ClinVar for MedGen (Select 19860) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075735	NM_001377.3:c.[5971A>T];[6010A>G]			Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3075704	NM_001377.3(DYNC2H1):c.962C>T (p.Pro321Leu)	DYNC2H1 (P321L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3065880	NM_001377.3(DYNC2H1):c.2149C>T (p.Arg717Cys)	DYNC2H1 (R717C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 3065847	NM_001377.3(DYNC2H1):c.4069_4070insT (p.Gly1357fs)	DYNC2H1 (G1357fs)	Insertion (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3065830	NM_001376.5(DYNC1H1):c.12628T>C (p.Ser4210Pro)	DYNC1H1 (S4210P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 3065257	NM_001377.3(DYNC2H1):c.5445dup (p.Ala1816fs)	DYNC2H1 (A1816fs)	Duplication (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3065016	NM_001377.3(DYNC2H1):c.1468C>T (p.Arg490Cys)	DYNC2H1 (R490C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 3064425	NM_001377.3(DYNC2H1):c.8484_8485del (p.Gly2829fs)	DYNC2H1 (G2829fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3064165	NM_001377.3(DYNC2H1):c.6035C>T (p.Ala2012Val)	DYNC2H1 (A2012V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3061880	NM_001377.3(DYNC2H1):c.4378+3A>G	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2920812	NM_001377.3(DYNC2H1):c.9425C>T (p.Ser3142Leu)	DYNC2H1 (S3142L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2690593	NM_001377.3(DYNC2H1):c.11390dup (p.Asn3797fs)	DYNC2H1 (N3797fs +1 more)	Duplication (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2688988	NM_001377.3(DYNC2H1):c.12567-3C>T	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2664834	NM_001377.3(DYNC2H1):c.2579_2580delinsAA (p.Trp860Ter)	DYNC2H1 (W860*)	Indel (nonsense)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2627966	NM_001377.3(DYNC2H1):c.8349T>A (p.Asp2783Glu)	DYNC2H1 (D2783E)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2584791	NM_001377.3(DYNC2H1):c.8951del (p.Pro2983_Leu2984insTer)	DYNC2H1	Deletion (nonsense)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2584790	NM_001377.3(DYNC2H1):c.7507G>T (p.Val2503Phe)	DYNC2H1 (V2503F)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2579656	NM_001377.3(DYNC2H1):c.6439G>T (p.Asp2147Tyr)	DYNC2H1 (D2147Y)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2579640	NM_001377.3(DYNC2H1):c.6477G>A (p.Gln2159=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2574678	NM_001377.3(DYNC2H1):c.7276C>T (p.Arg2426Cys)	DYNC2H1 (R2426C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2572527	NM_001377.3(DYNC2H1):c.2443G>C (p.Gly815Arg)	DYNC2H1 (G815R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2572451	NM_001377.3(DYNC2H1):c.7547C>G (p.Ser2516Ter)	DYNC2H1 (S2516*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2441707	NM_001377.3(DYNC2H1):c.4360C>A (p.Leu1454Met)	DYNC2H1 (L1454M)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441077	NM_001377.3(DYNC2H1):c.7912T>A (p.Ser2638Thr)	DYNC2H1 (S2638T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441076	NM_001377.3(DYNC2H1):c.4166C>T (p.Thr1389Ile)	DYNC2H1 (T1389I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441075	NM_001377.3(DYNC2H1):c.9041G>T (p.Arg3014Ile)	DYNC2H1 (R3014I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441074	NM_001377.3(DYNC2H1):c.10655A>C (p.Gln3552Pro)	DYNC2H1 (Q3552P +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441073	NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2441072	NM_001377.3(DYNC2H1):c.7793C>G (p.Pro2598Arg)	DYNC2H1 (P2598R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441071	NM_001377.3(DYNC2H1):c.3188C>G (p.Pro1063Arg)	DYNC2H1 (P1063R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441070	NM_001377.3(DYNC2H1):c.1037A>G (p.Tyr346Cys)	DYNC2H1 (Y346C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2439947	NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)	DYNC2H1 (Q1407*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2255327	NM_001377.3(DYNC2H1):c.11135G>A (p.Arg3712His)	DYNC2H1 (R3712H +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 2187040	NM_001376.5(DYNC1H1):c.6208G>A (p.Val2070Ile)	DYNC1H1 (V2070I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 2158349	NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)	DYNC2H1 (S4044A +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 2105252	NM_001377.3(DYNC2H1):c.6559G>A (p.Glu2187Lys)	DYNC2H1 (E2187K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 2079827	NM_001377.3(DYNC2H1):c.2624A>G (p.His875Arg)	DYNC2H1 (H875R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 1803487	NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)	DYNC2H1 (W4154* +1 more)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +2 more	GPathogenic
Select item 1802678	NM_001377.3(DYNC2H1):c.9440+4A>G	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 1802677	NM_001377.3(DYNC2H1):c.6381dup (p.Ser2128fs)	DYNC2H1 (S2128fs)	Duplication (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 1709843	NM_001377.3(DYNC2H1):c.7172A>G (p.Asn2391Ser)	DYNC2H1 (N2391S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1707477	NM_001377.3(DYNC2H1):c.6464G>A (p.Trp2155Ter)	DYNC2H1 (W2155*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1699210	NM_001377.3(DYNC2H1):c.5357G>C (p.Gly1786Ala)	DYNC2H1 (G1786A)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1699173	NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr)	DYNC2H1 (M2008T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 1698390	NM_001377.3(DYNC2H1):c.3446G>A (p.Trp1149Ter)	DYNC2H1 (W1149*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1685309	NM_001377.3(DYNC2H1):c.12457-1G>C	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 3 +1 more	GLikely pathogenic
Select item 1685307	NM_001377.3(DYNC2H1):c.5559-1G>C	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 1683449	NM_001377.3(DYNC2H1):c.4429A>T (p.Lys1477Ter)	DYNC2H1 (K1477*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1683440	NM_001377.3(DYNC2H1):c.2T>C (p.Met1Thr)	DYNC2H1 (M1T)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1683430	NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg)	DYNC2H1 (G3774R +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 1683422	NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg)	DYNC2H1 (G2658R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 1679489	NM_001377.3(DYNC2H1):c.10606-14A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1570844	NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +1 more	GLikely benign
Select item 1549900	NM_001377.3(DYNC2H1):c.4762+20T>C	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GLikely benign
Select item 1546166	NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 1460112	NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)	DYNC2H1 (Y2770*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1377745	NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser)	DYNC2H1 (G808S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1344648	NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys)	DYNC2H1 (Y3213C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1333515	NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter)	DYNC2H1 (R167*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 1332719	NM_001377.3(DYNC2H1):c.12238C>T (p.Gln4080Ter)	DYNC2H1 (Q4080* +1 more)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1330422	NM_001377.3(DYNC2H1):c.1953+14T>C	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GBenign/Likely benign
Select item 1330380	NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro)	DYNC2H1 (L3017P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1329946	NM_001377.3(DYNC2H1):c.1856A>G (p.Gln619Arg)	DYNC2H1 (Q619R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1322793	NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter)	DYNC2H1 (Q1365*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1320477	NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr)	DYNC2H1 (I1977T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299351	NM_001377.3(DYNC2H1):c.9313C>T (p.Arg3105Ter)	DYNC2H1 (R3105*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 1255527	NM_001377.3(DYNC2H1):c.9107+34G>A	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GBenign
Select item 1252018	NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys)	DYNC2H1 (E1111K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1248288	NM_001377.3(DYNC2H1):c.12156+23G>A	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GBenign
Select item 1229086	NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT	DYNC2H1	Insertion (intron variant)	not provided +2 more	GBenign
Select item 1224371	NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter)	DYNC2H1 (R82*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1217223	NM_194313.4(KIF24):c.1565A>G (p.Asn522Ser)	KIF24 (N522S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1210118	NM_001377.3(DYNC2H1):c.2106+3A>T	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1210117	NM_001377.3(DYNC2H1):c.11483T>G (p.Ile3828Arg)	DYNC2H1 (I3828R +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1177413	NM_001377.3(DYNC2H1):c.126C>A (p.Phe42Leu)	DYNC2H1 (F42L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1174980	NM_001377.3(DYNC2H1):c.3574-8del	DYNC2H1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1031040	NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe)	DYNC2H1 (L324F)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 1031038	NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val)	DYNC2H1 (F21V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1031037	NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter)	DYNC2H1 (R1726*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +2 more	GPathogenic
Select item 1031036	NM_001377.3(DYNC2H1):c.4231T>C (p.Cys1411Arg)	DYNC2H1 (C1411R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1015731	NM_001377.3(DYNC2H1):c.2974G>A (p.Asp992Asn)	DYNC2H1 (D992N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 997839	NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter)	DYNC2H1 (W179*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 997838	NM_001377.3(DYNC2H1):c.872G>T (p.Cys291Phe)	DYNC2H1 (C291F)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 997837	NM_001377.3(DYNC2H1):c.11231A>T (p.Glu3744Val)	DYNC2H1 (E3744V +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 997836	NM_001377.3(DYNC2H1):c.3459-1G>A	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 997835	NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter)	DYNC2H1 (Q3273*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 995611	NM_001377.3(DYNC2H1):c.6700A>T (p.Thr2234Ser)	DYNC2H1 (T2234S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 994255	NM_001377.3(DYNC2H1):c.8218A>G (p.Thr2740Ala)	DYNC2H1 (T2740A)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 994100	NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 994041	NM_001377.3(DYNC2H1):c.10042+7_10042+10del	DYNC2H1	Deletion (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 993984	NM_001377.3(DYNC2H1):c.1485+19G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 993931	NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser)	DYNC2H1 (L159S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 993843	NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His)	DYNC2H1 (R3004H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 993765	NM_001377.3(DYNC2H1):c.2719T>C (p.Cys907Arg)	DYNC2H1 (C907R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 993514	NM_001377.3(DYNC2H1):c.7540+20A>G	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GLikely benign
Select item 993463	NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His)	DYNC2H1 (R490H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 992905	NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn)	DYNC2H1 (S106N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 992904	NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His)	DYNC2H1 (R185H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 975903	NM_001377.3(DYNC2H1):c.7402C>G (p.Leu2468Val)	DYNC2H1 (L2468V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 975383	NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val)	DYNC2H1 (D1249V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance

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