ClinVar for Gene (Select 79659) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086503	NM_001377.3(DYNC2H1):c.9764G>A (p.Ser3255Asn)	DYNC2H1 (S3255N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086502	NM_001377.3(DYNC2H1):c.9310G>A (p.Glu3104Lys)	DYNC2H1 (E3104K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086501	NM_001377.3(DYNC2H1):c.8822T>C (p.Val2941Ala)	DYNC2H1 (V2941A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086500	NM_001377.3(DYNC2H1):c.7745C>T (p.Ser2582Leu)	DYNC2H1 (S2582L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086498	NM_001377.3(DYNC2H1):c.7340A>T (p.Glu2447Val)	DYNC2H1 (E2447V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086497	NM_001377.3(DYNC2H1):c.7173T>G (p.Asn2391Lys)	DYNC2H1 (N2391K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086496	NM_001377.3(DYNC2H1):c.6926G>A (p.Arg2309Gln)	DYNC2H1 (R2309Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086495	NM_001377.3(DYNC2H1):c.686A>G (p.Asp229Gly)	DYNC2H1 (D229G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086494	NM_001377.3(DYNC2H1):c.6554A>G (p.His2185Arg)	DYNC2H1 (H2185R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086493	NM_001377.3(DYNC2H1):c.6170A>T (p.Asp2057Val)	DYNC2H1 (D2057V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086492	NM_001377.3(DYNC2H1):c.6140A>G (p.Asp2047Gly)	DYNC2H1 (D2047G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086491	NM_001377.3(DYNC2H1):c.5812G>C (p.Glu1938Gln)	DYNC2H1 (E1938Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086490	NM_001377.3(DYNC2H1):c.5738C>T (p.Thr1913Ile)	DYNC2H1 (T1913I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086489	NM_001377.3(DYNC2H1):c.5560G>C (p.Glu1854Gln)	DYNC2H1 (E1854Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086488	NM_001377.3(DYNC2H1):c.538A>T (p.Ile180Leu)	DYNC2H1 (I180L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086487	NM_001377.3(DYNC2H1):c.509T>G (p.Leu170Arg)	DYNC2H1 (L170R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086485	NM_001377.3(DYNC2H1):c.4872G>T (p.Trp1624Cys)	DYNC2H1 (W1624C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086484	NM_001377.3(DYNC2H1):c.4862C>T (p.Thr1621Ile)	DYNC2H1 (T1621I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086482	NM_001377.3(DYNC2H1):c.4417A>G (p.Ile1473Val)	DYNC2H1 (I1473V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086481	NM_001377.3(DYNC2H1):c.425A>T (p.Glu142Val)	DYNC2H1 (E142V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086479	NM_001377.3(DYNC2H1):c.3772G>T (p.Val1258Phe)	DYNC2H1 (V1258F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086478	NM_001377.3(DYNC2H1):c.3557A>G (p.Glu1186Gly)	DYNC2H1 (E1186G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086477	NM_001377.3(DYNC2H1):c.3249A>G (p.Ile1083Met)	DYNC2H1 (I1083M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086476	NM_001377.3(DYNC2H1):c.3070A>G (p.Ser1024Gly)	DYNC2H1 (S1024G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086475	NM_001377.3(DYNC2H1):c.2609C>T (p.Ala870Val)	DYNC2H1 (A870V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086473	NM_001377.3(DYNC2H1):c.2288T>C (p.Met763Thr)	DYNC2H1 (M763T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086472	NM_001377.3(DYNC2H1):c.2168A>T (p.Gln723Leu)	DYNC2H1 (Q723L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086471	NM_001377.3(DYNC2H1):c.2032C>T (p.Leu678Phe)	DYNC2H1 (L678F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086470	NM_001377.3(DYNC2H1):c.1783G>T (p.Val595Phe)	DYNC2H1 (V595F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086469	NM_001377.3(DYNC2H1):c.1575C>G (p.Asp525Glu)	DYNC2H1 (D525E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086468	NM_001377.3(DYNC2H1):c.12662T>C (p.Leu4221Ser)	DYNC2H1 (L4221S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086466	NM_001377.3(DYNC2H1):c.1067T>G (p.Ile356Arg)	DYNC2H1 (I356R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086465	NM_001377.3(DYNC2H1):c.10033G>C (p.Val3345Leu)	DYNC2H1 (V3345L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3068929	NM_001377.3(DYNC2H1):c.5151+3A>G	DYNC2H1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3068928	NM_001377.3(DYNC2H1):c.12039+5C>G	DYNC2H1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 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 3064232	NM_001377.3(DYNC2H1):c.10309G>A (p.Glu3437Lys)	DYNC2H1 (E3437K +1 more)	Single nucleotide variant (missense variant)	Ciliopathy	GUncertain significance
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 3055149	NM_001377.3(DYNC2H1):c.520G>A (p.Asp174Asn)	DYNC2H1 (D174N)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 3053651	NM_001377.3(DYNC2H1):c.11927G>A (p.Ser3976Asn)	DYNC2H1 (S3976N +1 more)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 3050906	NM_001377.3(DYNC2H1):c.11257-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	DYNC2H1-related disorder	GLikely pathogenic
Select item 3038797	NM_001377.3(DYNC2H1):c.9558G>T (p.Trp3186Cys)	DYNC2H1 (W3186C)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 3034399	NM_001377.3(DYNC2H1):c.1954-3T>C	DYNC2H1	Single nucleotide variant (intron variant)	DYNC2H1-related disorder	GLikely benign
Select item 3031458	NM_001377.3(DYNC2H1):c.9301C>T (p.His3101Tyr)	DYNC2H1 (H3101Y)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 3029316	NM_001377.3(DYNC2H1):c.4397T>C (p.Phe1466Ser)	DYNC2H1 (F1466S)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 3023895	NM_001377.3(DYNC2H1):c.11095+7G>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3023499	NM_001377.3(DYNC2H1):c.8312-9A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3023033	NM_001377.3(DYNC2H1):c.503-18C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3023023	NM_001377.3(DYNC2H1):c.4379-5T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022890	NM_001377.3(DYNC2H1):c.448C>T (p.Arg150Ter)	DYNC2H1 (R150*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3022875	NM_001377.3(DYNC2H1):c.12366+16C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022738	NM_001377.3(DYNC2H1):c.6893+17C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022664	NM_001377.3(DYNC2H1):c.4611+14C>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022528	NM_001377.3(DYNC2H1):c.11256+1G>T	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3022332	NM_001377.3(DYNC2H1):c.8311+7G>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022140	NM_001377.3(DYNC2H1):c.7840-20T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022126	NM_001377.3(DYNC2H1):c.6582G>A (p.Arg2194=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3021585	NM_001377.3(DYNC2H1):c.7806A>G (p.Leu2602=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3021542	NM_001377.3(DYNC2H1):c.993T>A (p.Leu331=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020826	NM_001377.3(DYNC2H1):c.6649C>T (p.Arg2217Ter)	DYNC2H1 (R2217*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3020722	NM_001377.3(DYNC2H1):c.9107+15T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020690	NM_001377.3(DYNC2H1):c.11808C>T (p.Asp3936=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020669	NM_001377.3(DYNC2H1):c.12765+18A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020665	NM_001377.3(DYNC2H1):c.3573+19T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020660	NM_001377.3(DYNC2H1):c.11367G>A (p.Leu3789=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020651	NM_001377.3(DYNC2H1):c.12157-18A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020646	NM_001377.3(DYNC2H1):c.375A>G (p.Glu125=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020613	NM_001377.3(DYNC2H1):c.12861A>G (p.Pro4287=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020231	NM_001377.3(DYNC2H1):c.2919T>C (p.Tyr973=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020205	NM_001377.3(DYNC2H1):c.11494-16T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020057	NM_001377.3(DYNC2H1):c.2203C>T (p.Gln735Ter)	DYNC2H1 (Q735*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3020026	NM_001377.3(DYNC2H1):c.2187A>G (p.Leu729=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019990	NM_001377.3(DYNC2H1):c.5469G>A (p.Glu1823=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019950	NM_001377.3(DYNC2H1):c.7741_7744del (p.Asn2581fs)	DYNC2H1 (N2581fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 3019889	NM_001377.3(DYNC2H1):c.2568A>G (p.Gln856=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019883	NM_001377.3(DYNC2H1):c.367-14C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019876	NM_001377.3(DYNC2H1):c.1248+10T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019871	NM_001377.3(DYNC2H1):c.6808C>T (p.Arg2270Ter)	DYNC2H1 (R2270*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3019848	NM_001377.3(DYNC2H1):c.3458+17A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019597	NM_001377.3(DYNC2H1):c.11340G>A (p.Lys3780=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019584	NM_001377.3(DYNC2H1):c.8311+15A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019502	NM_001377.3(DYNC2H1):c.11257-17T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019461	NM_001377.3(DYNC2H1):c.8268A>G (p.Ser2756=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019398	NM_001377.3(DYNC2H1):c.11096-8T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019310	NM_001377.3(DYNC2H1):c.1647C>T (p.Ser549=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019150	NM_001377.3(DYNC2H1):c.10252C>T (p.Gln3418Ter)	DYNC2H1 (Q3425* +1 more)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3019140	NM_001377.3(DYNC2H1):c.9819+18A>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019130	NM_001377.3(DYNC2H1):c.3574-19T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019129	NM_001377.3(DYNC2H1):c.3574-20del	DYNC2H1	Deletion (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018617	NM_001377.3(DYNC2H1):c.6510G>A (p.Gly2170=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018399	NM_001377.3(DYNC2H1):c.3093C>T (p.Asp1031=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018385	NM_001377.3(DYNC2H1):c.4701G>A (p.Leu1567=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018259	NM_001377.3(DYNC2H1):c.150C>T (p.Leu50=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign

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