SCMH1[gene] and "single gene"[properties] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2212747	NM_001394311.1(SCMH1):c.1483G>A (p.Asp495Asn)	SCMH1 (D394N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158465	NM_001394311.1(SCMH1):c.1462A>G (p.Ile488Val)	SCMH1 (I387V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469866	NM_001394311.1(SCMH1):c.1444C>T (p.His482Tyr)	SCMH1 (H411Y +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544649	NM_001394311.1(SCMH1):c.1413T>A (p.Asn471Lys)	SCMH1 (N351K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408918	NM_001394311.1(SCMH1):c.1366G>A (p.Val456Ile)	SCMH1 (V336I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313087	NM_001394311.1(SCMH1):c.1276A>C (p.Lys426Gln)	SCMH1 (K258Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158464	NM_001394311.1(SCMH1):c.1261G>A (p.Val421Ile)	SCMH1 (V320I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158463	NM_001394311.1(SCMH1):c.1196G>A (p.Arg399His)	SCMH1 (R328H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315179	NM_001394311.1(SCMH1):c.1012G>A (p.Ala338Thr)	SCMH1 (A328T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3158476	NM_001394311.1(SCMH1):c.1003C>G (p.Pro335Ala)	SCMH1 (P157A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522237	NM_001394311.1(SCMH1):c.947C>G (p.Pro316Arg)	SCMH1 (P148R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528423	NM_001394311.1(SCMH1):c.862G>A (p.Gly288Arg)	SCMH1 (G110R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395987	NM_001394311.1(SCMH1):c.748G>T (p.Val250Leu)	SCMH1 (V179L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158475	NM_001394311.1(SCMH1):c.746T>C (p.Val249Ala)	SCMH1 (V148A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158474	NM_001394311.1(SCMH1):c.668G>A (p.Arg223His)	SCMH1 (R122H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158473	NM_001394311.1(SCMH1):c.474G>T (p.Glu158Asp)	SCMH1 (E101D +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2601396	NM_001394311.1(SCMH1):c.458C>A (p.Thr153Lys)	SCMH1 (T52K +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2352266	NM_001394311.1(SCMH1):c.428C>T (p.Ala143Val)	SCMH1 (A42V +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2252656	NM_001394311.1(SCMH1):c.373A>G (p.Asn125Asp)	SCMH1 (N54D +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2381925	NM_001394311.1(SCMH1):c.107-948G>C	SCMH1 (D15H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance

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Items: 20