Related gene-specific medical variations for Gene (Select 124045) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2523316	NM_153025.3(SPATA33):c.4G>T (p.Val2Leu)	LOC130059828, SPATA33 (V2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361853	NM_153025.3(SPATA33):c.8C>T (p.Thr3Met)	LOC130059828, SPATA33 (T3M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217442	NM_153025.3(SPATA33):c.32T>C (p.Phe11Ser)	LOC130059828, SPATA33 (F11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210897	NM_153025.3(SPATA33):c.26G>C (p.Arg9Thr)	LOC130059828, SPATA33 (R9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235871	NM_001271907.2(SPATA33):c.-7C>G	CHMP1A, LOC130059828 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1183917	NM_001271907.2(SPATA33):c.-52C>T	CHMP1A, SPATA33 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

ClinVar