"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128944	NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)	LOC126862060, DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +6 more	GBenign
Select item 434989	NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val)	DYNC1H1, LOC126862060 (I2993V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 210886	NM_001376.5(DYNC1H1):c.9020G>A (p.Arg3007Gln)	DYNC1H1, LOC126862060 (R3007Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 128926	NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=)	LOC126862060, DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GConflicting classifications of pathogenicity
Select item 210887	NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)	LOC126862060, DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 210888	NM_001376.5(DYNC1H1):c.9372T>C (p.Asp3124=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 434990	NM_001376.5(DYNC1H1):c.9403C>A (p.Gln3135Lys)	DYNC1H1, LOC126862060 (Q3135K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 434991	NM_001376.5(DYNC1H1):c.9418C>T (p.Arg3140Trp)	DYNC1H1, LOC126862060 (R3140W)	Single nucleotide variant (missense variant)	not specified	GLikely benign