4668[geneid] - ClinVar - NCBI

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	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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC125446244, LOC130067573 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 901974	NM_000262.3(NAGA):c.*1930G>A	NAGA, WBP2NL	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely benign
Select item 341885	NM_000262.3(NAGA):c.*1929C>T	NAGA, WBP2NL	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 901975	NM_000262.3(NAGA):c.*1862C>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 341886	NM_000262.3(NAGA):c.*1814C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341888	NM_000262.3(NAGA):c.1788_1789del	NAGA	Deletion (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341887	NM_000262.3(NAGA):c.*1789del	NAGA	Deletion (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 902876	NM_000262.3(NAGA):c.*1724C>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341889	NM_000262.3(NAGA):c.*1696C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 900325	NM_000262.3(NAGA):c.*1555C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341890	NM_000262.3(NAGA):c.*1501C>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 900326	NM_000262.3(NAGA):c.*1484A>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341891	NM_000262.3(NAGA):c.*1333T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 900327	NM_000262.3(NAGA):c.*1311T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely benign
Select item 341892	NM_000262.3(NAGA):c.*1299C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341893	NM_000262.3(NAGA):c.*1252T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 901483	NM_000262.3(NAGA):c.*1103T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341894	NM_000262.3(NAGA):c.*1090G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341895	NM_000262.3(NAGA):c.*1035G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341896	NM_000262.3(NAGA):c.*926C>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 902053	NM_000262.3(NAGA):c.*730T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 902054	NM_000262.3(NAGA):c.*572G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341897	NM_000262.3(NAGA):c.*555C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely benign
Select item 341898	NM_000262.3(NAGA):c.*268G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341899	NM_000262.3(NAGA):c.*176C>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 900385	NM_000262.3(NAGA):c.*170G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 341900	NM_000262.3(NAGA):c.*161T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more	GBenign/Likely benign
Select item 341901	NM_000262.3(NAGA):c.*155A>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341902	NM_000262.3(NAGA):c.*143C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 900386	NM_000262.3(NAGA):c.*107G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 900446	NM_000262.3(NAGA):c.*55C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 341903	NM_000262.3(NAGA):c.*12A>C	NAGA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 632391	NM_000262.3(NAGA):c.1235G>C (p.Ter412Ser)	NAGA	Single nucleotide variant (stop lost)	NAGA-Related Disorders	GUncertain significance
Select item 2907459	NM_000262.3(NAGA):c.1233G>A (p.Gln411=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 1016714	NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)	NAGA (S409fs)	Insertion (frameshift variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 576897	NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr)	NAGA (S409T)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 719610	NM_000262.3(NAGA):c.1209C>T (p.Ile403=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2154788	NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr)	NAGA (I403T)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 2097158	NM_000262.3(NAGA):c.1197C>T (p.Tyr399=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2892602	NM_000262.3(NAGA):c.1182G>A (p.Gly394=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2044617	NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser)	NAGA (N391S)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 1504233	NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr)	NAGA (N391T)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 717761	NM_000262.3(NAGA):c.1146T>C (p.Asp382=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GLikely benign
Select item 566550	NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln)	NAGA (R381Q)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 2147414	NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter)	NAGA (R381*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 218436	NM_000262.3(NAGA):c.1132A>G (p.Ser378Gly)	NAGA (S378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1369299	NM_000262.3(NAGA):c.1111G>A (p.Val371Ile)	NAGA (V371I)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 1624840	NM_000262.3(NAGA):c.1110C>T (p.Asp370=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2829701	NM_000262.3(NAGA):c.1104C>T (p.Ala368=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2717943	NM_000262.3(NAGA):c.1102-7A>G	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2960333	NM_000262.3(NAGA):c.1102-8C>T	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2829342	NM_000262.3(NAGA):c.1102-9C>T	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2829708	NM_000262.3(NAGA):c.1102-10C>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 1661200	NM_000262.3(NAGA):c.1102-14C>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2864729	NM_000262.3(NAGA):c.1102-18T>C	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 1226704	NM_000262.3(NAGA):c.1102-44C>A	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706861	NM_000262.3(NAGA):c.1102-55_1102-54dup	NAGA	Duplication (intron variant)	not provided	GLikely benign
Select item 1286567	NM_000262.3(NAGA):c.1102-61dup	NAGA	Duplication (intron variant)	not provided	GBenign
Select item 1248849	NM_000262.3(NAGA):c.1102-56G>C	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242193	NM_000262.3(NAGA):c.1101+238C>G	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206955	NM_000262.3(NAGA):c.1101+144C>G	NAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221971	NM_000262.3(NAGA):c.1101+54G>C	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3017099	NM_000262.3(NAGA):c.1101+11G>C	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2762151	NM_000262.3(NAGA):c.1101+11G>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2912172	NM_000262.3(NAGA):c.1101+10C>T	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2733471	NM_000262.3(NAGA):c.1101+10C>G	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2716426	NM_000262.3(NAGA):c.1098T>C (p.Tyr366=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 667287	NM_000262.3(NAGA):c.1097_1098del (p.Ile365_Tyr366insTer)	NAGA	Microsatellite (nonsense)	not specified	GUncertain significance
Select item 3173496	NM_000262.3(NAGA):c.1095A>G (p.Ile365Met)	NAGA (I365M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2911909	NM_000262.3(NAGA):c.1089T>G (p.Ser363=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 1382047	NM_000262.3(NAGA):c.1085G>A (p.Gly362Glu)	NAGA (G362E)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 2434025	NM_000262.3(NAGA):c.1084G>A (p.Gly362Arg)	NAGA (G362R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001704	NM_000262.3(NAGA):c.1083C>A (p.Thr361=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2778912	NM_000262.3(NAGA):c.1083C>T (p.Thr361=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 1942758	NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser)	NAGA (G356S)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 2725305	NM_000262.3(NAGA):c.1047T>G (p.Tyr349Ter)	NAGA (Y349*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2484673	NM_000262.3(NAGA):c.1046A>T (p.Tyr349Phe)	NAGA (Y349F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1945428	NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn)	NAGA (D346N)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 2722882	NM_000262.3(NAGA):c.1035C>T (p.Thr345=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2697961	NM_000262.3(NAGA):c.1029C>A (p.Cys343Ter)	NAGA (C343*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 341904	NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser)	NAGA (L338S)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 2078695	NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr)	NAGA (A337T)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 2172805	NM_000262.3(NAGA):c.1008C>T (p.Ser336=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 341905	NM_000262.3(NAGA):c.993G>T (p.Leu331=)	NAGA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 18166	NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)	NAGA (R329Q)	Single nucleotide variant (missense variant)	NAGA-Related Disorders	GUncertain significance
Select item 18163	NM_000262.3(NAGA):c.985C>T (p.Arg329Trp)	NAGA (R329W)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2	GPathogenic
Select item 596276	NM_000262.3(NAGA):c.983T>C (p.Met328Thr)	NAGA (M328T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 18162	NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	NAGA (E325K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2901029	NM_000262.3(NAGA):c.972C>T (p.Ile324=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2769604	NM_000262.3(NAGA):c.968_969del (p.Leu323fs)	NAGA (L323fs)	Microsatellite (frameshift variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2866987	NM_000262.3(NAGA):c.958-6G>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2905143	NM_000262.3(NAGA):c.958-7T>C	NAGA	Single nucleotide variant (intron variant)	NAGA-related condition +1 more	GLikely benign
Select item 2760077	NM_000262.3(NAGA):c.958-8G>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign

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