ClinVar for MedGen (Select 382137) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336588	NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)	SLC45A2 (A486T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GPathogenic/Likely pathogenic
Select item 1476655	NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)	SLC45A2 (S92G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1432027	NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe)	SLC45A2 (L524F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1404786	NM_016180.5(SLC45A2):c.301C>T (p.Arg101Cys)	SLC45A2 (R101C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR +2 more	GUncertain significance
Select item 1366403	NM_016180.5(SLC45A2):c.793A>T (p.Met265Leu)	SLC45A2 (M265L)	Single nucleotide variant (missense variant +1 more)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR +2 more	GUncertain significance
Select item 904628	NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)	SLC45A2 (P239L +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +2 more	GUncertain significance
Select item 828165	NM_016180.5(SLC45A2):c.870del (p.Asn290fs)	SLC45A2 (N290fs)	Deletion (frameshift variant +1 more)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR	GPathogenic
Select item 489020	NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter)	SLC45A2 (P211T +1 more)	Single nucleotide variant (nonsense +1 more)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR +2 more	GPathogenic
Select item 436756	NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4 +3 more	GConflicting classifications of pathogenicity
Select item 424799	NM_016180.4(SLC45A2):c.[1454T>C];[264delC]			Oculocutaneous albinism type 4	GLikely pathogenic
Select item 242518	NM_016180.5(SLC45A2):c.264del (p.Gly89fs)	SLC45A2 (G89fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 212205	NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)	SLC45A2 (P442L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197829	NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe)	SLC45A2 (L374F)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 4 +3 more	GBenign
Select item 197309	NM_016180.5(SLC45A2):c.987A>G (p.Thr329=)	SLC45A2 (S221G)	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 4505	NM_016180.5(SLC45A2):c.1122= (p.Leu374=)	SLC45A2	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 4504	NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys)	SLC45A2 (E272K)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 4 +1 more	GBenign/Likely benign
Select item 4500	NM_016180.5(SLC45A2):c.986del (p.Thr329fs)	SLC45A2 (D220fs +1 more)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR +1 more	GPathogenic