435[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +113 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998532, LOC129998533 +350 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	LOC129998632, LOC129998633 +349 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	See cases	GPathogenic
Select item 150828	GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3	ASL, CRCP +34 more	Copy number gain	See cases	GLikely benign
Select item 360563	NM_000048.4(ASL):c.-44+9G>A	ASL, LOC129998525	Single nucleotide variant (5 prime UTR variant +1 more)	Argininosuccinate lyase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 383905	NM_000048.4(ASL):c.-44+10C>T	ASL, LOC129998525	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 911819	NM_000048.4(ASL):c.-34A>G	ASL	Single nucleotide variant (5 prime UTR variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 360564	NM_000048.4(ASL):c.-31G>A	ASL	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 652397	NC_000007.14:g.(?_66076062)_(66092932_?)del	ASL, LOC129998526	Deletion	Argininosuccinate lyase deficiency	GPathogenic
Select item 908864	NM_000048.4(ASL):c.-16C>T	ASL	Single nucleotide variant (5 prime UTR variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 2189609	NM_000048.4(ASL):c.5C>A (p.Ala2Asp)	ASL (A2D)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GUncertain significance
Select item 2016471	NM_000048.4(ASL):c.12+8G>A	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1081673	NM_000048.4(ASL):c.12+10A>T	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2738368	NM_000048.4(ASL):c.12+11C>A	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2905562	NM_000048.4(ASL):c.12+14C>T	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2801063	NM_000048.4(ASL):c.12+15G>T	LOC129998526, ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2849933	NM_000048.4(ASL):c.12+17G>A	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2853137	NM_000048.4(ASL):c.12+20C>A	ASL, LOC129998526	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1177030	NM_000048.4(ASL):c.12+105C>T	ASL, LOC129998526	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 680525	NM_000048.4(ASL):c.12+227C>G	ASL, LOC129998526	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193577	NM_000048.4(ASL):c.13-209del	ASL	Deletion (intron variant)	not provided	GLikely benign
Select item 2089072	NM_000048.4(ASL):c.13-19T>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2838743	NM_000048.4(ASL):c.13-14G>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2803020	NM_000048.4(ASL):c.13-12T>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1661777	NM_000048.4(ASL):c.13-10T>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1105076	NM_000048.4(ASL):c.13-8C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3007038	NM_000048.4(ASL):c.13-7T>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 788346	NM_000048.4(ASL):c.13-4C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2825471	NM_000048.4(ASL):c.13-2A>G	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 553491	NM_000048.4(ASL):c.13-1G>C	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2092450	NM_000048.4(ASL):c.18G>A (p.Gly6=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2678621	NM_000048.4(ASL):c.29del (p.Gly10fs)	ASL (G10fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 908865	NM_000048.4(ASL):c.29G>A (p.Gly10Asp)	ASL (G10D)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 1518921	NM_000048.4(ASL):c.34C>T (p.Arg12Trp)	ASL (R12W)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2581264	NM_000048.4(ASL):c.35G>T (p.Arg12Leu)	ASL (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 92360	NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	ASL (R12Q)	Single nucleotide variant (missense variant)	ASL-related condition +3 more	GPathogenic/Likely pathogenic
Select item 1614857	NM_000048.4(ASL):c.45T>C (p.Gly15=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 3017808	NM_000048.4(ASL):c.48A>G (p.Ala16=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2864572	NM_000048.4(ASL):c.51G>A (p.Val17=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2212962	NM_000048.4(ASL):c.52G>A (p.Asp18Asn)	ASL (D18N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1725050	NM_000048.4(ASL):c.57del (p.Ile20fs)	ASL (I20fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 1156143	NM_000048.4(ASL):c.54C>T (p.Asp18=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2005777	NM_000048.4(ASL):c.58del (p.Ile20fs)	ASL (I20fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 1124426	NM_000048.4(ASL):c.60C>T (p.Ile20=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 840407	NM_000048.4(ASL):c.62T>C (p.Met21Thr)	ASL (M21T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2832778	NM_000048.4(ASL):c.66G>A (p.Glu22=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 705809	NM_000048.4(ASL):c.72C>T (p.Phe24=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 747525	NM_000048.4(ASL):c.75C>T (p.Asn25=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 990542	NM_000048.4(ASL):c.76G>A (p.Ala26Thr)	ASL (A26T)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 1022218	NM_000048.4(ASL):c.77C>T (p.Ala26Val)	ASL (A26V)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 1129797	NM_000048.4(ASL):c.78G>C (p.Ala26=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1085860	NM_000048.4(ASL):c.78G>T (p.Ala26=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1078755	NM_000048.4(ASL):c.78G>A (p.Ala26=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1661758	NM_000048.4(ASL):c.81C>T (p.Ser27=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2598643	NM_000048.4(ASL):c.83T>C (p.Ile28Thr)	ASL (I28T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 529430	NM_000048.4(ASL):c.90C>T (p.Tyr30=)	ASL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 551039	NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	ASL (D31N)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 459923	NM_000048.4(ASL):c.94_100del (p.Arg32fs)	ASL (R32fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 2149233	NM_000048.4(ASL):c.94C>T (p.Arg32Trp)	ASL (R32W)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 1431210	NM_000048.4(ASL):c.95G>A (p.Arg32Gln)	ASL (R32Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 1641338	NM_000048.4(ASL):c.96G>C (p.Arg32=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2077933	NM_000048.4(ASL):c.99C>A (p.His33Gln)	ASL (H33Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1561576	NM_000048.4(ASL):c.99C>T (p.His33=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 721020	NM_000048.4(ASL):c.99C>G (p.His33Gln)	ASL (H33Q)	Single nucleotide variant (missense variant)	ASL-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2772590	NM_000048.4(ASL):c.104G>A (p.Trp35Ter)	ASL (W35*)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency	GPathogenic
Select item 2678767	NM_000048.4(ASL):c.106G>T (p.Glu36Ter)	ASL (E36*)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency	GPathogenic
Select item 555199	NM_000048.4(ASL):c.111_133del (p.Asp38fs)	ASL (D38fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 2781901	NM_000048.4(ASL):c.114T>C (p.Asp38=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2695641	NM_000048.4(ASL):c.115G>T (p.Val39Phe)	ASL (V39F)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 1725471	NM_000048.4(ASL):c.117del (p.Gln40fs)	ASL (Q40fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 1725027	NM_000048.4(ASL):c.118_119del (p.Gln40fs)	ASL (Q40fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 1093290	NM_000048.4(ASL):c.120A>G (p.Gln40=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 577337	NM_000048.4(ASL):c.122G>A (p.Gly41Asp)	ASL (G41D)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 1508100	NM_000048.4(ASL):c.131C>G (p.Ala44Gly)	ASL (A44G)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 551377	NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)	ASL (Y45N)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 459920	NM_000048.4(ASL):c.135C>T (p.Tyr45=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1725642	NM_000048.4(ASL):c.143del (p.Gly48fs)	ASL (G48fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 1594944	NM_000048.4(ASL):c.141G>A (p.Arg47=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2851986	NM_000048.4(ASL):c.144C>T (p.Gly48=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2851810	NM_000048.4(ASL):c.145C>A (p.Leu49Met)	ASL (L49M)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 360565	NM_000048.4(ASL):c.155C>T (p.Ala52Val)	ASL (A52V)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 970166	NM_000048.4(ASL):c.159del (p.Leu54fs)	ASL (L54fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 515755	NM_000048.4(ASL):c.159G>A (p.Gly53=)	ASL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 383016	NM_000048.4(ASL):c.162C>T (p.Leu54=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency +2 more	GBenign/Likely benign
Select item 2187181	NM_000048.4(ASL):c.165C>T (p.Leu55=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2767604	NM_000048.4(ASL):c.174C>A (p.Ala58=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 724862	NM_000048.4(ASL):c.174C>T (p.Ala58=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 224970	NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	ASL (E59K)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2771347	NM_000048.4(ASL):c.176A>T (p.Glu59Val)	ASL (E59V)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 388261	NM_000048.4(ASL):c.183C>T (p.Asp61=)	ASL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 754423	NM_000048.4(ASL):c.195T>C (p.His65=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 1154694	NM_000048.4(ASL):c.204C>T (p.Asp68=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 285041	NM_000048.4(ASL):c.207G>A (p.Lys69=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency +1 more	GUncertain significance
Select item 1932340	NM_000048.4(ASL):c.207+8C>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2918000	NM_000048.4(ASL):c.207+9C>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign
Select item 2817393	NM_000048.4(ASL):c.207+9C>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely benign

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