Related gene-specific medical variations for Gene (Select 6991) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274214	NM_174910.3(DYNLT2):c.13G>A (p.Gly5Ser)	DYNLT2, ERMARD (G5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274212	NM_174910.3(DYNLT2):c.115G>A (p.Glu39Lys)	DYNLT2, ERMARD (E39K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539444	NM_174910.3(DYNLT2):c.67G>C (p.Ala23Pro)	DYNLT2, ERMARD (A23P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1316319	NC_000006.12:g.169751469T>C	DYNLT2, ERMARD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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