GOLGA6L6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151938	GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	APBA2, ARHGAP11A +264 more	Copy number gain	See cases	GPathogenic
Select item 58532	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4	SNORD115-26, SNORD115-27 +201 more	Copy number gain	See cases	GPathogenic
Select item 58531	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3	APBA2, ATP10A +203 more	Copy number gain	See cases	GPathogenic
Select item 58536	GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3	ATP10A, ATP10A-DT +188 more	Copy number gain	See cases	GPathogenic
Select item 58539	GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3	ATP10A, ATP10A-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 58569	GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3	APBA2, ARHGAP11B +254 more	Copy number gain	See cases	GPathogenic
Select item 58568	GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3	APBA2, ATP10A +219 more	Copy number gain	See cases	GPathogenic
Select item 59369	GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3	ATP10A, ATP10A-DT +195 more	Copy number gain	See cases	GPathogenic
Select item 146937	GRCh38/hg38 15q11.1-11.2(chr15:20188973-22301831)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 146982	GRCh38/hg38 15q11.1-11.2(chr15:20203060-20643838)x1	GOLGA6L6	Copy number loss	See cases	GBenign
Select item 154905	GRCh38/hg38 15q11.1-11.2(chr15:20217862-22308242)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147132	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22301831)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147090	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22121581)x1	FAM30C, GOLGA6L6 +19 more	Copy number loss	See cases	GBenign
Select item 147074	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22308242)x1	OR4M2B, OR4N4 +23 more	Copy number loss	See cases	GBenign
Select item 147162	GRCh38/hg38 15q11.1-11.2(chr15:20227627-22173882)x1	GOLGA6L6, FAM30C +19 more	Copy number loss	See cases	GBenign
Select item 147061	GRCh38/hg38 15q11.1-11.2(chr15:20227627-22308242)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 147233	GRCh38/hg38 15q11.1-11.2(chr15:20257350-22308242)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147184	GRCh38/hg38 15q11.1-11.2(chr15:20286893-22290649)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 146951	GRCh38/hg38 15q11.1-11.2(chr15:20286894-22056657)x1	FAM30C, GOLGA6L6 +16 more	Copy number loss	See cases	GBenign
Select item 147047	GRCh38/hg38 15q11.1-11.2(chr15:20370423-21997369)x1	FAM30C, GOLGA6L6 +16 more	Copy number loss	See cases	GBenign
Select item 147148	GRCh38/hg38 15q11.1-11.2(chr15:20399345-21976567)x1	FAM30C, GOLGA6L6 +15 more	Copy number loss	See cases	GBenign
Select item 147114	GRCh38/hg38 15q11.1-11.2(chr15:20399345-20672649)x1	GOLGA6L6, LOC130056704	Copy number loss	See cases	GBenign
Select item 146978	GRCh38/hg38 15q11.1-11.2(chr15:20419199-22308242)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 147837	GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3	APBA2, ATP10A +218 more	Copy number gain	See cases	GPathogenic
Select item 3100880	NM_001145004.2(GOLGA6L6):c.2139G>T (p.Arg713Ser)	GOLGA6L6 (R713S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477633	NM_001145004.2(GOLGA6L6):c.2102G>A (p.Arg701Gln)	GOLGA6L6 (R701Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100879	NM_001145004.2(GOLGA6L6):c.2101C>T (p.Arg701Trp)	GOLGA6L6 (R701W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100878	NM_001145004.2(GOLGA6L6):c.2069A>G (p.Glu690Gly)	GOLGA6L6 (E690G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100877	NM_001145004.2(GOLGA6L6):c.2067G>T (p.Gln689His)	GOLGA6L6 (Q689H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524276	NM_001145004.2(GOLGA6L6):c.2050G>A (p.Glu684Lys)	GOLGA6L6 (E684K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441140	NM_001145004.2(GOLGA6L6):c.2038T>G (p.Trp680Gly)	GOLGA6L6 (W680G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 441139	NM_001145004.2(GOLGA6L6):c.2015T>C (p.Met672Thr)	GOLGA6L6 (M672T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3281907	NM_001145004.2(GOLGA6L6):c.1984G>A (p.Glu662Lys)	GOLGA6L6 (E662K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100876	NM_001145004.2(GOLGA6L6):c.1976G>A (p.Arg659Gln)	GOLGA6L6 (R659Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523922	NM_001145004.2(GOLGA6L6):c.1963G>A (p.Glu655Lys)	GOLGA6L6 (E655K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390664	NM_001145004.2(GOLGA6L6):c.1952T>C (p.Ile651Thr)	GOLGA6L6 (I651T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296577	NM_001145004.2(GOLGA6L6):c.1938G>C (p.Arg646Ser)	GOLGA6L6 (R646S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347612	NM_001145004.2(GOLGA6L6):c.1928C>T (p.Thr643Met)	GOLGA6L6 (T643M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406403	NM_001145004.2(GOLGA6L6):c.1912C>A (p.Gln638Lys)	GOLGA6L6 (Q638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281916	NM_001145004.2(GOLGA6L6):c.1909A>T (p.Met637Leu)	GOLGA6L6 (M637L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281909	NM_001145004.2(GOLGA6L6):c.1870G>T (p.Gly624Trp)	GOLGA6L6 (G624W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210527	NM_001145004.2(GOLGA6L6):c.1869G>T (p.Met623Ile)	GOLGA6L6 (M623I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402906	NM_001145004.2(GOLGA6L6):c.1847C>T (p.Thr616Met)	GOLGA6L6 (T616M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2215181	NM_001145004.2(GOLGA6L6):c.1783A>T (p.Ile595Leu)	GOLGA6L6 (I595L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100875	NM_001145004.2(GOLGA6L6):c.1759A>G (p.Lys587Glu)	GOLGA6L6 (K587E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470327	NM_001145004.2(GOLGA6L6):c.1753G>A (p.Glu585Lys)	GOLGA6L6 (E585K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100874	NM_001145004.2(GOLGA6L6):c.1747A>G (p.Lys583Glu)	GOLGA6L6 (K583E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100873	NM_001145004.2(GOLGA6L6):c.1744T>G (p.Trp582Gly)	GOLGA6L6 (W582G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324077	NM_001145004.2(GOLGA6L6):c.1721G>A (p.Arg574Lys)	GOLGA6L6 (R574K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100872	NM_001145004.2(GOLGA6L6):c.1714G>A (p.Glu572Lys)	GOLGA6L6 (E572K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281906	NM_001145004.2(GOLGA6L6):c.1705G>A (p.Glu569Lys)	GOLGA6L6 (E569K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275714	NM_001145004.2(GOLGA6L6):c.1684A>G (p.Arg562Gly)	GOLGA6L6 (R562G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281915	NM_001145004.2(GOLGA6L6):c.1677G>T (p.Lys559Asn)	GOLGA6L6 (K559N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341077	NM_001145004.2(GOLGA6L6):c.1597A>T (p.Ile533Leu)	GOLGA6L6 (I533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487461	NM_001145004.2(GOLGA6L6):c.1592A>G (p.Glu531Gly)	GOLGA6L6 (E531G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281834	NM_001145004.2(GOLGA6L6):c.1589A>T (p.Gln530Leu)	GOLGA6L6 (Q530L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274654	NM_001145004.2(GOLGA6L6):c.1572A>T (p.Glu524Asp)	GOLGA6L6 (E524D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369650	NM_001145004.2(GOLGA6L6):c.1552G>A (p.Glu518Lys)	GOLGA6L6 (E518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100871	NM_001145004.2(GOLGA6L6):c.1544G>A (p.Arg515Gln)	GOLGA6L6 (R515Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281914	NM_001145004.2(GOLGA6L6):c.1529A>G (p.Gln510Arg)	GOLGA6L6 (Q510R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600637	NM_001145004.2(GOLGA6L6):c.1485G>C (p.Glu495Asp)	GOLGA6L6 (E495D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210270	NM_001145004.2(GOLGA6L6):c.1479A>G (p.Ile493Met)	GOLGA6L6 (I493M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232692	NM_001145004.2(GOLGA6L6):c.1456G>T (p.Val486Leu)	GOLGA6L6 (V486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214671	NM_001145004.2(GOLGA6L6):c.1456G>A (p.Val486Met)	GOLGA6L6 (V486M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262620	NM_001145004.2(GOLGA6L6):c.1446G>T (p.Gln482His)	GOLGA6L6 (Q482H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281919	NM_001145004.2(GOLGA6L6):c.1445A>C (p.Gln482Pro)	GOLGA6L6 (Q482P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100870	NM_001145004.2(GOLGA6L6):c.1445A>G (p.Gln482Arg)	GOLGA6L6 (Q482R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281911	NM_001145004.2(GOLGA6L6):c.1442A>G (p.Lys481Arg)	GOLGA6L6 (K481R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100869	NM_001145004.2(GOLGA6L6):c.1439G>T (p.Arg480Leu)	GOLGA6L6 (R480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507998	NM_001145004.2(GOLGA6L6):c.1439G>A (p.Arg480Gln)	GOLGA6L6 (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100868	NM_001145004.2(GOLGA6L6):c.1438C>T (p.Arg480Trp)	GOLGA6L6 (R480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281912	NM_001145004.2(GOLGA6L6):c.1437A>G (p.Ile479Met)	GOLGA6L6 (I479M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281910	NM_001145004.2(GOLGA6L6):c.1433A>G (p.Lys478Arg)	GOLGA6L6 (K478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390361	NM_001145004.2(GOLGA6L6):c.1430A>G (p.Glu477Gly)	GOLGA6L6 (E477G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100867	NM_001145004.2(GOLGA6L6):c.1428G>C (p.Glu476Asp)	GOLGA6L6 (E476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354270	NM_001145004.2(GOLGA6L6):c.1422G>C (p.Glu474Asp)	GOLGA6L6 (E474D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281913	NM_001145004.2(GOLGA6L6):c.1421A>T (p.Glu474Val)	GOLGA6L6 (E474V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565743	NM_001145004.2(GOLGA6L6):c.1421A>G (p.Glu474Gly)	GOLGA6L6 (E474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298045	NM_001145004.2(GOLGA6L6):c.1399A>G (p.Arg467Gly)	GOLGA6L6 (R467G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281917	NM_001145004.2(GOLGA6L6):c.1396T>G (p.Trp466Gly)	GOLGA6L6 (W466G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100866	NM_001145004.2(GOLGA6L6):c.1395A>G (p.Ile465Met)	GOLGA6L6 (I465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100865	NM_001145004.2(GOLGA6L6):c.1388A>G (p.Glu463Gly)	GOLGA6L6 (E463G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644936	NM_001145004.2(GOLGA6L6):c.1376_1380del (p.Ile459fs)	GOLGA6L6 (I459fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2644937	NM_001145004.2(GOLGA6L6):c.1377A>G (p.Ile459Met)	GOLGA6L6 (I459M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2560377	NM_001145004.2(GOLGA6L6):c.1375A>G (p.Ile459Val)	GOLGA6L6 (I459V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352390	NM_001145004.2(GOLGA6L6):c.1371G>T (p.Glu457Asp)	GOLGA6L6 (E457D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317104	NM_001145004.2(GOLGA6L6):c.1367A>C (p.Glu456Ala)	GOLGA6L6 (E456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100864	NM_001145004.2(GOLGA6L6):c.1354A>G (p.Met452Val)	GOLGA6L6 (M452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100863	NM_001145004.2(GOLGA6L6):c.1351G>A (p.Glu451Lys)	GOLGA6L6 (E451K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215336	NM_001145004.2(GOLGA6L6):c.1262G>A (p.Arg421Gln)	GOLGA6L6 (R421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347209	NM_001145004.2(GOLGA6L6):c.1261C>T (p.Arg421Trp)	GOLGA6L6 (R421W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313390	NM_001145004.2(GOLGA6L6):c.1019G>A (p.Arg340Gln)	GOLGA6L6 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343872	NM_001145004.2(GOLGA6L6):c.955C>T (p.Arg319Trp)	GOLGA6L6 (R319W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346040	NM_001145004.2(GOLGA6L6):c.758C>T (p.Ala253Val)	GOLGA6L6 (A253V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291149	NM_001145004.2(GOLGA6L6):c.517G>A (p.Ala173Thr)	GOLGA6L6 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492429	NM_001145004.2(GOLGA6L6):c.461G>A (p.Arg154His)	GOLGA6L6 (R154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100881	NM_001145004.2(GOLGA6L6):c.397G>T (p.Ala133Ser)	GOLGA6L6 (A133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392084	NM_001145004.2(GOLGA6L6):c.281C>T (p.Ser94Leu)	GOLGA6L6 (S94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327581	NM_001145004.2(GOLGA6L6):c.272G>A (p.Gly91Asp)	GOLGA6L6 (G91D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349912	NM_001145004.2(GOLGA6L6):c.233T>C (p.Ile78Thr)	GOLGA6L6 (I78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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