Related gene-specific medical variations for Gene (Select 221178) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321843	NM_001166271.3(SPATA13):c.1243A>G (p.Lys415Glu)	LOC130009390, SPATA13 (K415E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168186	NM_001166271.3(SPATA13):c.2137C>T (p.Arg713Cys)	LOC106783494, SPATA13 (R88C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593116	NM_001166271.3(SPATA13):c.2141G>A (p.Arg714Gln)	LOC106783494, SPATA13 (R714Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486707	NM_001166271.3(SPATA13):c.2143C>T (p.Arg715Trp)	LOC106783494, SPATA13 (R715W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384763	NM_001166271.3(SPATA13):c.2138G>A (p.Arg713His)	LOC106783494, SPATA13 (R88H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230556	NM_001166271.3(SPATA13):c.2129G>A (p.Arg710His)	LOC106783494, SPATA13 (R772H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527756	GRCh37/hg19 13q12.12(chr13:24781425-24823602)x1	SPATA13	Copy number loss	not specified	GUncertain significance

ClinVar