2776[Gene ID] - ClinVar

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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

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Items: 94