930[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 492

<< First< Prev

Page of 5

	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	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +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	LOC125146439, LOC125146440 +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	ALDOA, APOBR +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	LOC130058739, LOC130058740 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 146463	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3	APOBR, ATP2A1 +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 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 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 148434	GRCh38/hg38 16p11.2(chr16:28850210-29032639)x1	ATP2A1, ATP2A1-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 32783	GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1	ATP2A1, ATP2A1-AS1 +28 more	Copy number loss	See cases	GPathogenic
Select item 150196	GRCh38/hg38 16p11.2(chr16:28850245-29019750)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 318795	NM_001770.6(CD19):c.-16G>A	CD19	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 2175598	NM_001770.6(CD19):c.13C>T (p.Arg5Cys)	CD19 (R5C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1954715	NM_001770.6(CD19):c.14G>A (p.Arg5His)	CD19 (R5H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 318796	NM_001770.6(CD19):c.17T>G (p.Leu6Arg)	CD19 (L6R)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 2439814	NM_001770.6(CD19):c.24C>A (p.Phe8Leu)	CD19 (F8L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 2048504	NM_001770.6(CD19):c.30C>T (p.Leu10=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1494140	NM_001770.6(CD19):c.31C>T (p.Leu11Phe)	CD19 (L11F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 799856	NM_001770.6(CD19):c.42C>T (p.Thr14=)	CD19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 973629	NM_001770.6(CD19):c.47T>C (p.Met16Thr)	CD19 (M16T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3	GLikely benign
Select item 1906813	NM_001770.6(CD19):c.60C>T (p.Pro20=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 885125	NM_001770.6(CD19):c.61G>C (p.Glu21Gln)	CD19 (E21Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2966852	NM_001770.6(CD19):c.69T>G (p.Pro23=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012595	NM_001770.6(CD19):c.88+14G>A	CD19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1404796	NM_001770.6(CD19):c.89-12_89-3dup	CD19	Duplication (intron variant)	not provided	GLikely benign
Select item 1899929	NM_001770.6(CD19):c.94G>A (p.Asp32Asn)	CD19 (D32N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1624512	NM_001770.6(CD19):c.99C>T (p.Asn33=)	CD19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1936780	NM_001770.6(CD19):c.103G>A (p.Val35Met)	CD19 (V35M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1582199	NM_001770.6(CD19):c.108G>A (p.Leu36=)	CD19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2182006	NM_001770.6(CD19):c.119A>G (p.Lys40Arg)	CD19 (K40R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1401146	NM_001770.6(CD19):c.128C>A (p.Ser43Ter)	CD19 (S43*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2482905	NM_001770.6(CD19):c.130G>T (p.Asp44Tyr)	CD19 (D44Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3140367	NM_001770.6(CD19):c.140C>T (p.Thr47Ile)	CD19 (T47I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1943026	NM_001770.6(CD19):c.140C>A (p.Thr47Asn)	CD19 (T47N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 723603	NM_001770.6(CD19):c.147G>A (p.Gln49=)	CD19	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 254195	NM_001770.6(CD19):c.156G>C (p.Trp52Cys)	CD19 (W52C)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency, common variable, 3	GPathogenic
Select item 1982326	NM_001770.6(CD19):c.160C>T (p.Arg54Trp)	CD19 (R54W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1632954	NM_001770.6(CD19):c.165G>A (p.Glu55=)	CD19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3020873	NM_001770.6(CD19):c.168C>T (p.Ser56=)	CD19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1013096	NM_001770.6(CD19):c.170C>T (p.Pro57Leu)	CD19 (P57L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 318797	NM_001770.6(CD19):c.171G>A (p.Pro57=)	CD19	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency, common variable, 3 +1 more	GConflicting classifications of pathogenicity
Select item 827973	NM_001770.6(CD19):c.178C>T (p.Pro60Ser)	CD19 (P60S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3 +1 more	GUncertain significance
Select item 2041811	NM_001770.6(CD19):c.179C>G (p.Pro60Arg)	CD19 (P60R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2001502	NM_001770.6(CD19):c.190C>T (p.Leu64Phe)	CD19 (L64F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2212201	NM_001770.6(CD19):c.194G>A (p.Ser65Asn)	CD19 (S65N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1955202	NM_001770.6(CD19):c.209G>A (p.Gly70Asp)	CD19 (G70D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1033867	NM_001770.6(CD19):c.228G>T (p.Arg76Ser)	CD19 (R76S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2972805	NM_001770.6(CD19):c.231C>A (p.Pro77=)	CD19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1020999	NM_001770.6(CD19):c.233T>C (p.Leu78Pro)	CD19 (L78P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2646356	NM_001770.6(CD19):c.237C>T (p.Ala79=)	CD19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2549340	NM_001770.6(CD19):c.239T>C (p.Ile80Thr)	CD19 (I80T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 886036	NM_001770.6(CD19):c.246T>C (p.Leu82=)	CD19	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 721238	NM_001770.6(CD19):c.258C>T (p.Asn86=)	CD19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928657	NM_001770.6(CD19):c.264T>G (p.Ser88=)	CD19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

<< First< Prev

Page of 5