ClinVar for Gene (Select 9630) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281755	NM_004297.4(GNA14):c.469C>G (p.Leu157Val)	GNA14 (L157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281754	NM_004297.4(GNA14):c.728G>C (p.Arg243Pro)	GNA14 (R243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281753	NM_004297.4(GNA14):c.436G>C (p.Glu146Gln)	GNA14 (E146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281751	NM_004297.4(GNA14):c.778T>C (p.Phe260Leu)	GNA14 (F260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281750	NM_004297.4(GNA14):c.727C>T (p.Arg243Cys)	GNA14 (R243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281749	NM_004297.4(GNA14):c.227A>G (p.Tyr76Cys)	GNA14 (Y76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100553	NM_004297.4(GNA14):c.730A>G (p.Met244Val)	GNA14 (M244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100552	NM_004297.4(GNA14):c.728G>A (p.Arg243His)	GNA14 (R243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100551	NM_004297.4(GNA14):c.505G>A (p.Val169Met)	GNA14 (V169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100550	NM_004297.4(GNA14):c.25G>A (p.Ala9Thr)	GNA14 (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100549	NM_004297.4(GNA14):c.258G>A (p.Met86Ile)	GNA14 (M86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684581	GRCh37/hg19 9q21.2(chr9:79724132-80086283)x3	GNA14, VPS13A	Copy number gain	not provided	GUncertain significance
Select item 2672219	NM_004297.4(GNA14):c.356T>C (p.Met119Thr)	GNA14 (M119T)	Single nucleotide variant (missense variant)	Tufted angioma of skin	GUncertain significance
Select item 2672184	NM_004297.4(GNA14):c.215C>T (p.Thr72Met)	GNA14 (T72M)	Single nucleotide variant (missense variant)	Tufted angioma of skin	GUncertain significance
Select item 2620778	NM_004297.4(GNA14):c.623A>G (p.Glu208Gly)	GNA14 (E208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554513	NM_004297.4(GNA14):c.232A>G (p.Asn78Asp)	GNA14 (N78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485559	NM_004297.4(GNA14):c.44A>C (p.Gln15Pro)	GNA14 (Q15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483381	NM_004297.4(GNA14):c.1051G>A (p.Glu351Lys)	GNA14 (E351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482179	NM_004297.4(GNA14):c.340G>A (p.Val114Met)	GNA14 (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463873	NM_004297.4(GNA14):c.628C>T (p.Arg210Trp)	GNA14 (R210W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446463	NM_004297.4(GNA14):c.817G>C (p.Asp273His)	GNA14 (D273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381455	NM_004297.4(GNA14):c.71A>G (p.Gln24Arg)	GNA14 (Q24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328437	NM_004297.4(GNA14):c.400G>A (p.Asp134Asn)	GNA14 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321691	NM_004297.4(GNA14):c.88A>G (p.Lys30Glu)	GNA14 (K30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287612	NM_004297.4(GNA14):c.845C>G (p.Ser282Cys)	GNA14 (S282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231106	NM_004297.4(GNA14):c.307A>G (p.Lys103Glu)	GNA14 (K103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220177	NM_004297.4(GNA14):c.233A>G (p.Asn78Ser)	GNA14 (N78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211846	NM_004297.4(GNA14):c.484C>T (p.Arg162Cys)	GNA14 (R162C)	Single nucleotide variant (missense variant)	not specified	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 1456972	NC_000009.11:g.(?_79792621)_(80944002_?)del	CEP78, GNA14 +3 more	Deletion	Neu-Laxova syndrome 2	GPathogenic
Select item 778433	NM_004297.4(GNA14):c.195C>T (p.Asp65=)	GNA14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775090	NM_004297.4(GNA14):c.549C>T (p.Thr183=)	GNA14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718482	NM_004297.4(GNA14):c.97C>T (p.Arg33Cys)	GNA14 (R33C)	Single nucleotide variant (missense variant)	not provided	GBenign
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 623423	NM_004297.4(GNA14):c.678del (p.Ala227fs)	GNA14 (A227fs)	Deletion (frameshift variant)	High myopia	GUncertain significance
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 548667	NM_004297.4(GNA14):c.614A>T (p.Gln205Leu)	GNA14 (Q205L)	Single nucleotide variant (missense variant)	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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +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 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 151910	GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1	CEP78, GNA14 +10 more	Copy number loss	See cases	GLikely pathogenic
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 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 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +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 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	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 4689	NC_000009.12:g.77390734_77428010del	GNA14, VPS13A	Deletion	Chorea-acanthocytosis	GPathogenic

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Links from Gene

Items: 73