7284[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058720, LOC130058721 +287 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	APOBR, AQP8 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 153260	GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3	APOBR, ATP2A1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 148782	GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1	ATP2A1, APOBR +70 more	Copy number loss	See cases	GPathogenic
Select item 545197	NC_000016.10:g.(?_28351819)_(29325073_?)del	APOBR, ATP2A1 +68 more	Deletion	Schizophrenia	GPathogenic
Select item 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	ALDOA, APOBR +179 more	Copy number gain	See cases	GPathogenic
Select item 150351	GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 152023	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1	APOBR, ATP2A1 +61 more	Copy number loss	See cases	GPathogenic
Select item 151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	LOC130058805, LOC130058806 +187 more	Copy number loss	See cases	GPathogenic
Select item 150642	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1	APOBR, ATP2A1 +66 more	Copy number loss	See cases	GPathogenic
Select item 148886	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1	APOBR, ATP2A1 +67 more	Copy number loss	See cases	GPathogenic
Select item 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 more	Copy number loss	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 148497	GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 154502	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3	APOBR, ATP2A1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	ALDOA, APOBR +171 more	Copy number gain	See cases	GPathogenic
Select item 146471	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1	APOBR, ATP2A1 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 146463	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3	LOC108281183, LOC112340392 +62 more	Copy number gain	See cases	GUncertain significance
Select item 34150	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	ALDOA, APOBR +171 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 59641	GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1	ATP2A1, ATP2A1-AS1 +48 more	Copy number loss	See cases	GPathogenic
Select item 145658	GRCh38/hg38 16p11.2(chr16:28584316-29019738)x3	ATP2A1, ATP2A1-AS1 +44 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160911	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59293	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59294	GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3	ATP2A1, ATP2A1-AS1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59295	GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3	ATP2A1, ATP2A1-AS1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 1679691	Single allele	LOC130058744, LOC130058745 +44 more	Deletion	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 155233	GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 153218	GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 59643	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1	ATP2A1, ATP2A1-AS1 +36 more	Copy number loss	See cases	GPathogenic
Select item 59642	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3	ATP2A1, ATP2A1-AS1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 148525	GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 155463	GRCh38/hg38 16p11.2(chr16:28807707-29039870)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 151536	GRCh38/hg38 16p11.2(chr16:28809422-29033455)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1184309	NC_000016.10:g.28812342_29035950dup	LOC130058735, ATP2A1 +34 more	Duplication	not provided	GUncertain significance
Select item 149412	GRCh38/hg38 16p11.2(chr16:28813473-29033455)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 149239	GRCh38/hg38 16p11.2(chr16:28813473-29032639)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 148483	GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1	ATP2A1, ATP2A1-AS1 +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 145955	GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3	ATP2A1, ATP2A1-AS1 +34 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59296	GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1326293	GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3	NFATC2IP-AS1, RABEP2 +36 more	Copy number gain	not provided	Gnot provided
Select item 583588	NC_000016.10:g.(?_28824392)_(28904205_?)del	ATP2A1, ATP2A1-AS1 +13 more	Deletion	Brody myopathy	GPathogenic
Select item 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 59644	GRCh38/hg38 16p11.2(chr16:28826129-29030797)x1	ATP2A1, ATP2A1-AS1 +33 more	Copy number loss	See cases	GPathogenic
Select item 149864	GRCh38/hg38 16p11.2(chr16:28832433-29019750)x1	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 149863	GRCh38/hg38 16p11.2(chr16:28832433-29019750)x3	ATP2A1, ATP2A1-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 318732	NM_003321.5(TUFM):c.*561A>T	TUFM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318733	NM_003321.5(TUFM):c.*517G>C	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318734	NM_003321.5(TUFM):c.*445G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 886766	NM_003321.5(TUFM):c.*433T>C	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318735	NM_003321.5(TUFM):c.*398G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318736	NM_003321.5(TUFM):c.*370T>G	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318737	NM_003321.5(TUFM):c.*349G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318738	NM_003321.5(TUFM):c.*300T>G	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4 +1 more	GBenign
Select item 886767	NM_003321.5(TUFM):c.*270C>T	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 888045	NM_003321.5(TUFM):c.*229G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318739	NM_003321.5(TUFM):c.*149G>C	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318740	NM_003321.5(TUFM):c.*110A>G	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 888046	NM_003321.5(TUFM):c.*60T>G	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318741	NM_003321.5(TUFM):c.*37G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318742	NM_003321.5(TUFM):c.*24C>T	TUFM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 215315	NM_003321.5(TUFM):c.1364G>A (p.Gly455Asp)	TUFM (G455D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991916	NM_003321.5(TUFM):c.1358A>T (p.Lys453Ile)	TUFM (K425I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494542	NM_003321.5(TUFM):c.1347GAA[1] (p.Lys450del)	TUFM (K422del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 215314	NM_003321.5(TUFM):c.1348A>G (p.Lys450Glu)	TUFM (K450E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1383499	NM_003321.5(TUFM):c.1337C>A (p.Thr446Asn)	TUFM (T418N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943815	NM_003321.5(TUFM):c.1333A>G (p.Met445Val)	TUFM (M445V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176347	NM_003321.5(TUFM):c.1308C>T (p.Thr436=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215313	NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser)	TUFM (N431S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2990427	NM_003321.5(TUFM):c.1284A>C (p.Arg428=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1193332	NM_003321.5(TUFM):c.1271G>A (p.Arg424His)	TUFM (R396H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189960	NM_003321.5(TUFM):c.1270C>T (p.Arg424Cys)	TUFM (R424C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387146	NM_003321.5(TUFM):c.1242G>A (p.Arg414=)	TUFM	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1510613	NM_003321.5(TUFM):c.1241G>A (p.Arg414Gln)	TUFM (R414Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964107	NM_003321.5(TUFM):c.1230C>T (p.Asn410=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510574	NM_003321.5(TUFM):c.1229A>G (p.Asn410Ser)	TUFM (N382S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 792170	NM_003321.5(TUFM):c.1215G>A (p.Glu405=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744854	NM_003321.5(TUFM):c.1209C>T (p.Pro403=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215312	NM_003321.5(TUFM):c.1196A>G (p.Glu399Gly)	TUFM (E399G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 318743	NM_003321.5(TUFM):c.1195-3T>C	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GConflicting classifications of pathogenicity
Select item 759877	NM_003321.5(TUFM):c.1195-10C>G	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195329	NM_003321.5(TUFM):c.1195-26G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59684	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x1	ATP2A1, ATP2A1-AS1 +31 more	Copy number loss	See cases	GPathogenic
Select item 59683	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3	ATP2A1, ATP2A1-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 667506	NM_003321.5(TUFM):c.1194+288T>C	TUFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1951990	NM_003321.5(TUFM):c.1194+20T>G	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570982	NM_003321.5(TUFM):c.1194+17G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013238	NM_003321.5(TUFM):c.1191_1192del (p.Lys398fs)	TUFM (K370fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2413661	NM_003321.5(TUFM):c.1126C>T (p.His376Tyr)	TUFM (H348Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151238	NM_003321.5(TUFM):c.1122G>A (p.Val374=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215309	NM_003321.5(TUFM):c.1120G>A (p.Val374Met)	TUFM (V374M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2267456	NM_003321.5(TUFM):c.1099G>C (p.Gly367Arg)	TUFM (G339R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1635737	NM_003321.5(TUFM):c.1074+19G>A	MIR4721, TUFM	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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