Related gene-specific medical variations for Gene (Select 1209) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350762	NM_001294.4(CLPTM1):c.53G>A (p.Gly18Glu)	CLPTM1, LOC130064657 (G18E)	Single nucleotide variant (missense variant +1 more)	CLPTM1-related disorder	GUncertain significance
Select item 3267847	NM_001294.4(CLPTM1):c.40G>A (p.Val14Met)	CLPTM1, LOC130064657 (V14M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048348	NM_001294.4(CLPTM1):c.6G>A (p.Ala2=)	CLPTM1, LOC130064657	Single nucleotide variant (synonymous variant +1 more)	CLPTM1-related disorder	GLikely benign
Select item 2363433	NM_001294.4(CLPTM1):c.5C>T (p.Ala2Val)	CLPTM1, LOC130064657 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355238	NM_001294.4(CLPTM1):c.53G>C (p.Gly18Ala)	CLPTM1, LOC130064657 (G18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259284	NM_001294.4(CLPTM1):c.68G>A (p.Gly23Asp)	CLPTM1, LOC130064657 (G23D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207672	NM_001294.4(CLPTM1):c.59G>A (p.Gly20Asp)	CLPTM1, LOC130064657 (G20D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 744468	NM_001294.4(CLPTM1):c.21G>A (p.Ala7=)	CLPTM1, LOC130064657	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

ClinVar