ClinVar for Gene (Select 9950) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281890	NM_005113.4(GOLGA5):c.2173C>G (p.His725Asp)	GOLGA5 (H725D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281888	NM_005113.4(GOLGA5):c.1852C>G (p.Gln618Glu)	GOLGA5 (Q618E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281887	NM_005113.4(GOLGA5):c.520A>C (p.Asn174His)	GOLGA5 (N174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281886	NM_005113.4(GOLGA5):c.1723A>G (p.Thr575Ala)	GOLGA5 (T575A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281885	NM_005113.4(GOLGA5):c.1100G>A (p.Ser367Asn)	GOLGA5 (S367N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281884	NM_005113.4(GOLGA5):c.767A>G (p.Gln256Arg)	GOLGA5 (Q256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281883	NM_005113.4(GOLGA5):c.330T>G (p.Phe110Leu)	GOLGA5 (F110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100817	NM_005113.4(GOLGA5):c.952C>T (p.Arg318Cys)	GOLGA5 (R318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100815	NM_005113.4(GOLGA5):c.506A>G (p.Lys169Arg)	GOLGA5 (K169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100814	NM_005113.4(GOLGA5):c.2158A>C (p.Thr720Pro)	GOLGA5 (T720P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100813	NM_005113.4(GOLGA5):c.1693G>A (p.Glu565Lys)	GOLGA5 (E565K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100812	NM_005113.4(GOLGA5):c.1483G>A (p.Glu495Lys)	GOLGA5 (E495K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100811	NM_005113.4(GOLGA5):c.1460G>T (p.Gly487Val)	GOLGA5 (G487V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100810	NM_005113.4(GOLGA5):c.1439A>T (p.Glu480Val)	GOLGA5 (E480V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100809	NM_005113.4(GOLGA5):c.1291T>C (p.Tyr431His)	GOLGA5 (Y431H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100808	NM_005113.4(GOLGA5):c.1183C>G (p.Leu395Val)	GOLGA5 (L395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100807	NM_005113.4(GOLGA5):c.1157G>A (p.Arg386His)	GOLGA5 (R386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689141	NM_005113.4(GOLGA5):c.772+1G>T	GOLGA5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2684745	GRCh37/hg19 14q32.12(chr14:93241006-93633849)x3	CHGA, GOLGA5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2610253	NM_005113.4(GOLGA5):c.331G>T (p.Val111Leu)	GOLGA5 (V111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592200	NM_005113.4(GOLGA5):c.314G>C (p.Arg105Thr)	GOLGA5 (R105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2542868	NM_005113.4(GOLGA5):c.160T>G (p.Tyr54Asp)	GOLGA5 (Y54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541675	NM_005113.4(GOLGA5):c.1355G>C (p.Gly452Ala)	GOLGA5 (G452A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539716	NM_005113.4(GOLGA5):c.1937A>G (p.Asn646Ser)	GOLGA5 (N646S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539111	NM_005113.4(GOLGA5):c.103A>G (p.Ile35Val)	GOLGA5 (I35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527450	NM_005113.4(GOLGA5):c.724A>C (p.Asn242His)	GOLGA5 (N242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525059	NM_005113.4(GOLGA5):c.953G>A (p.Arg318His)	GOLGA5 (R318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513891	NM_005113.4(GOLGA5):c.1769G>A (p.Arg590Gln)	GOLGA5 (R590Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508596	NM_005113.4(GOLGA5):c.1001A>G (p.Gln334Arg)	GOLGA5 (Q334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493011	NM_005113.4(GOLGA5):c.655G>A (p.Gly219Ser)	GOLGA5 (G219S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483382	NM_005113.4(GOLGA5):c.2086A>T (p.Ile696Leu)	GOLGA5 (I696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478251	NM_005113.4(GOLGA5):c.1852C>A (p.Gln618Lys)	GOLGA5 (Q618K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471664	NM_005113.4(GOLGA5):c.119C>T (p.Thr40Ile)	GOLGA5 (T40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461925	NM_005113.4(GOLGA5):c.1046C>G (p.Thr349Ser)	GOLGA5 (T349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 2393806	NM_005113.4(GOLGA5):c.1133G>A (p.Arg378His)	GOLGA5 (R378H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386555	NM_005113.4(GOLGA5):c.521A>G (p.Asn174Ser)	GOLGA5 (N174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374979	NM_005113.4(GOLGA5):c.1994A>G (p.Asn665Ser)	GOLGA5 (N665S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361430	NM_005113.4(GOLGA5):c.165G>C (p.Gln55His)	GOLGA5 (Q55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359351	NM_005113.4(GOLGA5):c.1236G>T (p.Gln412His)	GOLGA5 (Q412H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314609	NM_005113.4(GOLGA5):c.2050A>C (p.Ser684Arg)	GOLGA5 (S684R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283683	NM_005113.4(GOLGA5):c.2109A>G (p.Ile703Met)	GOLGA5 (I703M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266240	NM_005113.4(GOLGA5):c.632A>C (p.His211Pro)	GOLGA5 (H211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259879	NM_005113.4(GOLGA5):c.603T>A (p.Asn201Lys)	GOLGA5 (N201K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242332	NM_005113.4(GOLGA5):c.1129G>A (p.Ala377Thr)	GOLGA5 (A377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 787720	NM_005113.4(GOLGA5):c.1120G>A (p.Glu374Lys)	GOLGA5 (E374K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441942	GRCh37/hg19 14q32.12(chr14:93001577-93605662)x3	CHGA, GOLGA5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58335	GRCh38/hg38 14q32.12(chr14:92694709-92905919)x3	GOLGA5, LGMN +9 more	Copy number gain	See cases	GUncertain significance
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 70