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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248884	NM_001017979.3(RAB28):c.594T>G (p.Ile198Met)	RAB28 (I198M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3249211	NM_001017979.3(RAB28):c.574-1223C>T	RAB28	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3250323	NC_000004.12:g.(?_13369875)_(13381595_13460698)del	RAB28	Deletion	Retinal dystrophy	GPathogenic
Select item 3249135	NM_004249.4(RAB28):c.580G>A (p.Val194Ile)	RAB28 (V194I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 60754	NM_001017979.3(RAB28):c.565C>T (p.Gln189Ter)	RAB28 (Q189*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 2006075	NM_001017979.3(RAB28):c.395A>T (p.Asp132Val)	RAB28 (D132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389325	NM_001017979.3(RAB28):c.245A>G (p.Tyr82Cys)	RAB28 (Y82C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3249792	NM_001017979.3(RAB28):c.71G>C (p.Gly24Ala)	LOC111828517, RAB28 (G24A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 955113	NM_001017979.3(RAB28):c.22A>T (p.Ser8Cys)	LOC111828517, RAB28 (S8C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance