7861[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 2366488	NM_006169.3(NNMT):c.42T>A (p.His14Gln)	NNMT (H14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463523	NM_006169.3(NNMT):c.52C>T (p.Arg18Trp)	NNMT (R18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471407	NM_006169.3(NNMT):c.53G>A (p.Arg18Gln)	NNMT (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300188	NM_006169.3(NNMT):c.119A>C (p.His40Pro)	NNMT (H40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459847	NM_006169.3(NNMT):c.157G>T (p.Gly53Cys)	NNMT (G53C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200877	NM_006169.3(NNMT):c.166G>A (p.Gly56Arg)	NNMT (G56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300185	NM_006169.3(NNMT):c.206A>G (p.Tyr69Cys)	NNMT (Y69C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235157	NM_006169.3(NNMT):c.211C>A (p.Leu71Ile)	NNMT (L71I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200878	NM_006169.3(NNMT):c.266A>C (p.Gln89Pro)	NNMT (Q89P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215256	NM_006169.3(NNMT):c.350T>C (p.Leu117Pro)	NNMT (L117P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200879	NM_006169.3(NNMT):c.478G>A (p.Val160Met)	NNMT (V160M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388562	NM_006169.3(NNMT):c.478G>C (p.Val160Leu)	NNMT (V160L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3200880	NM_006169.3(NNMT):c.491T>C (p.Leu164Pro)	NNMT (L164P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463418	NM_006169.3(NNMT):c.505G>A (p.Ala169Thr)	NNMT (A169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200881	NM_006169.3(NNMT):c.516C>A (p.Asp172Glu)	NNMT (D172E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200882	NM_006169.3(NNMT):c.536C>T (p.Ala179Val)	NNMT (A179V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355184	NM_006169.3(NNMT):c.546C>A (p.Asn182Lys)	NNMT (N182K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300187	NM_006169.3(NNMT):c.560T>G (p.Leu187Arg)	NNMT (L187R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225674	NM_006169.3(NNMT):c.560T>A (p.Leu187Gln)	NNMT (L187Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485335	NM_006169.3(NNMT):c.613A>G (p.Met205Val)	NNMT (M205V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319489	NM_006169.3(NNMT):c.652C>T (p.Arg218Trp)	NNMT (R218W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246816	NM_006169.3(NNMT):c.653G>A (p.Arg218Gln)	NNMT (R218Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507749	NM_006169.3(NNMT):c.770C>T (p.Ala257Val)	NNMT (A257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	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: 40