ClinVar for Gene (Select 390110) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261440	NM_001031854.2(ACCSL):c.800A>C (p.Tyr267Ser)	ACCSL (Y267S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261439	NM_001031854.2(ACCSL):c.1066A>G (p.Ile356Val)	ACCSL (I356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261438	NM_001031854.2(ACCSL):c.443C>T (p.Ser148Leu)	ACCSL (S148L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261437	NM_001031854.2(ACCSL):c.260C>T (p.Ala87Val)	ACCSL (A87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136212	NM_001031854.2(ACCSL):c.764A>G (p.Asp255Gly)	ACCSL (D255G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136197	NM_001031854.2(ACCSL):c.616G>C (p.Asp206His)	ACCSL (D25H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136193	NM_001031854.2(ACCSL):c.599C>T (p.Thr200Ile)	ACCSL (T19I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136189	NM_001031854.2(ACCSL):c.506G>A (p.Gly169Asp)	ACCSL (G169D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136179	NM_001031854.2(ACCSL):c.308G>T (p.Gly103Val)	ACCSL (G103V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136174	NM_001031854.2(ACCSL):c.298G>A (p.Asp100Asn)	ACCSL (D100N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136162	NM_001031854.2(ACCSL):c.1664A>C (p.Glu555Ala)	ACCSL (E374A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136142	NM_001031854.2(ACCSL):c.1516C>T (p.Arg506Cys)	ACCSL (R325C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136129	NM_001031854.2(ACCSL):c.1207C>T (p.Arg403Cys)	ACCSL (R403C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136128	NM_001031854.2(ACCSL):c.11G>A (p.Arg4Gln)	ACCSL (R4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136126	NM_001031854.2(ACCSL):c.1100A>C (p.Asp367Ala)	ACCSL (D367A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136124	NM_001031854.2(ACCSL):c.1055A>G (p.Asn352Ser)	ACCSL (N171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641729	NM_001031854.2(ACCSL):c.166G>T (p.Glu56Ter)	ACCSL (E56*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2613794	NM_001031854.2(ACCSL):c.991C>G (p.Pro331Ala)	ACCSL (P150A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566545	NM_001031854.2(ACCSL):c.1050G>A (p.Arg350=)	ACCSL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2551670	NM_001031854.2(ACCSL):c.1533G>T (p.Lys511Asn)	ACCSL (K511N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545387	NM_001031854.2(ACCSL):c.1286G>T (p.Gly429Val)	ACCSL (G429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541900	NM_001031854.2(ACCSL):c.1379C>T (p.Ala460Val)	ACCSL (A279V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539411	NM_001031854.2(ACCSL):c.641G>A (p.Arg214Gln)	ACCSL (R214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521191	NM_001031854.2(ACCSL):c.1612C>T (p.Arg538Trp)	ACCSL (R357W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511329	NM_001031854.2(ACCSL):c.1546C>T (p.Arg516Cys)	ACCSL (R516C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510225	NM_001031854.2(ACCSL):c.122C>T (p.Thr41Met)	ACCSL (T41M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508705	NM_001031854.2(ACCSL):c.551T>C (p.Leu184Pro)	ACCSL (L3P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485072	NM_001031854.2(ACCSL):c.1057C>A (p.Leu353Ile)	ACCSL (L172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410755	NM_001031854.2(ACCSL):c.1366C>T (p.Arg456Trp)	ACCSL (R275W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401937	NM_001031854.2(ACCSL):c.229C>T (p.Arg77Trp)	ACCSL (R77W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391579	NM_001031854.2(ACCSL):c.1613G>A (p.Arg538Gln)	ACCSL (R538Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379548	NM_001031854.2(ACCSL):c.412C>T (p.Arg138Cys)	ACCSL (R138C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346235	NM_001031854.2(ACCSL):c.481T>C (p.Tyr161His)	ACCSL (Y161H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321052	NM_001031854.2(ACCSL):c.1674A>G (p.Ile558Met)	ACCSL (I377M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316165	NM_001031854.2(ACCSL):c.706G>A (p.Val236Met)	ACCSL (V236M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307097	NM_001031854.2(ACCSL):c.259G>A (p.Ala87Thr)	ACCSL (A87T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2306536	NM_001031854.2(ACCSL):c.1233C>G (p.Asn411Lys)	ACCSL (N230K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268668	NM_001031854.2(ACCSL):c.1622T>C (p.Leu541Ser)	ACCSL (L541S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254052	NM_001031854.2(ACCSL):c.332C>T (p.Ala111Val)	ACCSL (A111V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251232	NM_001031854.2(ACCSL):c.891T>A (p.His297Gln)	ACCSL (H116Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212120	NM_001031854.2(ACCSL):c.619T>C (p.Trp207Arg)	ACCSL (W26R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809500	GRCh37/hg19 11p11.2(chr11:44039234-44111005)x1	ACCS, ACCSL	Copy number loss	not provided	GUncertain significance
Select item 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703555	GRCh37/hg19 11p11.2(chr11:43769957-44952669)	ACCS, ACCSL +7 more	Copy number loss	Potocki-Shaffer syndrome	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979923	GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3	ALKBH3, API5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815430	GRCh37/hg19 11p11.2(chr11:43757860-44118731)x3	HSD17B12, EXT2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815429	GRCh37/hg19 11p11.2(chr11:43664817-44889240)x3	CD82, C11orf96 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563808	GRCh37/hg19 11p11.2(chr11:44039233-44101807)x1	ACCSL, ACCS	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +74 more	Copy number gain	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 62