ClinVar for Gene (Select 120400) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203514	NM_001395504.1(NXPE1):c.1211C>T (p.Pro404Leu)	NXPE1, NXPE2 (P262L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203513	NM_001395504.1(NXPE1):c.1064C>T (p.Ser355Phe)	NXPE1, NXPE2 (S213F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203512	NM_001395504.1(NXPE1):c.1020A>G (p.Ile340Met)	NXPE1, NXPE2 (I340M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203511	NM_001395504.1(NXPE1):c.899G>A (p.Arg300Lys)	NXPE1, NXPE2 (R158K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203510	NM_001395504.1(NXPE1):c.866G>A (p.Arg289His)	NXPE1, NXPE2 (R147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203509	NM_001395504.1(NXPE1):c.565G>T (p.Ala189Ser)	NXPE1, NXPE2 (A189S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203508	NM_001395504.1(NXPE1):c.1444G>C (p.Glu482Gln)	NXPE1, NXPE2 (E340Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2616314	NM_001395504.1(NXPE1):c.865C>T (p.Arg289Cys)	NXPE1, NXPE2 (R147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614689	NM_001395504.1(NXPE1):c.521G>T (p.Gly174Val)	NXPE1, NXPE2 (G32V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612285	NM_001395504.1(NXPE1):c.776C>A (p.Thr259Asn)	NXPE1, NXPE2 (T259N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603982	NM_001395504.1(NXPE1):c.844G>C (p.Gly282Arg)	NXPE1, NXPE2 (G282R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569756	NM_001395504.1(NXPE1):c.1579A>G (p.Thr527Ala)	NXPE1, NXPE2 (T527A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557879	NM_001395504.1(NXPE1):c.1529A>G (p.Asn510Ser)	NXPE1, NXPE2 (N368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536164	NM_001395504.1(NXPE1):c.1048T>C (p.Tyr350His)	NXPE1, NXPE2 (Y350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524712	NM_001395504.1(NXPE1):c.730T>C (p.Cys244Arg)	NXPE1, NXPE2 (C244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480104	NM_001395504.1(NXPE1):c.1610A>G (p.Asn537Ser)	NXPE1, NXPE2 (N537S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466057	NM_001395504.1(NXPE1):c.454G>A (p.Ala152Thr)	NXPE1, NXPE2 (A10T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458945	NM_001395504.1(NXPE1):c.1302C>G (p.Ile434Met)	NXPE1, NXPE2 (I292M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394949	NM_001395504.1(NXPE1):c.644A>G (p.His215Arg)	NXPE1, NXPE2 (H215R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332864	NM_001395504.1(NXPE1):c.1152A>T (p.Lys384Asn)	NXPE1, NXPE2 (K384N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326214	NM_001395504.1(NXPE1):c.1181C>T (p.Thr394Ile)	NXPE1, NXPE2 (T394I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311367	NM_001395504.1(NXPE1):c.1297G>A (p.Ala433Thr)	NXPE1, NXPE2 (A291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281624	NM_001395504.1(NXPE1):c.532C>A (p.Leu178Met)	NXPE1, NXPE2 (L178M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263598	NM_001395504.1(NXPE1):c.1322A>G (p.His441Arg)	NXPE1, NXPE2 (H299R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256169	NM_001395504.1(NXPE1):c.667A>T (p.Thr223Ser)	NXPE1, NXPE2 (T81S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246591	NM_001395504.1(NXPE1):c.676T>C (p.Ser226Pro)	NXPE1, NXPE2 (S84P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222201	NM_001395504.1(NXPE1):c.1261C>T (p.Arg421Trp)	NXPE1, NXPE2 (R421W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211222	NM_001395504.1(NXPE1):c.802C>G (p.Leu268Val)	NXPE1, NXPE2 (L126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	GRIA4, GRIK4 +956 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	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +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 786215	NM_001395504.1(NXPE1):c.1215C>T (p.Phe405=)	NXPE1, NXPE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720449	NM_001395504.1(NXPE1):c.952G>A (p.Gly318Ser)	NXPE1, NXPE2 (G318S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716566	NM_001395504.1(NXPE1):c.570G>A (p.Ser190=)	NXPE1, NXPE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 563807	GRCh37/hg19 11q23.2(chr11:114355377-114409358)x1	NXPE1	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48