Related gene-specific medical variations for Gene (Select 143241) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274131	NM_001269053.2(DYDC1):c.29T>C (p.Leu10Pro)	DYDC1, DYDC2 (L10P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086417	NM_001269053.2(DYDC1):c.79G>A (p.Val27Met)	DYDC1, DYDC2 (V27M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540907	NM_001269053.2(DYDC1):c.74G>A (p.Arg25His)	DYDC1, DYDC2 (R25H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361129	NM_001269053.2(DYDC1):c.175C>T (p.Arg59Cys)	DYDC1, DYDC2 (R59C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293226	NM_001269053.2(DYDC1):c.166A>G (p.Lys56Glu)	DYDC1, DYDC2 (K56E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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