4424[HGNC] - ClinVar

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Items: 73

	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 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 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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 3281836	NM_002077.4(GOLGA1):c.2299T>C (p.Ser767Pro)	GOLGA1 (S767P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561165	NM_002077.4(GOLGA1):c.2287C>T (p.Arg763Trp)	GOLGA1 (R763W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381554	NM_002077.4(GOLGA1):c.2255A>G (p.Lys752Arg)	GOLGA1 (K752R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250542	NM_002077.4(GOLGA1):c.2237G>C (p.Gly746Ala)	GOLGA1 (G746A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281831	NM_002077.4(GOLGA1):c.2187G>C (p.Glu729Asp)	GOLGA1 (E729D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100715	NM_002077.4(GOLGA1):c.2035C>T (p.Pro679Ser)	GOLGA1 (P679S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100713	NM_002077.4(GOLGA1):c.2021T>C (p.Met674Thr)	GOLGA1 (M674T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281827	NM_002077.4(GOLGA1):c.2020A>T (p.Met674Leu)	GOLGA1 (M674L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373782	NM_002077.4(GOLGA1):c.2000G>A (p.Arg667Gln)	GOLGA1 (R667Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100712	NM_002077.4(GOLGA1):c.1863G>C (p.Lys621Asn)	GOLGA1 (K621N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775277	NM_002077.4(GOLGA1):c.1806T>G (p.Thr602=)	GOLGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3281835	NM_002077.4(GOLGA1):c.1757C>T (p.Ser586Leu)	GOLGA1 (S586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776450	NM_002077.4(GOLGA1):c.1734C>T (p.Ala578=)	GOLGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2299000	NM_002077.4(GOLGA1):c.1648G>C (p.Glu550Gln)	GOLGA1 (E550Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281826	NM_002077.4(GOLGA1):c.1644G>C (p.Glu548Asp)	GOLGA1 (E548D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100711	NM_002077.4(GOLGA1):c.1641C>T (p.Ala547=)	GOLGA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2600979	NM_002077.4(GOLGA1):c.1607A>G (p.Asn536Ser)	GOLGA1 (N536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100710	NM_002077.4(GOLGA1):c.1555G>A (p.Glu519Lys)	GOLGA1 (E519K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281830	NM_002077.4(GOLGA1):c.1553C>A (p.Thr518Asn)	GOLGA1 (T518N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475567	NM_002077.4(GOLGA1):c.1552A>G (p.Thr518Ala)	GOLGA1 (T518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365705	NM_002077.4(GOLGA1):c.1544G>A (p.Arg515Gln)	GOLGA1 (R515Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 722134	NM_002077.4(GOLGA1):c.1497+8C>G	GOLGA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3100709	NM_002077.4(GOLGA1):c.1415G>T (p.Trp472Leu)	GOLGA1 (W472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100708	NM_002077.4(GOLGA1):c.1406A>C (p.Lys469Thr)	GOLGA1 (K469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331227	NM_002077.4(GOLGA1):c.1366C>T (p.Arg456Cys)	GOLGA1 (R456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290720	NM_002077.4(GOLGA1):c.1287C>A (p.Asp429Glu)	GOLGA1 (D429E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281828	NM_002077.4(GOLGA1):c.1241C>T (p.Ala414Val)	GOLGA1 (A414V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291521	NM_002077.4(GOLGA1):c.1163C>T (p.Ala388Val)	GOLGA1 (A388V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100707	NM_002077.4(GOLGA1):c.1144A>G (p.Thr382Ala)	GOLGA1 (T382A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281832	NM_002077.4(GOLGA1):c.1132G>A (p.Ala378Thr)	GOLGA1 (A378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376552	NM_002077.4(GOLGA1):c.1036G>A (p.Ala346Thr)	GOLGA1 (A346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591573	NM_002077.4(GOLGA1):c.1019C>T (p.Ala340Val)	GOLGA1 (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383931	NM_002077.4(GOLGA1):c.916A>G (p.Arg306Gly)	GOLGA1 (R306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207870	NM_002077.4(GOLGA1):c.844G>T (p.Val282Phe)	GOLGA1 (V282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281834	NM_002077.4(GOLGA1):c.796C>A (p.Gln266Lys)	GOLGA1 (Q266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244283	NM_002077.4(GOLGA1):c.764A>C (p.Glu255Ala)	GOLGA1 (E255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269907	NM_002077.4(GOLGA1):c.640G>A (p.Glu214Lys)	GOLGA1 (E214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100718	NM_002077.4(GOLGA1):c.559A>C (p.Met187Leu)	GOLGA1 (M187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490560	NM_002077.4(GOLGA1):c.475C>G (p.Gln159Glu)	GOLGA1 (Q159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100716	NM_002077.4(GOLGA1):c.305C>T (p.Ser102Phe)	GOLGA1 (S102F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281833	NM_002077.4(GOLGA1):c.241G>T (p.Val81Phe)	GOLGA1 (V81F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346640	NM_002077.4(GOLGA1):c.220C>A (p.Leu74Ile)	GOLGA1 (L74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100714	NM_002077.4(GOLGA1):c.202C>T (p.Arg68Trp)	GOLGA1 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520128	NM_002077.4(GOLGA1):c.191A>G (p.Asn64Ser)	GOLGA1 (N64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279744	NM_002077.4(GOLGA1):c.118G>A (p.Asp40Asn)	GOLGA1 (D40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100717	NM_002077.4(GOLGA1):c.31G>A (p.Glu11Lys)	GOLGA1 (E11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063097	GRCh37/hg19 9q33.3(chr9:127471268-127701091)x3	ARPC5L, GOLGA1 +4 more	Copy number gain	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 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
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 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
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 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 563573	GRCh37/hg19 9q33.3(chr9:127640127-127719081)x1	GOLGA1, SCAI	Copy number loss	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 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 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: 73