ClinVar for Gene (Select 1778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381561	NM_001376.5(DYNC1H1):c.5036G>C (p.Arg1679Pro)	DYNC1H1 (R1679P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381507	NM_001376.5(DYNC1H1):c.5737A>C (p.Thr1913Pro)	DYNC1H1 (T1913P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381497	NM_001376.5(DYNC1H1):c.7876A>G (p.Thr2626Ala)	DYNC1H1 (T2626A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381227	NM_001376.5(DYNC1H1):c.1471G>A (p.Val491Ile)	DYNC1H1 (V491I)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 3380236	NM_001376.5(DYNC1H1):c.8260G>A (p.Ala2754Thr)	DYNC1H1 (A2754T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378236	NM_001376.5(DYNC1H1):c.2752G>A (p.Gly918Ser)	DYNC1H1 (G918S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377866	NM_001376.5(DYNC1H1):c.10116G>A (p.Met3372Ile)	DYNC1H1 (M3372I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376017	NM_001376.5(DYNC1H1):c.5256G>T (p.Leu1752Phe)	DYNC1H1 (L1752F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375237	NM_001376.5(DYNC1H1):c.1497C>T (p.Val499=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3374923	NM_001376.5(DYNC1H1):c.11799G>A (p.Glu3933=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3374825	NM_001376.5(DYNC1H1):c.8317A>G (p.Met2773Val)	DYNC1H1 (M2773V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3373646	NM_001376.5(DYNC1H1):c.3943A>G (p.Ser1315Gly)	DYNC1H1 (S1315G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373322	NM_001376.5(DYNC1H1):c.13883C>T (p.Thr4628Ile)	DYNC1H1 (T4628I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373196	NM_001376.5(DYNC1H1):c.7473+5G>C	DYNC1H1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3372917	NM_001376.5(DYNC1H1):c.5264A>G (p.Gln1755Arg)	DYNC1H1 (Q1755R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372829	NM_001376.5(DYNC1H1):c.9576C>G (p.Ser3192Arg)	DYNC1H1 (S3192R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372794	NM_001376.5(DYNC1H1):c.8462T>G (p.Leu2821Arg)	DYNC1H1 (L2821R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3372457	NM_001376.5(DYNC1H1):c.7662G>T (p.Gln2554His)	DYNC1H1 (Q2554H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371970	NM_001376.5(DYNC1H1):c.8452G>A (p.Val2818Ile)	DYNC1H1 (V2818I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371476	NM_001376.5(DYNC1H1):c.215C>T (p.Pro72Leu)	DYNC1H1 (P72L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371373	NM_001376.5(DYNC1H1):c.12118C>T (p.Pro4040Ser)	DYNC1H1 (P4040S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371303	NM_001376.5(DYNC1H1):c.2890A>T (p.Ile964Leu)	DYNC1H1, LOC130056502 (I964L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371158	NM_001376.5(DYNC1H1):c.11360C>T (p.Thr3787Met)	DYNC1H1 (T3787M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370999	NM_001376.5(DYNC1H1):c.2325C>A (p.Tyr775Ter)	DYNC1H1 (Y775*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3370642	NM_001376.5(DYNC1H1):c.9672A>G (p.Ile3224Met)	DYNC1H1 (I3224M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370098	NM_001376.5(DYNC1H1):c.5542C>G (p.Pro1848Ala)	DYNC1H1 (P1848A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369281	NM_001376.5(DYNC1H1):c.10639A>G (p.Ile3547Val)	DYNC1H1 (I3547V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368876	NM_001376.5(DYNC1H1):c.2005C>T (p.Leu669Phe)	DYNC1H1 (L669F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368218	NM_001376.5(DYNC1H1):c.12547C>A (p.Leu4183Met)	DYNC1H1 (L4183M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368130	NM_001376.5(DYNC1H1):c.452C>A (p.Ser151Tyr)	DYNC1H1 (S151Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367934	NM_001376.5(DYNC1H1):c.12595del (p.Leu4199fs)	DYNC1H1 (L4199fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3367572	NM_001376.5(DYNC1H1):c.6553G>A (p.Val2185Met)	DYNC1H1 (V2185M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366944	NM_001376.5(DYNC1H1):c.3281A>G (p.Asp1094Gly)	DYNC1H1 (D1094G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 3366649	NM_001376.5(DYNC1H1):c.12022T>C (p.Phe4008Leu)	DYNC1H1 (F4008L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366504	NM_001376.5(DYNC1H1):c.13089_13100del (p.Lys4363_Asp4367delinsAsn)	DYNC1H1	Deletion (inframe_indel)	not specified	GUncertain significance
Select item 3366107	NM_001376.5(DYNC1H1):c.9698A>G (p.Asn3233Ser)	DYNC1H1 (N3233S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366012	NM_001376.5(DYNC1H1):c.12275+1G>A	DYNC1H1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3365795	NM_001376.5(DYNC1H1):c.10607T>C (p.Leu3536Pro)	DYNC1H1 (L3536P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365692	NM_001376.5(DYNC1H1):c.9127A>G (p.Met3043Val)	DYNC1H1, LOC126862060 (M3043V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365534	NM_001376.5(DYNC1H1):c.3053T>A (p.Phe1018Tyr)	DYNC1H1 (F1018Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365481	NM_001376.5(DYNC1H1):c.692A>T (p.Asp231Val)	DYNC1H1 (D231V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365452	NM_001376.5(DYNC1H1):c.209C>G (p.Ser70Trp)	DYNC1H1 (S70W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365421	NM_001376.5(DYNC1H1):c.10378G>T (p.Ala3460Ser)	DYNC1H1 (A3460S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365202	NM_001376.5(DYNC1H1):c.4138T>A (p.Tyr1380Asn)	DYNC1H1 (Y1380N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365077	NM_001376.5(DYNC1H1):c.92_124dup (p.Leu41_Leu42insGlnLysHisLeuArgLysLeuValProLeuLeu)	DYNC1H1	Duplication	not provided	GUncertain significance
Select item 3364981	NM_001376.5(DYNC1H1):c.1520T>C (p.Val507Ala)	DYNC1H1 (V507A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364357	NM_001376.5(DYNC1H1):c.9978G>T (p.Leu3326=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3364146	NM_001376.5(DYNC1H1):c.2744T>C (p.Leu915Pro)	DYNC1H1 (L915P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363975	NM_001376.5(DYNC1H1):c.5023G>A (p.Gly1675Ser)	DYNC1H1 (G1675S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362102	NM_001376.5(DYNC1H1):c.7222G>A (p.Ala2408Thr)	DYNC1H1 (A2408T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362088	NM_001376.5(DYNC1H1):c.1851G>T (p.Glu617Asp)	DYNC1H1 (E617D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361938	NM_001376.5(DYNC1H1):c.11276G>A (p.Arg3759His)	DYNC1H1 (R3759H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3361846	NM_001376.5(DYNC1H1):c.7534G>T (p.Ala2512Ser)	DYNC1H1 (A2512S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361831	NM_001376.5(DYNC1H1):c.5501A>C (p.Lys1834Thr)	DYNC1H1 (K1834T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361562	NM_001376.5(DYNC1H1):c.1420G>A (p.Glu474Lys)	DYNC1H1 (E474K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361274	NM_001376.5(DYNC1H1):c.10713C>G (p.Asp3571Glu)	DYNC1H1 (D3571E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360950	NM_001376.5(DYNC1H1):c.9109del (p.Ala3037fs)	DYNC1H1 (A3037fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3360809	NM_001376.5(DYNC1H1):c.4045C>T (p.Gln1349Ter)	DYNC1H1 (Q1349*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3360692	NM_001376.5(DYNC1H1):c.7936A>G (p.Asn2646Asp)	DYNC1H1 (N2646D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360551	NM_001376.5(DYNC1H1):c.9542A>G (p.Asn3181Ser)	DYNC1H1 (N3181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360270	NM_001376.5(DYNC1H1):c.8177+3A>C	DYNC1H1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359947	NM_001376.5(DYNC1H1):c.3265G>A (p.Ala1089Thr)	DYNC1H1 (A1089T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359946	NM_001376.5(DYNC1H1):c.145C>T (p.Pro49Ser)	DYNC1H1 (P49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359919	NM_001376.5(DYNC1H1):c.4580delinsCC (p.Leu1527fs)	DYNC1H1 (L1527fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3359732	NM_001376.5(DYNC1H1):c.4962C>A (p.Phe1654Leu)	DYNC1H1 (F1654L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358996	NM_001376.5(DYNC1H1):c.10975dup (p.Arg3659fs)	DYNC1H1 (R3659fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 13	GPathogenic
Select item 3353147	NM_001376.5(DYNC1H1):c.2686T>G (p.Leu896Val)	DYNC1H1 (L896V)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 3349885	NM_001376.5(DYNC1H1):c.7052C>A (p.Ala2351Glu)	DYNC1H1 (A2351E)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GLikely pathogenic
Select item 3348556	NM_001376.5(DYNC1H1):c.8363C>T (p.Thr2788Ile)	DYNC1H1 (T2788I)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 3347567	NM_001376.5(DYNC1H1):c.5895G>A (p.Glu1965=)	DYNC1H1	Single nucleotide variant (synonymous variant)	DYNC1H1-related disorder	GLikely benign
Select item 3347466	NM_001376.5(DYNC1H1):c.6824G>A (p.Trp2275Ter)	DYNC1H1 (W2275*)	Single nucleotide variant (nonsense)	DYNC1H1-related disorder	GLikely pathogenic
Select item 3347094	NM_001376.5(DYNC1H1):c.4075-4A>G	DYNC1H1	Single nucleotide variant (intron variant)	DYNC1H1-related disorder	GLikely benign
Select item 3346306	NM_001376.5(DYNC1H1):c.7573C>T (p.Pro2525Ser)	DYNC1H1 (P2525S)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 3346203	NM_001376.5(DYNC1H1):c.10258G>A (p.Glu3420Lys)	DYNC1H1 (E3420K)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 3346152	NM_001376.5(DYNC1H1):c.11998C>T (p.Arg4000Cys)	DYNC1H1 (R4000C)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 3344914	NM_001376.5(DYNC1H1):c.5467A>G (p.Arg1823Gly)	DYNC1H1 (R1823G)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 3344567	NM_001376.5(DYNC1H1):c.4416T>G (p.Thr1472=)	DYNC1H1	Single nucleotide variant (synonymous variant)	DYNC1H1-related disorder	GLikely benign
Select item 3343768	NM_001376.5(DYNC1H1):c.11811_11816del (p.Arg3937_Leu3938del)	DYNC1H1	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 3343447	NM_001376.5(DYNC1H1):c.3622del (p.Trp1208fs)	DYNC1H1 (W1208fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3343027	NM_001376.5(DYNC1H1):c.6925C>T (p.Pro2309Ser)	DYNC1H1 (P2309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342696	NM_001376.5(DYNC1H1):c.4520T>C (p.Met1507Thr)	DYNC1H1 (M1507T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3342414	NM_001376.5(DYNC1H1):c.6518G>A (p.Gly2173Asp)	DYNC1H1 (G2173D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339450	NM_001376.5(DYNC1H1):c.11597T>A (p.Val3866Glu)	DYNC1H1 (V3866E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339024	NM_001376.5(DYNC1H1):c.9643-8C>T	DYNC1H1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338922	NM_001376.5(DYNC1H1):c.8101G>A (p.Val2701Met)	DYNC1H1 (V2701M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337062	NM_001376.5(DYNC1H1):c.10415T>G (p.Val3472Gly)	DYNC1H1 (V3472G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337061	NM_001376.5(DYNC1H1):c.7676C>T (p.Thr2559Met)	DYNC1H1 (T2559M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337060	NM_001376.5(DYNC1H1):c.4799C>G (p.Ser1600Cys)	DYNC1H1 (S1600C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337059	NM_001376.5(DYNC1H1):c.3687C>G (p.Asp1229Glu)	DYNC1H1 (D1229E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3274150	NM_001376.5(DYNC1H1):c.10961G>A (p.Arg3654Gln)	DYNC1H1 (R3654Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274149	NM_001376.5(DYNC1H1):c.9588G>T (p.Glu3196Asp)	DYNC1H1 (E3196D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274148	NM_001376.5(DYNC1H1):c.12529G>A (p.Ala4177Thr)	DYNC1H1 (A4177T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274147	NM_001376.5(DYNC1H1):c.5719C>T (p.Pro1907Ser)	DYNC1H1 (P1907S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274146	NM_001376.5(DYNC1H1):c.2351G>A (p.Ser784Asn)	DYNC1H1 (S784N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274144	NM_001376.5(DYNC1H1):c.3677G>A (p.Arg1226Gln)	DYNC1H1 (R1226Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274143	NM_001376.5(DYNC1H1):c.2606A>G (p.Tyr869Cys)	DYNC1H1 (Y869C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274142	NM_001376.5(DYNC1H1):c.10752T>A (p.Asn3584Lys)	DYNC1H1 (N3584K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274141	NM_001376.5(DYNC1H1):c.9137C>T (p.Ser3046Leu)	DYNC1H1, LOC126862060 (S3046L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274140	NM_001376.5(DYNC1H1):c.6977C>A (p.Thr2326Asn)	DYNC1H1 (T2326N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274138	NM_001376.5(DYNC1H1):c.2773G>C (p.Val925Leu)	DYNC1H1 (V925L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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