Related gene-specific medical variations for Gene (Select 2647) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261073	NM_001487.4(BLOC1S1):c.401G>A (p.Arg134His)	BLOC1S1, BLOC1S1-RDH5 (R134H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261072	NM_001487.4(BLOC1S1):c.4G>C (p.Ala2Pro)	BLOC1S1, BLOC1S1-RDH5 +1 more (A2P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261071	NM_001487.4(BLOC1S1):c.37C>T (p.Arg13Trp)	BLOC1S1, BLOC1S1-RDH5 +1 more (R13W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261070	NM_001487.4(BLOC1S1):c.17G>C (p.Arg6Pro)	BLOC1S1, BLOC1S1-RDH5 +1 more (R6P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134134	NM_001487.4(BLOC1S1):c.380G>A (p.Arg127Gln)	BLOC1S1, BLOC1S1-RDH5 (R127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134132	NM_001487.4(BLOC1S1):c.26G>A (p.Arg9His)	BLOC1S1, BLOC1S1-RDH5 +1 more (R9H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134131	NM_001487.4(BLOC1S1):c.20G>A (p.Gly7Asp)	BLOC1S1, BLOC1S1-RDH5 +1 more (G7D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2613519	NM_001487.4(BLOC1S1):c.442C>G (p.Leu148Val)	BLOC1S1, BLOC1S1-RDH5 (L148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517381	NM_001487.4(BLOC1S1):c.72G>T (p.Gln24His)	BLOC1S1, BLOC1S1-RDH5 +2 more (Q24H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2480511	NM_001487.4(BLOC1S1):c.152G>A (p.Arg51Lys)	BLOC1S1, BLOC1S1-RDH5 (R51K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2405108	NM_001487.4(BLOC1S1):c.343G>T (p.Ala115Ser)	BLOC1S1, BLOC1S1-RDH5 (A115S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2290421	NM_001487.4(BLOC1S1):c.164C>T (p.Ala55Val)	BLOC1S1, BLOC1S1-RDH5 (A55V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2233511	NM_001487.4(BLOC1S1):c.74C>T (p.Pro25Leu)	BLOC1S1, BLOC1S1-RDH5 +2 more (P25L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance