5568[geneid] - ClinVar

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

Search results

Items: 91

	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 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 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 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	LOC130001865, LOC130001866 +70 more	Copy number loss	See cases	GLikely pathogenic
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 59106	GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1	APBA1, BANCR +40 more	Copy number loss	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	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 155686	GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3	ABHD17B, APBA1 +79 more	Copy number gain	See cases	GLikely pathogenic
Select item 155100	GRCh38/hg38 9q21.11-21.12(chr9:68802194-69342807)x3	BANCR, ENTREP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151942	GRCh38/hg38 9q21.11(chr9:68991449-69164502)x3	FXN, LOC108510657 +11 more	Copy number gain	See cases	GUncertain significance
Select item 1269471	NM_002732.4(PRKACG):c.198_199insGC	PRKACG	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1251250	NM_002732.4(PRKACG):c.*197C>G	PRKACG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 711508	NM_002732.4(PRKACG):c.930G>A (p.Lys310=)	PRKACG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2393888	NM_002732.4(PRKACG):c.887A>G (p.Lys296Arg)	PRKACG (K296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488714	NM_002732.4(PRKACG):c.861C>G (p.Asn287Lys)	PRKACG (N287K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041111	NM_002732.4(PRKACG):c.856A>C (p.Arg286=)	PRKACG	Single nucleotide variant (synonymous variant)	PRKACG-related disorder	GLikely benign
Select item 2333343	NM_002732.4(PRKACG):c.812G>T (p.Arg271Leu)	PRKACG (R271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659237	NM_002732.4(PRKACG):c.808C>T (p.Leu270=)	PRKACG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1268030	NM_002732.4(PRKACG):c.802C>G (p.His268Asp)	PRKACG (H268D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3218716	NM_002732.4(PRKACG):c.796C>T (p.Leu266Phe)	PRKACG (L266F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779256	NM_002732.4(PRKACG):c.723C>T (p.Ala241=)	PRKACG	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2230448	NM_002732.4(PRKACG):c.713C>G (p.Pro238Arg)	PRKACG (P238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295700	NM_002732.4(PRKACG):c.706T>A (p.Phe236Ile)	PRKACG (F236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546509	NM_002732.4(PRKACG):c.700G>C (p.Val234Leu)	PRKACG (V234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467954	NM_002732.4(PRKACG):c.620C>T (p.Ala207Val)	PRKACG (A207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491291	NM_002732.4(PRKACG):c.497G>A (p.Arg166His)	PRKACG (R166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309938	NM_002732.4(PRKACG):c.461C>A (p.Ala154Asp)	PRKACG (A154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391312	NM_002732.4(PRKACG):c.449A>T (p.Gln150Leu)	PRKACG (Q150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436419	NM_002732.4(PRKACG):c.449A>G (p.Gln150Arg)	PRKACG (Q150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218715	NM_002732.4(PRKACG):c.414G>C (p.Arg138Ser)	PRKACG (R138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309937	NM_002732.4(PRKACG):c.406G>C (p.Val136Leu)	PRKACG (V136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357995	NM_002732.4(PRKACG):c.368A>G (p.Tyr123Cys)	PRKACG (Y123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601283	NM_002732.4(PRKACG):c.304C>T (p.Pro102Ser)	PRKACG (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044861	NM_002732.4(PRKACG):c.297C>T (p.Ile99=)	PRKACG	Single nucleotide variant (synonymous variant)	PRKACG-related disorder	GBenign
Select item 2468994	NM_002732.4(PRKACG):c.274G>A (p.Glu92Lys)	PRKACG (E92K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293310	NM_002732.4(PRKACG):c.269T>C (p.Leu90Pro)	PRKACG (L90P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054934	NM_002732.4(PRKACG):c.240G>A (p.Val80=)	PRKACG	Single nucleotide variant (synonymous variant)	PRKACG-related disorder	GLikely benign
Select item 1337516	NM_002732.4(PRKACG):c.239T>C (p.Val80Ala)	PRKACG (V80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162394	NM_002732.4(PRKACG):c.222C>G (p.Ile74Met)	PRKACG (I74M)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 19	GPathogenic
Select item 3218713	NM_002732.4(PRKACG):c.199G>A (p.Gly67Ser)	PRKACG (G67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464967	NM_002732.4(PRKACG):c.149T>A (p.Leu50Gln)	PRKACG (L50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406120	NM_002732.4(PRKACG):c.103G>A (p.Ala35Thr)	PRKACG (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388929	NM_002732.4(PRKACG):c.17C>A (p.Ala6Asp)	PRKACG (A6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039628	NM_002732.4(PRKACG):c.-10C>G	PRKACG	Single nucleotide variant (5 prime UTR variant)	PRKACG-related disorder	GLikely benign
Select item 1235559	NC_000009.12:g.69014125GGC[10]	PRKACG	Microsatellite	not provided	GBenign
Select item 1244748	NC_000009.12:g.69014201C>T	PRKACG	Single nucleotide variant	not provided	GBenign
Select item 1221053	NC_000009.12:g.69014368A>G	PRKACG	Single nucleotide variant	not provided	GBenign
Select item 3245327	NC_000009.11:g.(?_71627953)_(72006720_?)del	BANCR, ENTREP1 +3 more	Deletion	not provided	GPathogenic
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 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808288	GRCh37/hg19 9q21.11(chr9:71496157-71893866)x1	FXN, PIP5K1B +2 more	Copy number loss	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 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 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 688053	GRCh37/hg19 9q21.11(chr9:71415902-71996013)x3	BANCR, ENTREP1 +4 more	Copy number gain	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 687043	GRCh37/hg19 9q21.11(chr9:71221738-71660766)x3	FXN, PABIR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686833	GRCh37/hg19 9q21.11(chr9:71415902-71971195)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686082	GRCh37/hg19 9q21.11(chr9:71533382-71987060)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
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 685355	GRCh37/hg19 9q21.11(chr9:71458419-71776105)x3	FXN, PIP5K1B +2 more	Copy number gain	not provided	GUncertain significance
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 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
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 560069	Single allele	PRKACG, TJP2 +2 more	Duplication	not provided	GUncertain significance
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 443930	GRCh37/hg19 9q21.11(chr9:71515614-71991318)x3	BANCR, ENTREP1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443719	GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1	ABHD17B, ALDH1A1 +24 more	Copy number loss	See cases	GLikely pathogenic
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 442350	GRCh37/hg19 9q21.11(chr9:71395537-71967664)x3	BANCR, ENTREP1 +5 more	Copy number gain	See cases	GUncertain significance
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 253780	GRCh37/hg19 9q21.11(chr9:71395668-71944494)x3	TJP2, PABIR1 +5 more	Copy number gain	See cases	GUncertain significance
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: 91