2776[geneid] - ClinVar

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

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 151910	GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1	CEP78, GNA14 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 1654539	NM_002072.5(GNAQ):c.1029C>T (p.Ala343=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743756	NM_002072.5(GNAQ):c.1017T>C (p.Phe339=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281762	NM_002072.5(GNAQ):c.946C>G (p.Leu316Val)	GNAQ (L316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397617	NM_002072.5(GNAQ):c.897G>C (p.Gln299His)	GNAQ (Q299H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733734	NM_002072.5(GNAQ):c.890-5G>A	GNAQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2290556	NM_002072.5(GNAQ):c.862C>A (p.Leu288Ile)	GNAQ (L288I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1592446	NM_002072.5(GNAQ):c.765T>C (p.Phe255=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058149	NM_002072.5(GNAQ):c.736-3dup	GNAQ	Duplication (intron variant)	GNAQ-related disorder	GLikely benign
Select item 770953	NM_002072.5(GNAQ):c.736-18_736-17dup	GNAQ	Duplication (intron variant)	not provided	GBenign
Select item 768309	NM_002072.5(GNAQ):c.736-18dup	GNAQ	Duplication (intron variant)	not provided	GBenign
Select item 3057817	NM_002072.5(GNAQ):c.736-5T>C	GNAQ	Single nucleotide variant (intron variant)	GNAQ-related disorder	GLikely benign
Select item 3040162	NM_002072.5(GNAQ):c.736-6_736-5del	GNAQ	Deletion (intron variant)	GNAQ-related disorder	GLikely benign
Select item 776427	NM_002072.5(GNAQ):c.736-5del	GNAQ	Deletion (intron variant)	not provided	GBenign
Select item 1286804	NM_002072.5(GNAQ):c.735+241G>C	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234387	NM_002072.5(GNAQ):c.735+34T>C	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2689138	NM_002072.5(GNAQ):c.735+30A>G	GNAQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3257926	NM_002072.5(GNAQ):c.735+1G>A	GNAQ	Single nucleotide variant (splice donor variant)	Neoplasm	OUncertain significance
Select item 1305988	NM_002072.5(GNAQ):c.735+1G>T	GNAQ	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 724634	NM_002072.5(GNAQ):c.705T>C (p.Tyr235=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1172602	NM_002072.5(GNAQ):c.627A>T (p.Gln209His)	GNAQ (Q209H)	Single nucleotide variant (missense variant)	Familial multiple nevi flammei +1 more	GPathogenic
Select item 1172601	NM_002072.5(GNAQ):c.627A>C (p.Gln209His)	GNAQ (Q209H)	Single nucleotide variant (missense variant)	Familial multiple nevi flammei +1 more	GPathogenic
Select item 376311	NM_002072.5(GNAQ):c.625_626delinsTT (p.Gln209Leu)	GNAQ (Q209L)	Indel (missense variant)	Uveal melanoma	GLikely pathogenic
Select item 375957	NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro)	GNAQ (Q209P)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375956	NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)	GNAQ (Q209R)	Single nucleotide variant (missense variant)	Sturge-Weber syndrome	GPathogenic
Select item 375955	NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	GNAQ (Q209L)	Single nucleotide variant (missense variant)	Sturge-Weber syndrome	GPathogenic
Select item 1279961	NM_002072.5(GNAQ):c.606-304C>T	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2636352	NM_002072.5(GNAQ):c.548G>C (p.Arg183Pro)	GNAQ (R183P)	Single nucleotide variant (missense variant)	GNAQ-related disorder	GUncertain significance
Select item 1285390	NM_002072.5(GNAQ):c.548G>T (p.Arg183Leu)	GNAQ (R183L)	Single nucleotide variant (missense variant)	Segmental undergrowth associated with capillary malformation	GPathogenic
Select item 50853	NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	GNAQ (R183Q)	Single nucleotide variant (missense variant)	Capillary malformation +7 more	GPathogenic/Likely pathogenic OOncogenic
Select item 2664271	NM_002072.5(GNAQ):c.547C>G (p.Arg183Gly)	GNAQ (R183G)	Single nucleotide variant (missense variant)	Familial multiple nevi flammei	GPathogenic
Select item 738718	NM_002072.5(GNAQ):c.525G>A (p.Thr175=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540366	NM_002072.5(GNAQ):c.456A>C (p.Gln152His)	GNAQ (Q152H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1540811	NM_002072.5(GNAQ):c.402T>C (p.Ser134=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736460	NM_002072.5(GNAQ):c.388G>A (p.Asp130Asn)	GNAQ (D130N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 747842	NM_002072.5(GNAQ):c.330A>G (p.Ala110=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988851	NM_002072.5(GNAQ):c.322-13T>C	GNAQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241938	NM_002072.5(GNAQ):c.322-116G>T	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 144974	GRCh38/hg38 9q21.2(chr9:77828133-77845836)x1	GNAQ	Copy number loss	See cases	GBenign
Select item 2659271	NM_002072.5(GNAQ):c.267C>T (p.Ala89=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625940	NM_002072.5(GNAQ):c.255G>C (p.Thr85=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2328117	NM_002072.5(GNAQ):c.230A>G (p.Lys77Arg)	GNAQ (K77R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738574	NM_002072.5(GNAQ):c.162G>A (p.Thr54=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1691370	NM_002072.5(GNAQ):c.143G>T (p.Gly48Val)	GNAQ (G48V)	Single nucleotide variant (missense variant)	Sturge-Weber syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1282970	NM_002072.5(GNAQ):c.136+181CA[19]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 1282592	NM_002072.5(GNAQ):c.136+181CA[17]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 1261320	NM_002072.5(GNAQ):c.136+181CA[18]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 1270845	NM_002072.5(GNAQ):c.136+181CA[15]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 1232832	NM_002072.5(GNAQ):c.136+181CA[12]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 764049	NM_002072.5(GNAQ):c.136+8C>T	GNAQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2580797	NM_002072.5(GNAQ):c.81_90dup (p.Arg31fs)	GNAQ (R31fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1229612	NM_002072.5(GNAQ):c.-382G>A	GNAQ	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1260835	NM_002072.5(GNAQ):c.-387G>A	GNAQ	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808958	GRCh37/hg19 9q21.2(chr9:80582026-80948266)x3	CEP78, GNAQ +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527527	GRCh37/hg19 9q21.2(chr9:80322373-80644551)	GNAQ	Copy number loss	not specified	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1456972	NC_000009.11:g.(?_79792621)_(80944002_?)del	CEP78, GNA14 +3 more	Deletion	Neu-Laxova syndrome 2	GPathogenic
Select item 979264	GRCh37/hg19 9q21.2(chr9:80410512-80877566)x3	GNAQ, CEP78	Copy number gain	not provided	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687864	GRCh37/hg19 9q21.13-21.31(chr9:78672613-83349616)x1	CEP78, FOXB2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 563676	GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1	ALDH1A1, ANXA1 +24 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 94