Related gene-specific medical variations for Gene (Select 6836) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172227	NM_033161.4(SURF4):c.8A>G (p.Gln3Arg)	LOC130002903, SURF4 (Q3R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171450	NM_153710.5(STKLD1):c.70C>T (p.Pro24Ser)	LOC130002904, STKLD1 +1 more (P24S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171449	NM_153710.5(STKLD1):c.62C>T (p.Pro21Leu)	LOC130002904, STKLD1 +1 more (P21L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171444	NM_153710.5(STKLD1):c.35C>T (p.Thr12Met)	LOC130002904, STKLD1 +1 more (T12M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2497717	NM_033161.4(SURF4):c.433G>A (p.Val145Ile)	SURF4 (V102I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 666282	NM_153710.5(STKLD1):c.84C>A (p.Tyr28Ter)	LOC130002904, STKLD1 +1 more (Y28*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance

ClinVar