Related gene-specific medical variations for Gene (Select 7014) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176160	NM_005652.5(TERF2):c.212G>A (p.Gly71Glu)	LOC130059309, TERF2 (G71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176159	NM_005652.5(TERF2):c.179G>T (p.Arg60Leu)	LOC130059309, TERF2 (R60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176158	NM_005652.5(TERF2):c.263C>T (p.Ala88Val)	LOC130059309, TERF2 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058218	NM_005652.5(TERF2):c.276G>A (p.Glu92=)	LOC130059309, TERF2	Single nucleotide variant (synonymous variant)	TERF2-related disorder	GLikely benign
Select item 3038892	NM_005652.5(TERF2):c.240G>C (p.Pro80=)	LOC130059309, TERF2	Single nucleotide variant (synonymous variant)	TERF2-related disorder	GLikely benign
Select item 2646673	NM_005652.5(TERF2):c.204C>T (p.Ala68=)	LOC130059309, TERF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534673	NM_005652.5(TERF2):c.347G>A (p.Gly116Glu)	LOC130059309, TERF2 (G116E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216307	NM_005652.5(TERF2):c.203C>T (p.Ala68Val)	LOC130059309, TERF2 (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar