LPXN[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 2398757	NM_004811.3(LPXN):c.938G>A (p.Gly313Glu)	LPXN (G313E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535858	NM_004811.3(LPXN):c.916G>A (p.Gly306Ser)	LPXN (G286S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641804	NM_004811.3(LPXN):c.900C>T (p.Phe300=)	LPXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2318245	NM_004811.3(LPXN):c.862G>C (p.Val288Leu)	LPXN (V268L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533643	NM_004811.3(LPXN):c.799T>C (p.Ser267Pro)	LPXN (S267P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641805	NM_004811.3(LPXN):c.743-6C>T	LPXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3119821	NM_004811.3(LPXN):c.683A>G (p.Gln228Arg)	LPXN (Q208R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556066	NM_004811.3(LPXN):c.603C>G (p.Asn201Lys)	LPXN (N206K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119820	NM_004811.3(LPXN):c.584G>T (p.Gly195Val)	LPXN (G175V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119819	NM_004811.3(LPXN):c.578G>A (p.Arg193Gln)	LPXN (R193Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119818	NM_004811.3(LPXN):c.557G>C (p.Gly186Ala)	LPXN (G166A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119817	NM_004811.3(LPXN):c.544A>C (p.Lys182Gln)	LPXN (K182Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119816	NM_004811.3(LPXN):c.482G>A (p.Gly161Glu)	LPXN (G161E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530618	NM_004811.3(LPXN):c.481G>A (p.Gly161Arg)	LPXN (G166R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240049	NM_004811.3(LPXN):c.412G>A (p.Glu138Lys)	LPXN (E143K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247358	NM_004811.3(LPXN):c.348G>C (p.Lys116Asn)	LPXN (K116N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384857	NM_004811.3(LPXN):c.332C>A (p.Ala111Glu)	LPXN (A111E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119814	NM_004811.3(LPXN):c.194A>G (p.Asn65Ser)	LPXN (N65S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473310	NM_004811.3(LPXN):c.139C>T (p.Leu47Phe)	LPXN (L47F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119813	NM_004811.3(LPXN):c.135G>C (p.Glu45Asp)	LPXN (E50D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542956	NM_004811.3(LPXN):c.91G>A (p.Asp31Asn)	LPXN (W26* +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119815	NM_004811.3(LPXN):c.20T>C (p.Leu7Ser)	LPXN (L12S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 972998	GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3	CNTF, GLYAT +5 more	Copy number gain	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	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

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Items: 32