ClinVar for OMIM (Select 127500) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444026	NM_015278.5(SASH1):c.1574C>T (p.Thr525Ile)	SASH1 (T286I +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 2430283	NM_015278.5(SASH1):c.1811C>A (p.Thr604Lys)	SASH1 (T365K +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 2430242	NM_015278.5(SASH1):c.1548T>A (p.Ser516Arg)	SASH1 (S277R +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
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 1048561	NM_015278.5(SASH1):c.1529G>A (p.Ser510Asn)	SASH1 (S271N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789886	NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln)	SASH1 (R703Q +5 more)	Single nucleotide variant (missense variant)	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma +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 624634	NM_015278.5(SASH1):c.1784T>C (p.Met595Thr)	SASH1 (M595T +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GUncertain significance
Select item 624633	NM_015278.5(SASH1):c.1651T>C (p.Tyr551His)	SASH1 (Y551H +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624632	NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala)	SASH1 (S507A +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624631	NM_015278.5(SASH1):c.1527_1530dup (p.Leu511fs)	SASH1 (L394fs +5 more)	Duplication (frameshift variant)	Dyschromatosis universalis hereditaria 1	GPathogenic
Select item 624630	NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg)	SASH1 (S513R +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GUncertain significance
Select item 624629	NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn)	SASH1 (S519N +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624627	NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys)	SASH1 (E509K +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624626	NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro)	SASH1 (L515P +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624625	NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp)	SASH1 (Y551D +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic