"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128939	NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +6 more	GBenign
Select item 374099	NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)	DYNC1H1 (R251C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1284781	NM_001376.5(DYNC1H1):c.2107G>A (p.Ala703Thr)	DYNC1H1 (A703T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137182	NM_001376.5(DYNC1H1):c.3015+18C>T	DYNC1H1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 128935	NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +6 more	GBenign
Select item 128936	NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +5 more	GBenign
Select item 210871	NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1174740	NM_001376.5(DYNC1H1):c.6619-11G>A	DYNC1H1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 539784	NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn)	DYNC1H1 (D2255N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 128941	NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +5 more	GBenign
Select item 128942	NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +5 more	GBenign
Select item 128944	NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +6 more	GBenign
Select item 497397	NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys)	DYNC1H1, LOC126862060 (E3048K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GConflicting classifications of pathogenicity
Select item 258076	NM_001376.5(DYNC1H1):c.9469-20A>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 128927	NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 128928	NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)	DYNC1H1 (H4029Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +5 more	GBenign
Select item 1284658	NM_001376.5(DYNC1H1):c.12811C>T (p.Arg4271Cys)	DYNC1H1 (R4271C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 128929	NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign
Select item 128931	NM_001376.5(DYNC1H1):c.13372+4C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GBenign
Select item 128932	NM_001376.5(DYNC1H1):c.13372+9G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign

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Items: 20