471[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57418	GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3	ABCA12, ATIC +36 more	Copy number gain	See cases	GUncertain significance
Select item 145317	GRCh38/hg38 2q35(chr2:214785851-215383000)x3	ABCA12, ATIC +11 more	Copy number gain	See cases	GUncertain significance
Select item 1192365	NM_004044.7(ATIC):c.-218A>G	ATIC	Single nucleotide variant	not provided +1 more	GBenign
Select item 1192366	NM_004044.7(ATIC):c.-59T>G	ATIC	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 785991	NM_004044.7(ATIC):c.5C>T (p.Ala2Val)	ATIC (A2V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2651868	NM_004044.7(ATIC):c.19+94G>A	ATIC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2488014	NM_004044.7(ATIC):c.52G>C (p.Val18Leu)	ATIC (V18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1947242	NM_004044.7(ATIC):c.91C>G (p.Leu31Val)	ATIC (L31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058388	NM_004044.7(ATIC):c.102C>T (p.Ser34=)	ATIC	Single nucleotide variant (synonymous variant)	ATIC-related disorder	GLikely benign
Select item 2320891	NM_004044.7(ATIC):c.112G>A (p.Ala38Thr)	ATIC (A38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439310	NM_004044.7(ATIC):c.131delinsGCA (p.Ala44fs)	ATIC (A44fs)	Indel (frameshift variant)	AICA-ribosiduria	GUncertain significance
Select item 7811	NM_004044.7(ATIC):c.131delinsGGA (p.Ala44fs)	ATIC (A44fs)	Indel (frameshift variant)	AICA-ribosiduria	GPathogenic
Select item 1192367	NM_004044.7(ATIC):c.147-111A>T	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 3321573	NM_004044.7(ATIC):c.164C>T (p.Thr55Met)	ATIC (T55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2085654	NM_004044.7(ATIC):c.165G>A (p.Thr55=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131053	NM_004044.7(ATIC):c.212C>T (p.Ala71Val)	ATIC (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 772858	NM_004044.7(ATIC):c.224-8T>A	ATIC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2361995	NM_004044.7(ATIC):c.236G>A (p.Arg79His)	ATIC (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626876	NM_004044.7(ATIC):c.260A>G (p.Asp87Gly)	ATIC (D87G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2257182	NM_004044.7(ATIC):c.272T>C (p.Leu91Pro)	ATIC (L91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791888	NM_004044.7(ATIC):c.281A>G (p.Asn94Ser)	ATIC (N94S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1545064	NM_004044.7(ATIC):c.290+1371C>T	ATIC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 801893	NM_004044.7(ATIC):c.347C>G (p.Thr116Ser)	ATIC (T116S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2713713	NM_004044.7(ATIC):c.366G>A (p.Glu122=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446036	NM_004044.7(ATIC):c.379+1G>A	ATIC	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2981233	NM_004044.7(ATIC):c.379+15C>G	ATIC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192368	NM_004044.7(ATIC):c.380-19A>C	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 445428	NM_004044.7(ATIC):c.380-18G>A	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GLikely benign
Select item 2535223	NM_004044.7(ATIC):c.389C>G (p.Thr130Ser)	ATIC (T130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723522	NM_004044.7(ATIC):c.399A>G (p.Arg133=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733112	NM_004044.7(ATIC):c.402T>C (p.Ala134=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 666359	NM_004044.7(ATIC):c.406G>A (p.Ala136Thr)	ATIC (A136T)	Single nucleotide variant (missense variant)	AICA-ribosiduria	GUncertain significance
Select item 3375298	NM_004044.7(ATIC):c.418G>A (p.Ala140Thr)	ATIC (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2750737	NM_004044.7(ATIC):c.420T>C (p.Ala140=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554473	NM_004044.7(ATIC):c.428C>G (p.Thr143Arg)	ATIC (T143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729605	NM_004044.7(ATIC):c.435G>A (p.Val145=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701715	NM_004044.7(ATIC):c.461T>C (p.Val154Ala)	ATIC (V154A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648267	NM_004044.7(ATIC):c.480C>T (p.Ser160=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782941	NM_004044.7(ATIC):c.502T>C (p.Leu168=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601393	NM_004044.7(ATIC):c.532-12C>T	ATIC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2976150	NM_004044.7(ATIC):c.533C>T (p.Ala178Val)	ATIC (A178V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557848	NM_004044.7(ATIC):c.544A>T (p.Thr182Ser)	ATIC (T182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2723095	NM_004044.7(ATIC):c.545C>T (p.Thr182Met)	ATIC (T182M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638424	NM_004044.7(ATIC):c.548C>A (p.Ala183Glu)	ATIC (A183E)	Single nucleotide variant (missense variant)	AICA-ribosiduria +2 more	GUncertain significance
Select item 2217384	NM_004044.7(ATIC):c.563C>G (p.Ala188Gly)	ATIC (A188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721245	NM_004044.7(ATIC):c.573T>G (p.Asp191Glu)	ATIC (D191E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2717572	NM_004044.7(ATIC):c.590A>G (p.Tyr197Cys)	ATIC (Y197C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747586	NM_004044.7(ATIC):c.595A>G (p.Lys199Glu)	ATIC (K199E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710795	NM_004044.7(ATIC):c.600C>T (p.Gly200=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1708457	NM_004044.7(ATIC):c.642G>C (p.Gln214His)	ATIC (Q214H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1049798	NM_004044.7(ATIC):c.682A>T (p.Ile228Phe)	ATIC (I228F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2152712	NM_004044.7(ATIC):c.688+3A>G	ATIC	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 1548775	NM_004044.7(ATIC):c.688+9C>T	ATIC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2479291	NM_004044.7(ATIC):c.720G>C (p.Leu240Phe)	ATIC (L240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2070381	NM_004044.7(ATIC):c.723C>T (p.Cys241=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460623	NM_004044.7(ATIC):c.779C>T (p.Pro260Leu)	ATIC (P260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745701	NM_004044.7(ATIC):c.783C>T (p.Ala261=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 561183	NM_004044.7(ATIC):c.794del (p.Phe265fs)	ATIC (F265fs)	Deletion (frameshift variant)	AICA-ribosiduria	GUncertain significance
Select item 2966791	NM_004044.7(ATIC):c.814+9C>T	ATIC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1412552	NM_004044.7(ATIC):c.869A>G (p.Tyr290Cys)	ATIC (Y290C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327416	NM_004044.7(ATIC):c.871G>A (p.Asp291Asn)	ATIC (D291N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2132862	NM_004044.7(ATIC):c.923-2del	ATIC	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3131056	NM_004044.7(ATIC):c.931A>G (p.Arg311Gly)	ATIC (R311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384638	NM_004044.7(ATIC):c.932G>A (p.Arg311Lys)	ATIC (R311K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728731	NM_004044.7(ATIC):c.955G>A (p.Val319Ile)	ATIC (V319I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2619162	NM_004044.7(ATIC):c.1004G>C (p.Arg335Thr)	ATIC (R335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730029	NM_004044.7(ATIC):c.1014T>C (p.Ser338=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131050	NM_004044.7(ATIC):c.1057A>G (p.Ile353Val)	ATIC (I353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1496992	NM_004044.7(ATIC):c.1069A>G (p.Lys357Glu)	ATIC (K357E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801894	NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys)	ATIC (Y362C)	Single nucleotide variant (missense variant)	AICA-ribosiduria	GLikely pathogenic
Select item 1192369	NM_004044.7(ATIC):c.1098+60C>G	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1958286	NM_004044.7(ATIC):c.1131A>G (p.Glu377=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713260	NM_004044.7(ATIC):c.1139C>T (p.Thr380Ile)	ATIC (T380I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3321593	NM_004044.7(ATIC):c.1181T>C (p.Val394Ala)	ATIC (V394A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1545046	NM_004044.7(ATIC):c.1227+1537G>A	ATIC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192370	NM_004044.7(ATIC):c.1228-30A>G	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 376861	NM_004044.7(ATIC):c.1234G>A (p.Glu412Lys)	ATIC (E412K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2407284	NM_004044.7(ATIC):c.1252C>G (p.Leu418Val)	ATIC (L418V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1440349	NM_004044.7(ATIC):c.1252C>T (p.Leu418Phe)	ATIC (L418F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743700	NM_004044.7(ATIC):c.1257C>T (p.Ile419=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 7810	NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg)	ATIC (K426R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 709360	NM_004044.7(ATIC):c.1305C>T (p.Tyr435=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227555	NM_004044.7(ATIC):c.1327G>A (p.Gly443Ser)	ATIC (G443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321680	NM_004044.7(ATIC):c.1363A>C (p.Thr455Pro)	ATIC (T455P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455948	NM_004044.7(ATIC):c.1366C>T (p.Arg456Cys)	ATIC (R456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550986	NM_004044.7(ATIC):c.1373C>G (p.Ala458Gly)	ATIC (A458G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515257	NM_004044.7(ATIC):c.1408C>T (p.His470Tyr)	ATIC (H470Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1650319	NM_004044.7(ATIC):c.1411C>T (p.Pro471Ser)	ATIC (P471S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2249604	NM_004044.7(ATIC):c.1435A>G (p.Lys479Glu)	ATIC (K479E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1600148	NM_004044.7(ATIC):c.1443A>G (p.Gly481=)	ATIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2528020	NM_004044.7(ATIC):c.1453G>A (p.Ala485Thr)	ATIC (A485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1433611	NM_004044.7(ATIC):c.1471A>G (p.Ile491Val)	ATIC (I491V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030737	NM_004044.7(ATIC):c.1474G>T (p.Asp492Tyr)	ATIC (D492Y)	Single nucleotide variant (missense variant)	AICA-ribosiduria	GUncertain significance

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