NPTXR[gene] - ClinVar

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Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 60013	GRCh38/hg38 22q13.1(chr22:38696778-38898386)x1	CBX6, DNAL4 +20 more	Copy number loss	See cases	GUncertain significance
Select item 3300870	NM_014293.4(NPTXR):c.1474G>A (p.Asp492Asn)	NPTXR (D492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201816	NM_014293.4(NPTXR):c.1456G>A (p.Ala486Thr)	NPTXR (A486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201815	NM_014293.4(NPTXR):c.1442A>T (p.Glu481Val)	NPTXR (E481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201814	NM_014293.4(NPTXR):c.1438G>A (p.Val480Met)	NPTXR (V480M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487965	NM_014293.4(NPTXR):c.1417C>G (p.Leu473Val)	NPTXR (L473V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397239	NM_014293.4(NPTXR):c.1411A>G (p.Asn471Asp)	NPTXR (N471D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300868	NM_014293.4(NPTXR):c.1397C>T (p.Ala466Val)	NPTXR (A466V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201812	NM_014293.4(NPTXR):c.1306A>G (p.Thr436Ala)	NPTXR (T436A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307856	NM_014293.4(NPTXR):c.1303G>T (p.Ala435Ser)	NPTXR (A435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285657	NM_014293.4(NPTXR):c.1283C>A (p.Thr428Asn)	NPTXR (T428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201811	NM_014293.4(NPTXR):c.1195G>A (p.Gly399Arg)	NPTXR (G399R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305112	NM_014293.4(NPTXR):c.1139A>G (p.His380Arg)	NPTXR (H380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374626	NM_014293.4(NPTXR):c.1061C>T (p.Ala354Val)	NPTXR (A354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201809	NM_014293.4(NPTXR):c.1003G>A (p.Gly335Ser)	NPTXR (G335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589059	NM_014293.4(NPTXR):c.997G>A (p.Gly333Ser)	NPTXR (G333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300867	NM_014293.4(NPTXR):c.977G>A (p.Arg326Gln)	NPTXR (R326Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201822	NM_014293.4(NPTXR):c.925G>T (p.Val309Leu)	NPTXR (V309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236232	NM_014293.4(NPTXR):c.901C>T (p.Arg301Cys)	NPTXR (R301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534363	NM_014293.4(NPTXR):c.896C>G (p.Pro299Arg)	NPTXR (P299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300866	NM_014293.4(NPTXR):c.865A>G (p.Ser289Gly)	NPTXR (S289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596841	NM_014293.4(NPTXR):c.830G>A (p.Arg277His)	NPTXR (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201821	NM_014293.4(NPTXR):c.785G>A (p.Arg262Gln)	NPTXR (R262Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300871	NM_014293.4(NPTXR):c.766C>T (p.Leu256Phe)	NPTXR (L256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201820	NM_014293.4(NPTXR):c.608G>A (p.Arg203His)	NPTXR (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340735	NM_014293.4(NPTXR):c.595G>A (p.Ala199Thr)	NPTXR (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306096	NM_014293.4(NPTXR):c.585C>G (p.Asp195Glu)	NPTXR (D195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611522	NM_014293.4(NPTXR):c.563C>G (p.Ala188Gly)	NPTXR (A188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399669	NM_014293.4(NPTXR):c.556T>C (p.Ser186Pro)	NPTXR (S186P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300869	NM_014293.4(NPTXR):c.554A>G (p.Asp185Gly)	NPTXR (D185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323497	NM_014293.4(NPTXR):c.536T>G (p.Met179Arg)	NPTXR (M179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201819	NM_014293.4(NPTXR):c.524G>C (p.Arg175Pro)	NPTXR (R175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534347	NM_014293.4(NPTXR):c.514G>C (p.Ala172Pro)	NPTXR (A172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534346	NM_014293.4(NPTXR):c.512G>A (p.Gly171Asp)	NPTXR (G171D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201818	NM_014293.4(NPTXR):c.395A>G (p.Gln132Arg)	NPTXR (Q132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201817	NM_014293.4(NPTXR):c.385A>G (p.Thr129Ala)	NPTXR (T129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353913	NM_014293.4(NPTXR):c.383G>A (p.Ser128Asn)	NPTXR (S128N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492807	NM_014293.4(NPTXR):c.382A>C (p.Ser128Arg)	NPTXR (S128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322597	NM_014293.4(NPTXR):c.169C>T (p.Arg57Trp)	NPTXR (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405792	NM_014293.4(NPTXR):c.163C>A (p.Pro55Thr)	NPTXR (P55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569422	NM_014293.4(NPTXR):c.143G>C (p.Gly48Ala)	NPTXR (G48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201813	NM_014293.4(NPTXR):c.136G>A (p.Ala46Thr)	NPTXR (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569421	NM_014293.4(NPTXR):c.134T>C (p.Val45Ala)	NPTXR (V45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464088	NM_014293.4(NPTXR):c.112G>A (p.Gly38Ser)	NPTXR (G38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201810	NM_014293.4(NPTXR):c.100C>T (p.Arg34Trp)	NPTXR (R34W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2685676	GRCh37/hg19 22q13.1(chr22:39040762-39271911)x1	CBX6, CBY1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 638097	GRCh37/hg19 22q13.1(chr22:38838246-39260032)x1	CBY1, DDX17 +10 more	Copy number loss	See cases	GUncertain significance
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 68