NXPE4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 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 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 2352419	NM_001077639.2(NXPE4):c.1597G>A (p.Gly533Arg)	NXPE2, NXPE4 (G249R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533916	NM_001077639.2(NXPE4):c.1572T>G (p.Asn524Lys)	NXPE2, NXPE4 (N524K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203539	NM_001077639.2(NXPE4):c.1532T>C (p.Ile511Thr)	NXPE2, NXPE4 (I511T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212035	NM_001077639.2(NXPE4):c.1484A>T (p.Gln495Leu)	NXPE2, NXPE4 (Q211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212034	NM_001077639.2(NXPE4):c.1456A>G (p.Arg486Gly)	NXPE2, NXPE4 (R202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306607	NM_001077639.2(NXPE4):c.1403C>T (p.Thr468Ile)	NXPE2, NXPE4 (T184I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203538	NM_001077639.2(NXPE4):c.1402A>C (p.Thr468Pro)	NXPE2, NXPE4 (T184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250318	NM_001077639.2(NXPE4):c.1306G>C (p.Gly436Arg)	NXPE2, NXPE4 (G436R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203537	NM_001077639.2(NXPE4):c.1289T>C (p.Val430Ala)	NXPE2, NXPE4 (V146A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203536	NM_001077639.2(NXPE4):c.1274G>A (p.Gly425Glu)	NXPE2, NXPE4 (G425E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203535	NM_001077639.2(NXPE4):c.1270G>A (p.Gly424Arg)	NXPE2, NXPE4 (G424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275574	NM_001077639.2(NXPE4):c.1256C>T (p.Ala419Val)	NXPE2, NXPE4 (A135V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557279	NM_001077639.2(NXPE4):c.1232A>C (p.Lys411Thr)	NXPE2, NXPE4 (K127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612499	NM_001077639.2(NXPE4):c.1228G>C (p.Val410Leu)	NXPE2, NXPE4 (V126L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381423	NM_001077639.2(NXPE4):c.1075G>A (p.Glu359Lys)	NXPE2, NXPE4 (E359K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203534	NM_001077639.2(NXPE4):c.1064G>A (p.Arg355His)	NXPE2, NXPE4 (R71H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203533	NM_001077639.2(NXPE4):c.1063C>T (p.Arg355Cys)	NXPE2, NXPE4 (R71C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614217	NM_001077639.2(NXPE4):c.1055C>G (p.Ser352Cys)	NXPE2, NXPE4 (S352C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203544	NM_001077639.2(NXPE4):c.940A>G (p.Thr314Ala)	NXPE2, NXPE4 (T30A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203543	NM_001077639.2(NXPE4):c.907A>G (p.Met303Val)	NXPE2, NXPE4 (M19V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343196	NM_001077639.2(NXPE4):c.752G>A (p.Cys251Tyr)	NXPE2, NXPE4 (C251Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364836	NM_001077639.2(NXPE4):c.634A>G (p.Thr212Ala)	NXPE2, NXPE4 (T212A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514067	NM_001077639.2(NXPE4):c.550C>T (p.Pro184Ser)	NXPE2, NXPE4 (P184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601870	NM_001077639.2(NXPE4):c.480C>A (p.Asn160Lys)	NXPE2, NXPE4 (N160K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391184	NM_001077639.2(NXPE4):c.437C>T (p.Ala146Val)	NXPE2, NXPE4 (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203541	NM_001077639.2(NXPE4):c.434C>T (p.Pro145Leu)	NXPE2, NXPE4 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205758	NM_001077639.2(NXPE4):c.385C>T (p.Arg129Cys)	NXPE2, NXPE4 (R129C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343921	NM_001077639.2(NXPE4):c.329C>T (p.Thr110Met)	NXPE2, NXPE4 (T110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595980	NM_001077639.2(NXPE4):c.289G>A (p.Ala97Thr)	NXPE2, NXPE4 (A97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365492	NM_001077639.2(NXPE4):c.284C>T (p.Thr95Ile)	NXPE2, NXPE4 (T95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203540	NM_001077639.2(NXPE4):c.226A>G (p.Ile76Val)	NXPE2, NXPE4 (I76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242087	NM_001077639.2(NXPE4):c.214A>G (p.Ile72Val)	NXPE2, NXPE4 (I72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362450	NM_001077639.2(NXPE4):c.213A>T (p.Arg71Ser)	NXPE2, NXPE4 (R71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301076	NM_001077639.2(NXPE4):c.103T>C (p.Ser35Pro)	NXPE2, NXPE4 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275389	NM_001077639.2(NXPE4):c.102G>C (p.Trp34Cys)	NXPE2, NXPE4 (W34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203545	NM_001077639.2(NXPE4):c.94A>G (p.Lys32Glu)	NXPE2, NXPE4 (K32E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209367	NM_001077639.2(NXPE4):c.88T>C (p.Ser30Pro)	NXPE2, NXPE4 (S30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540206	NM_001077639.2(NXPE4):c.46T>C (p.Phe16Leu)	NXPE2, NXPE4 (F16L)	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	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 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
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)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55