Related gene-specific medical variations for Gene (Select 56475) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315277	NM_019845.3(RPRM):c.34G>A (p.Ala12Thr)	GALNT13, RPRM (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156180	NM_019845.3(RPRM):c.56G>A (p.Ser19Asn)	GALNT13, RPRM (S19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386674	NM_019845.3(RPRM):c.77C>T (p.Ala26Val)	GALNT13, RPRM (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231623	NM_019845.3(RPRM):c.150C>G (p.Ser50Arg)	GALNT13, RPRM (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980599	GRCh37/hg19 2q23.3(chr2:154164995-154511449)x1	RPRM	Copy number loss	not provided	GUncertain significance
Select item 814327	GRCh37/hg19 2q23.3(chr2:153999219-154487261)x1	RPRM	Copy number loss	not provided	GUncertain significance

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