"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800542	NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp)	DYNC1H1 (R292W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 30029	NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)	DYNC1H1 (H306R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GPathogenic/Likely pathogenic
Select item 2664972	NM_001376.5(DYNC1H1):c.1352G>A (p.Arg451His)	DYNC1H1 (R451H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1679155	NM_001376.5(DYNC1H1):c.2476T>C (p.Ser826Pro)	DYNC1H1 (S826P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 977612	NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys)	DYNC1H1 (Q882K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GLikely pathogenic
Select item 976360	NM_001376.5(DYNC1H1):c.3053T>C (p.Phe1018Ser)	DYNC1H1 (F1018S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GConflicting classifications of pathogenicity
Select item 873447	NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)	DYNC1H1 (Y1057C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GConflicting classifications of pathogenicity
Select item 983115	NM_001376.5(DYNC1H1):c.3563A>G (p.Glu1188Gly)	DYNC1H1 (E1188G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely benign
Select item 976187	NM_001376.5(DYNC1H1):c.3680G>A (p.Arg1227Gln)	DYNC1H1 (R1227Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +3 more	GUncertain significance
Select item 975897	NM_001376.5(DYNC1H1):c.4781T>G (p.Ile1594Ser)	DYNC1H1 (I1594S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2430243	NM_001376.5(DYNC1H1):c.6071G>A (p.Gly2024Asp)	DYNC1H1 (G2024D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 982939	NM_001376.5(DYNC1H1):c.6136C>T (p.Arg2046Trp)	DYNC1H1 (R2046W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GConflicting classifications of pathogenicity
Select item 976422	NM_001376.5(DYNC1H1):c.6467T>G (p.Leu2156Arg)	DYNC1H1 (L2156R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 983088	NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu)	DYNC1H1 (P2739L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GUncertain significance
Select item 976130	NM_001376.5(DYNC1H1):c.8945G>A (p.Arg2982His)	DYNC1H1, LOC126862060 (R2982H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely benign
Select item 694850	NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly)	DYNC1H1, LOC126862060 (S3111G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 55855	NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)	DYNC1H1 (R3344Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GPathogenic
Select item 976108	NM_001376.5(DYNC1H1):c.10175T>C (p.Met3392Thr)	DYNC1H1 (M3392T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2664994	NM_001376.5(DYNC1H1):c.10237C>T (p.Arg3413Cys)	DYNC1H1 (R3413C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1804111	NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)	DYNC1H1 (R3413H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GUncertain significance
Select item 982588	NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile)	DYNC1H1 (T3806I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1285465	NM_001376.5(DYNC1H1):c.11690+5G>A	DYNC1H1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 13 +1 more	GUncertain significance
Select item 976128	NM_001376.5(DYNC1H1):c.11702A>G (p.Tyr3901Cys)	DYNC1H1 (Y3901C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1697295	NM_001376.5:c.(4883+1_4884-1)_(8177+1_8178-1)del	DYNC1H1	Deletion	Intellectual disability, autosomal dominant 13	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24