Related gene-specific medical variations for Gene (Select 100130933) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320981	NM_001162997.2(SMIM6):c.38A>C (p.Asp13Ala)	RECQL5, SMIM6 (D13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558633	NM_001162997.2(ERLN):c.172G>A (p.Ala58Thr)	ERLN, RECQL5 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382826	NM_001162997.2(ERLN):c.26C>T (p.Thr9Ile)	ERLN, RECQL5 (T9I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358202	NM_001162997.2(ERLN):c.101C>T (p.Ala34Val)	ERLN, RECQL5 (A34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234432	NM_001162997.2(ERLN):c.29T>C (p.Ile10Thr)	ERLN, RECQL5 (I10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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