160558	NM_012334.3(MYO10):c.344C>T (p.Pro115Leu)	MYO10 (P115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160549	NM_012334.3(MYO10):c.3392C>T (p.Ser1131Leu)	MYO10 (S1131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160541	NM_012334.3(MYO10):c.3340G>T (p.Gly1114Cys)	MYO10 (G1114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160529	NM_012334.3(MYO10):c.3205G>A (p.Gly1069Ser)	MYO10 (G1069S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160525	NM_012334.3(MYO10):c.3194A>G (p.Asn1065Ser)	MYO10 (N1065S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160517	NM_012334.3(MYO10):c.3185G>A (p.Ser1062Asn)	MYO10 (S1062N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160514	NM_012334.3(MYO10):c.3149C>T (p.Thr1050Met)	MYO10 (T1050M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160490	NM_012334.3(MYO10):c.2773C>A (p.Gln925Lys)	MYO10 (Q925K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160484	NM_012334.3(MYO10):c.2737G>A (p.Glu913Lys)	MYO10 (E913K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160481	NM_012334.3(MYO10):c.2726T>G (p.Leu909Arg)	MYO10 (L909R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160459	NM_012334.3(MYO10):c.2425A>G (p.Arg809Gly)	MYO10 (R809G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160455	NM_012334.3(MYO10):c.2407A>C (p.Ile803Leu)	MYO10 (I803L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160447	NM_012334.3(MYO10):c.2195A>G (p.Gln732Arg)	MYO10 (Q732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160443	NM_012334.3(MYO10):c.2111C>T (p.Thr704Met)	MYO10 (T704M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160440	NM_012334.3(MYO10):c.2102G>A (p.Gly701Glu)	MYO10 (G701E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160435	NM_012334.3(MYO10):c.1979C>T (p.Ser660Leu)	MYO10 (S660L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160417	NM_012334.3(MYO10):c.1721A>G (p.Asn574Ser)	MYO10 (N574S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160415	NM_012334.3(MYO10):c.1664A>G (p.Tyr555Cys)	MYO10 (Y555C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160410	NM_012334.3(MYO10):c.1625A>G (p.Asn542Ser)	MYO10 (N542S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160395	NM_012334.3(MYO10):c.1267G>C (p.Gly423Arg)	MYO10 (G423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160381	NM_012334.3(MYO10):c.103C>T (p.Arg35Trp)	MYO10 (R35W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3064964	NM_012334.3(MYO10):c.841_844del (p.Ser281fs)	MYO10 (S281fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2672115	NM_012334.3(MYO10):c.88G>A (p.Gly30Ser)	MYO10 (G30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655370	NM_012334.3(MYO10):c.1620A>T (p.Ala540=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616957	NM_012334.3(MYO10):c.5479C>T (p.Leu1827Phe)	MYO10 (L1827F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616493	NM_012334.3(MYO10):c.1873A>G (p.Thr625Ala)	MYO10 (T625A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601619	NM_012334.3(MYO10):c.5753C>T (p.Ser1918Phe)	MYO10 (S1918F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595569	NM_012334.3(MYO10):c.3938A>G (p.Asp1313Gly)	MYO10 (D1313G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595300	NM_012334.3(MYO10):c.1586C>T (p.Ala529Val)	MYO10 (A529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594245	NM_012334.3(MYO10):c.5321C>T (p.Thr1774Ile)	MYO10 (T1774I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590089	NM_012334.3(MYO10):c.2729C>T (p.Ser910Leu)	MYO10 (S910L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588528	NM_012334.3(MYO10):c.563A>G (p.Glu188Gly)	MYO10 (E188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568951	NM_012334.3(MYO10):c.3710G>A (p.Arg1237His)	MYO10 (R1237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568836	NM_012334.3(MYO10):c.2674C>T (p.Arg892Cys)	MYO10 (R892C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554520	NM_012334.3(MYO10):c.4511C>G (p.Thr1504Ser)	MYO10 (T1504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553994	NM_012334.3(MYO10):c.3271T>C (p.Tyr1091His)	MYO10 (Y1091H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539863	NM_012334.3(MYO10):c.352A>G (p.Met118Val)	MYO10 (M118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537029	NM_012334.3(MYO10):c.3319G>A (p.Val1107Met)	MYO10 (V1107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536115	NM_012334.3(MYO10):c.3088T>G (p.Ser1030Ala)	MYO10 (S1030A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529639	NM_012334.3(MYO10):c.2449G>A (p.Glu817Lys)	MYO10 (E817K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527893	NM_012334.3(MYO10):c.146T>A (p.Ile49Asn)	MYO10 (I49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523479	NM_012334.3(MYO10):c.3404G>A (p.Arg1135Gln)	MYO10 (R1135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523271	NM_012334.3(MYO10):c.2764C>T (p.Arg922Trp)	MYO10 (R922W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523208	NM_012334.3(MYO10):c.707A>G (p.Gln236Arg)	MYO10 (Q236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522228	NM_012334.3(MYO10):c.1408G>C (p.Glu470Gln)	MYO10 (E470Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520951	NM_012334.3(MYO10):c.1817A>G (p.His606Arg)	MYO10 (H606R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520345	NM_012334.3(MYO10):c.1780C>T (p.Arg594Cys)	MYO10 (R594C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514858	NM_012334.3(MYO10):c.3794C>T (p.Thr1265Met)	MYO10 (T1265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513813	NM_012334.3(MYO10):c.2129A>G (p.Tyr710Cys)	MYO10 (Y710C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507799	NM_012334.3(MYO10):c.1439T>C (p.Val480Ala)	MYO10 (V480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507464	NM_012334.3(MYO10):c.5467C>G (p.Pro1823Ala)	MYO10 (P1823A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494767	NM_012334.3(MYO10):c.3845T>A (p.Ile1282Asn)	MYO10 (I1282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492134	NM_012334.3(MYO10):c.2371G>A (p.Ala791Thr)	MYO10 (A791T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490152	NM_012334.3(MYO10):c.3431C>T (p.Ser1144Leu)	MYO10 (S1144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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