"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MAK"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194362	NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)	MAK (I572T +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis Pigmentosa, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 444672	NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs)	MAK (N542fs +1 more)	Deletion (frameshift variant +2 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1676008	NM_001242957.3(MAK):c.1468G>A (p.Val490Met)	MAK (V456M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 809877	NM_001242957.3(MAK):c.1366_1367del (p.Lys456fs)	MAK (K456fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 870824	NM_001242957.3(MAK):c.1195_1196del (p.Thr399fs)	MAK (T399fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3067588	NM_001242957.3(MAK):c.1052A>T (p.Gln351Leu)	MAK (Q317L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 199064	NM_001242957.3(MAK):c.975G>A (p.Pro325=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity

ClinVar