ClinVar for MedGen (Select 1678330) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290003	NM_015278.5(SASH1):c.45CGAGCC[3] (p.12EP[7])	SASH1	Microsatellite (5 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 1289486	NM_015278.5(SASH1):c.337-38G>C	SASH1	Single nucleotide variant (intron variant)	Dyschromatosis universalis hereditaria 1 +2 more	GBenign
Select item 1257635	NM_015278.5(SASH1):c.2651A>G (p.Gln884Arg)	SASH1 (Q645R +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 789886	NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln)	SASH1 (R703Q +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1 +3 more	GBenign/Likely benign
Select item 783757	NM_015278.5(SASH1):c.3266G>A (p.Arg1089Gln)	SASH1 (R1044Q +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 156162	NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys)	SASH1 (E617K +5 more)	Single nucleotide variant (missense variant)	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma +5 more	GPathogenic/Likely pathogenic

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