GOLGA8A[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 150413	GRCh38/hg38 15q14(chr15:34334908-34671997)x1	GOLGA8A, GOLGA8B +28 more	Copy number loss	See cases	GLikely benign
Select item 149673	GRCh38/hg38 15q14(chr15:34334908-34549221)x1	GOLGA8A, GOLGA8B +21 more	Copy number loss	See cases	GLikely benign
Select item 149672	GRCh38/hg38 15q14(chr15:34334908-34549221)x3	GOLGA8A, GOLGA8B +21 more	Copy number gain	See cases	GLikely benign
Select item 2495021	NM_181077.5(GOLGA8A):c.1778T>C (p.Phe593Ser)	GOLGA8A (F592S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460868	NM_181077.5(GOLGA8A):c.1775G>T (p.Cys592Phe)	GOLGA8A (C591F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2262441	NM_181077.5(GOLGA8A):c.1765T>C (p.Cys589Arg)	GOLGA8A (C589R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233755	NM_181077.5(GOLGA8A):c.1710G>C (p.Gln570His)	GOLGA8A (Q569H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768693	NM_181077.5(GOLGA8A):c.1702G>A (p.Val568Ile)	GOLGA8A (V568I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2407718	NM_181077.5(GOLGA8A):c.1699C>G (p.Pro567Ala)	GOLGA8A (P566A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345424	NM_181077.5(GOLGA8A):c.1688C>G (p.Pro563Arg)	GOLGA8A (P562R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378661	NM_181077.5(GOLGA8A):c.1687C>T (p.Pro563Ser)	GOLGA8A (P562S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645150	NM_181077.5(GOLGA8A):c.1623G>T (p.Ala541=)	GOLGA8A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2508574	NM_181077.5(GOLGA8A):c.1601A>G (p.Lys534Arg)	GOLGA8A (K534R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533092	NM_181077.5(GOLGA8A):c.1558A>G (p.Ser520Gly)	GOLGA8A (S519G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359267	NM_181077.5(GOLGA8A):c.1507G>A (p.Glu503Lys)	GOLGA8A (E502K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280053	NM_181077.5(GOLGA8A):c.1487C>T (p.Ala496Val)	GOLGA8A (A495V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391094	NM_181077.5(GOLGA8A):c.1402T>G (p.Ser468Ala)	GOLGA8A (S467A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2402501	NM_181077.5(GOLGA8A):c.297G>T (p.Lys99Asn)	GOLGA8A (K99N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211586	NM_181077.5(GOLGA8A):c.209C>T (p.Pro70Leu)	GOLGA8A (P70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409401	NM_181077.5(GOLGA8A):c.199C>T (p.Arg67Cys)	GOLGA8A (R67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596464	NM_181077.5(GOLGA8A):c.193C>T (p.His65Tyr)	GOLGA8A (H65Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362221	NM_181077.5(GOLGA8A):c.173C>T (p.Ser58Phe)	GOLGA8A (S58F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151047	GRCh38/hg38 15q14(chr15:34402939-34671997)x3	LOC129390684, GOLGA8A +12 more	Copy number gain	See cases	GLikely benign
Select item 147048	GRCh38/hg38 15q14(chr15:34402995-34549215)x1	GOLGA8A, GOLGA8B +5 more	Copy number loss	See cases	GBenign
Select item 146965	GRCh38/hg38 15q14(chr15:34402995-34549216)x1	GOLGA8A, GOLGA8B +5 more	Copy number loss	See cases	GBenign
Select item 146993	GRCh38/hg38 15q14(chr15:34432012-34464800)x3	GOLGA8A, LOC130056755 +1 more	Copy number gain	See cases	GBenign
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2427227	NC_000015.9:g.(?_34526072)_(35087019_?)del	GOLGA8A, GJD2 +6 more	Deletion	not provided	GPathogenic
Select item 2425304	NC_000015.9:g.(?_34526082)_(35087009_?)del	ACTC1, GJD2 +6 more	Deletion	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic

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Items: 55