ClinVar for Gene (Select 22955) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3158470	NM_001394311.1(SCMH1):c.1991G>A (p.Arg664Gln)	SCMH1, SLFNL1-AS1 (R654Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158469	NM_001394311.1(SCMH1):c.1769G>T (p.Arg590Leu)	SCMH1, SLFNL1-AS1 (R412L +12 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158468	NM_001394311.1(SCMH1):c.1764G>T (p.Glu588Asp)	SCMH1, SLFNL1-AS1 (E398D +12 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158467	NM_001394311.1(SCMH1):c.1643G>A (p.Ser548Asn)	SCMH1, SLFNL1-AS1 (S380N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158466	NM_001394311.1(SCMH1):c.1613C>T (p.Pro538Leu)	SCMH1, SLFNL1-AS1 (P481L +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 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 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, COL9A2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638727	NM_001394311.1(SCMH1):c.1668A>G (p.Leu556=)	SCMH1, SLFNL1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 2481052	NM_001394311.1(SCMH1):c.1628G>A (p.Cys543Tyr)	SCMH1, SLFNL1-AS1 (C486Y +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 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 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 2381925	NM_001394311.1(SCMH1):c.107-948G>C	SCMH1 (D15H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2373461	NM_001394311.1(SCMH1):c.1889A>G (p.Glu630Gly)	SCMH1, SLFNL1-AS1 (E510G +12 more)	Single nucleotide variant (missense variant +1 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 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 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 2257715	NM_001394311.1(SCMH1):c.1499G>T (p.Gly500Val)	SCMH1, SLFNL1-AS1 (G399V +7 more)	Single nucleotide variant (missense variant +1 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 2219445	NM_001394311.1(SCMH1):c.1751A>G (p.Asp584Gly)	SCMH1, SLFNL1-AS1 (D464G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2212701	NM_001394311.1(SCMH1):c.1558A>G (p.Met520Val)	SCMH1, SLFNL1-AS1 (M342V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212687	NM_001394311.1(SCMH1):c.1531C>T (p.Arg511Cys)	SCMH1, SLFNL1-AS1 (R501C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1410532	NC_000001.10:g.(?_41474523)_(41510926_?)del	CTPS1, SCMH1 +1 more	Deletion	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394139	GRCh37/hg19 1p34.2(chr1:41086977-41670357)x3	CITED4, CTPS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 242842	GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1	RIMKLA, FOXO6 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 49