GOLGA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +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	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 2612221	NM_001366244.2(GOLGA2):c.3007C>T (p.Arg1003Cys)	GOLGA2 (R941C +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591656	NM_001366244.2(GOLGA2):c.2998C>G (p.Pro1000Ala)	GOLGA2 (P973A +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219289	NM_001366244.2(GOLGA2):c.2998C>T (p.Pro1000Ser)	GOLGA2 (P849S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659529	NM_001366244.2(GOLGA2):c.2997C>T (p.Asn999=)	GOLGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486080	NM_001366244.2(GOLGA2):c.2984G>A (p.Arg995His)	GOLGA2 (R837H +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 810427	NM_001366244.2(GOLGA2):c.2861C>T (p.Ala954Val)	GOLGA2 (A796V +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100736	NM_001366244.2(GOLGA2):c.2845C>G (p.Gln949Glu)	GOLGA2 (Q791E +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321927	NM_001366244.2(GOLGA2):c.2842C>T (p.Pro948Ser)	GOLGA2 (P797S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555737	NM_001366244.2(GOLGA2):c.2800G>A (p.Ala934Thr)	GOLGA2 (A783T +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485992	NM_001366244.2(GOLGA2):c.2779C>T (p.His927Tyr)	GOLGA2 (H769Y +11 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478993	NM_001366244.2(GOLGA2):c.2719G>A (p.Val907Met)	GOLGA2 (V876M +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2177033	NM_001366244.2(GOLGA2):c.2718+2T>C	GOLGA2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2340271	NM_001366244.2(GOLGA2):c.2633A>G (p.Gln878Arg)	GOLGA2 (Q811R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100734	NM_001366244.2(GOLGA2):c.2476C>T (p.Arg826Trp)	GOLGA2 (R764W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100733	NM_001366244.2(GOLGA2):c.2440G>A (p.Gly814Arg)	GOLGA2 (G760R +11 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232992	NM_001366244.2(GOLGA2):c.2437C>T (p.Pro813Ser)	GOLGA2 (P773S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209928	NM_001366244.2(GOLGA2):c.2410A>G (p.Lys804Glu)	GOLGA2 (K737E +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485124	NM_001366244.2(GOLGA2):c.2393T>C (p.Leu798Pro)	GOLGA2 (L640P +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100731	NM_001366244.2(GOLGA2):c.2377C>T (p.Arg793Trp)	GOLGA2 (R753W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100730	NM_001366244.2(GOLGA2):c.2345G>C (p.Arg782Pro)	GOLGA2 (R624P +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774203	NM_001366244.2(GOLGA2):c.2345G>A (p.Arg782His)	GOLGA2 (R624H +11 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1878639	NM_001366244.2(GOLGA2):c.2332C>T (p.Gln778Ter)	GOLGA2 (Q620* +11 more)	Single nucleotide variant (nonsense)	Neuromuscular disease	GLikely pathogenic
Select item 2463804	NM_001366244.2(GOLGA2):c.2323G>A (p.Glu775Lys)	GOLGA2 (E624K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100729	NM_001366244.2(GOLGA2):c.2293G>T (p.Ala765Ser)	GOLGA2 (A725S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100728	NM_001366244.2(GOLGA2):c.2278C>T (p.Arg760Trp)	GOLGA2 (R602W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263656	NM_001366244.2(GOLGA2):c.2207AGG[6] (p.Glu742del)	GOLGA2 (E584del +11 more)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2242729	NM_001366244.2(GOLGA2):c.2221G>A (p.Glu741Lys)	GOLGA2 (E708K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659530	NM_001366244.2(GOLGA2):c.2137C>T (p.Arg713Trp)	GOLGA2 (R555W +11 more)	Single nucleotide variant (missense variant)	GOLGA2-related disorder +1 more	GLikely benign
Select item 2659531	NM_001366244.2(GOLGA2):c.2019C>T (p.Leu673=)	GOLGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2290263	NM_001366244.2(GOLGA2):c.2011A>T (p.Thr671Ser)	GOLGA2 (T604S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261417	NM_001366244.2(GOLGA2):c.1970C>T (p.Thr657Ile)	GOLGA2 (T499I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607372	NM_001366244.2(GOLGA2):c.1933C>T (p.His645Tyr)	GOLGA2 (H639Y +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617108	NM_001366244.2(GOLGA2):c.1930G>A (p.Gly644Arg)	GOLGA2 (G486R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385748	NM_001366244.2(GOLGA2):c.1897C>G (p.Gln633Glu)	GOLGA2 (Q482E +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100727	NM_001366244.2(GOLGA2):c.1855A>C (p.Ser619Arg)	GOLGA2 (S592R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100726	NM_001366244.2(GOLGA2):c.1805A>G (p.His602Arg)	GOLGA2 (H451R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709444	NM_001366244.2(GOLGA2):c.1726C>G (p.Leu576Val)	GOLGA2 (L418V +11 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3100725	NM_001366244.2(GOLGA2):c.1709G>A (p.Arg570Gln)	GOLGA2 (R503Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233401	NM_001366244.2(GOLGA2):c.1673_1675dup (p.Asp558_Arg559insHis)	GOLGA2	Duplication (inframe_insertion)	Developmental delay with hypotonia, myopathy, and brain abnormalities	GUncertain significance
Select item 2443816	NM_001366244.2(GOLGA2):c.1675_1676insACCG (p.Arg559fs)	GOLGA2 (R401fs +11 more)	Insertion (frameshift variant)	Developmental delay with hypotonia, myopathy, and brain abnormalities	GPathogenic
Select item 2659532	NM_001366244.2(GOLGA2):c.1671C>T (p.Asn557=)	GOLGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100724	NM_001366244.2(GOLGA2):c.1651A>G (p.Ile551Val)	GOLGA2 (I393V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659533	NM_001366244.2(GOLGA2):c.1614C>T (p.Ala538=)	GOLGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788065	NM_001366244.2(GOLGA2):c.1611G>A (p.Ala537=)	GOLGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100723	NM_001366244.2(GOLGA2):c.1607G>A (p.Arg536Gln)	GOLGA2 (R469Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2043422	NM_001366244.2(GOLGA2):c.1582G>T (p.Glu528Ter)	GOLGA2 (E370* +11 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2343351	NM_001366244.2(GOLGA2):c.1574G>A (p.Arg525Gln)	GOLGA2 (R492Q +11 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100721	NM_001366244.2(GOLGA2):c.1454C>T (p.Pro485Leu)	GOLGA2 (P418L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384495	NM_001366244.2(GOLGA2):c.1430C>T (p.Pro477Leu)	GOLGA2 (P450L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288118	NM_001366244.2(GOLGA2):c.1376T>G (p.Val459Gly)	GOLGA2 (V405G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509428	NM_001366244.2(GOLGA2):c.1373G>A (p.Arg458Gln)	GOLGA2 (R300Q +9 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280669	NM_001366244.2(GOLGA2):c.1372C>T (p.Arg458Trp)	GOLGA2 (R453W +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443815	NM_001366244.2(GOLGA2):c.1347_1350del (p.Glu450fs)	GOLGA2 (E292fs +9 more)	Microsatellite (frameshift variant)	Developmental delay with hypotonia, myopathy, and brain abnormalities	GPathogenic
Select item 2206128	NM_001366244.2(GOLGA2):c.1304G>A (p.Arg435Gln)	GOLGA2 (R277Q +9 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100720	NM_001366244.2(GOLGA2):c.1263T>G (p.Asp421Glu)	GOLGA2 (D276E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100719	NM_001366244.2(GOLGA2):c.1148G>T (p.Cys383Phe)	GOLGA2 (C225F +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281978	NM_001366244.2(GOLGA2):c.965C>T (p.Ala322Val)	GOLGA2 (A177V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258173	NM_001366244.2(GOLGA2):c.896T>C (p.Leu299Pro)	GOLGA2 (L237P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517751	NM_001366244.2(GOLGA2):c.890G>A (p.Arg297Gln)	GOLGA2 (R230Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100738	NM_001366244.2(GOLGA2):c.851G>A (p.Arg284His)	GOLGA2 (R222H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510721	NM_001366244.2(GOLGA2):c.850C>T (p.Arg284Cys)	GOLGA2 (R126C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100737	NM_001366244.2(GOLGA2):c.842T>C (p.Leu281Pro)	GOLGA2 (L214P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245559	NM_001366244.2(GOLGA2):c.827-12C>G	GOLGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659534	NM_001366244.2(GOLGA2):c.726G>A (p.Gln242=)	GOLGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144782	NM_001366244.2(GOLGA2):c.651_652del (p.Asn218fs)	GOLGA2 (N191fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2078580	NM_001366244.2(GOLGA2):c.615_618del (p.Lys205fs)	GOLGA2 (K143fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2324043	NM_001366244.2(GOLGA2):c.601T>C (p.Tyr201His)	GOLGA2 (Y201H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2157154	NM_001366244.2(GOLGA2):c.574C>T (p.Gln192Ter)	GOLGA2 (Q130* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2385020	NM_001366244.2(GOLGA2):c.536C>T (p.Ser179Leu)	GOLGA2 (S117L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257105	NM_001366244.2(GOLGA2):c.418A>G (p.Asn140Asp)	GOLGA2 (N113D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556162	NM_001366244.2(GOLGA2):c.362G>C (p.Gly121Ala)	GOLGA2 (G121A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300641	NM_001366244.2(GOLGA2):c.334G>A (p.Val112Met)	GOLGA2 (V85M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341600	NM_001366244.2(GOLGA2):c.316C>G (p.Gln106Glu)	GOLGA2 (Q106E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341590	NM_001366244.2(GOLGA2):c.314T>C (p.Leu105Pro)	GOLGA2 (L78P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366372	NM_001366244.2(GOLGA2):c.307G>C (p.Ala103Pro)	GOLGA2 (A76P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348923	NM_001366244.2(GOLGA2):c.302A>G (p.Asn101Ser)	GOLGA2 (N101S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100722	NM_001366244.2(GOLGA2):c.138G>T (p.Lys46Asn)	GOLGA2 (K46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241531	NM_001366244.2(GOLGA2):c.137A>G (p.Lys46Arg)	GOLGA2 (K46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100735	NM_001366244.2(GOLGA2):c.23C>T (p.Pro8Leu)	GOLGA2, SWI5 (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic

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