17587[HGNC] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 2514697	NM_014342.4(MTCH2):c.887G>T (p.Cys296Phe)	MTCH2 (C296F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306035	NM_014342.4(MTCH2):c.758G>C (p.Gly253Ala)	MTCH2 (G244A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598695	NM_014342.4(MTCH2):c.725A>G (p.Asn242Ser)	MTCH2 (N94S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208870	NM_014342.4(MTCH2):c.587G>A (p.Cys196Tyr)	MTCH2 (C187Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250507	NM_014342.4(MTCH2):c.511C>T (p.Arg171Trp)	MTCH2 (R162W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325655	NM_014342.4(MTCH2):c.464G>A (p.Arg155Lys)	MTCH2 (R7K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213632	NM_014342.4(MTCH2):c.430A>G (p.Ile144Val)	MTCH2 (I135V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233429	NM_014342.4(MTCH2):c.386T>C (p.Ile129Thr)	MTCH2 (I120T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230032	NM_014342.4(MTCH2):c.317C>T (p.Pro106Leu)	MTCH2 (P106L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256995	NM_014342.4(MTCH2):c.302G>A (p.Gly101Asp)	MTCH2 (G101D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458612	NM_014342.4(MTCH2):c.205G>A (p.Gly69Arg)	MTCH2 (G69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588963	NM_014342.4(MTCH2):c.164T>C (p.Phe55Ser)	MTCH2 (F55S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327686	NM_014342.4(MTCH2):c.158G>A (p.Gly53Asp)	MTCH2 (G53D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550411	NM_014342.4(MTCH2):c.143T>G (p.Val48Gly)	MTCH2 (V48G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213608	NM_014342.4(MTCH2):c.136C>T (p.Arg46Trp)	MTCH2 (R46W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267687	NM_014342.4(MTCH2):c.116T>C (p.Ile39Thr)	MTCH2 (I39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213604	NM_014342.4(MTCH2):c.113C>T (p.Thr38Ile)	MTCH2 (T38I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511694	NM_014342.4(MTCH2):c.46A>C (p.Ile16Leu)	MTCH2 (I16L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
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 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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

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Items: 29