"Ambry Genetics"[submitter] AND "SMIM5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2410009	NM_001162995.3(SMIM5):c.32G>A (p.Arg11His)	RECQL5, SMIM5 (R11H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2297873	NM_001162995.3(SMIM5):c.96C>G (p.Ile32Met)	RECQL5, SMIM5 (I32M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325343	NM_001162995.3(SMIM5):c.106T>C (p.Ser36Pro)	RECQL5, SMIM5 (S36P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589392	NM_001162995.3(SMIM5):c.193C>T (p.Arg65Trp)	RECQL5, SMIM5 (R65W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326297	NM_001162995.3(SMIM5):c.202A>G (p.Arg68Gly)	RECQL5, SMIM5 (R68G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273687	NM_001162995.3(SMIM5):c.221C>T (p.Pro74Leu)	RECQL5, SMIM5 (P74L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar