"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3249592	NM_173467.5(MCAT):c.937C>G (p.His313Asp)	MCAT (H313D)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3249179	NM_173467.5(MCAT):c.907G>A (p.Ala303Thr)	MCAT (A303T)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 2569175	NM_173467.5(MCAT):c.845C>T (p.Thr282Met)	MCAT (T282M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3249434	NM_173467.5(MCAT):c.832G>A (p.Val278Met)	MCAT (V278M)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3249561	NM_173467.5(MCAT):c.458G>A (p.Ser153Asn)	MCAT (S153N)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1695049	NM_173467.5(MCAT):c.235C>G (p.Arg79Gly)	MCAT (R79G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3249241	NM_173467.5(MCAT):c.46G>T (p.Ala16Ser)	LOC130067629, MCAT (A16S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance

ClinVar