ClinVar for Gene (Select 10054) - 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 3330484	NM_005499.3(UBA2):c.1234C>G (p.Gln412Glu)	UBA2 (Q316E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330483	NM_005499.3(UBA2):c.131T>C (p.Ile44Thr)	LOC130064191, UBA2 (I44T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330482	NM_005499.3(UBA2):c.1402A>C (p.Ile468Leu)	UBA2 (I372L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257742	NM_005499.3(UBA2):c.18del (p.Leu7fs)	LOC130064190, UBA2 (L7fs)	Deletion (5 prime UTR variant +1 more)	ACCES syndrome	GPathogenic
Select item 3254931	NM_005499.3(UBA2):c.472T>C (p.Cys158Arg)	UBA2 (C158R +1 more)	Single nucleotide variant (missense variant)	ACCES syndrome	GUncertain significance
Select item 3238810	NM_005499.3(UBA2):c.1834A>T (p.Arg612Trp)	UBA2 (R516W +1 more)	Single nucleotide variant (missense variant)	ACCES syndrome	GUncertain significance
Select item 3185374	NM_005499.3(UBA2):c.787A>G (p.Ile263Val)	UBA2 (I263V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064270	NM_005499.3(UBA2):c.460-2A>G	UBA2	Single nucleotide variant (splice acceptor variant)	ACCES syndrome	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3024531	NM_005499.3(UBA2):c.649+1G>A	UBA2	Single nucleotide variant (splice donor variant)	ACCES syndrome	GPathogenic
Select item 2672153	NM_005499.3(UBA2):c.175A>G (p.Arg59Gly)	UBA2 (R59G)	Single nucleotide variant (5 prime UTR variant +1 more)	ACCES syndrome	GUncertain significance
Select item 2662966	NM_005499.3(UBA2):c.920T>C (p.Leu307Pro)	UBA2 (L211P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584538	NM_005499.3(UBA2):c.1173_1174dup (p.Ala392fs)	UBA2 (A296fs +1 more)	Duplication (frameshift variant)	UBA2-related disorder	GLikely pathogenic
Select item 2576680	NM_005499.3(UBA2):c.1370A>G (p.His457Arg)	UBA2 (H361R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571037	NM_005499.3(UBA2):c.1542C>G (p.Gly514=)	UBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571036	NM_005499.3(UBA2):c.1541_1542delinsAG (p.Gly514Glu)	UBA2 (G418E +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2552926	NM_005499.3(UBA2):c.1378A>T (p.Thr460Ser)	UBA2 (T460S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544851	NM_005499.3(UBA2):c.743G>T (p.Gly248Val)	UBA2 (G248V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524099	NM_005499.3(UBA2):c.1401G>C (p.Lys467Asn)	UBA2 (K371N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521911	NM_005499.3(UBA2):c.820C>T (p.Arg274Trp)	UBA2 (R274W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516307	NM_005499.3(UBA2):c.52_58del (p.Gly18fs)	LOC130064190, UBA2 (G18fs)	Microsatellite (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2504461	NM_005499.3(UBA2):c.941A>G (p.Asp314Gly)	UBA2 (D218G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490274	NM_005499.3(UBA2):c.1159A>G (p.Ile387Val)	UBA2 (I387V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485147	NM_005499.3(UBA2):c.1541G>A (p.Gly514Asp)	UBA2 (G418D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472715	NM_005499.3(UBA2):c.141T>G (p.Ile47Met)	UBA2 (I47M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2405620	NM_005499.3(UBA2):c.361G>A (p.Ala121Thr)	UBA2 (A25T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397106	NM_005499.3(UBA2):c.876A>C (p.Glu292Asp)	UBA2 (E292D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382749	NM_005499.3(UBA2):c.887C>T (p.Ala296Val)	UBA2 (A200V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346623	NM_005499.3(UBA2):c.11C>G (p.Ser4Trp)	LOC130064190, UBA2 (S4W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339120	NM_005499.3(UBA2):c.31C>A (p.Leu11Met)	LOC130064190, UBA2 (L11M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337663	NM_005499.3(UBA2):c.40G>A (p.Ala14Thr)	LOC130064190, UBA2 (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313857	NM_005499.3(UBA2):c.500A>G (p.Gln167Arg)	UBA2 (Q167R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306873	NM_005499.3(UBA2):c.1690A>G (p.Lys564Glu)	UBA2 (K564E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305075	NM_005499.3(UBA2):c.1375G>A (p.Val459Met)	UBA2 (V363M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298456	NM_005499.3(UBA2):c.995A>G (p.His332Arg)	UBA2 (H332R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292029	NM_005499.3(UBA2):c.294C>T (p.Asn98=)	UBA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2285922	NM_005499.3(UBA2):c.880A>C (p.Thr294Pro)	UBA2 (T294P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801368	NM_005499.3(UBA2):c.1118del (p.Arg373fs)	UBA2 (R373fs)	Deletion (frameshift variant)	ACCES syndrome	GPathogenic
Select item 1700977	NM_005499.3(UBA2):c.512C>T (p.Pro171Leu)	UBA2 (P171L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696429	NM_005499.3(UBA2):c.612del (p.Glu205fs)	UBA2 (E205fs)	Deletion (frameshift variant)	ACCES syndrome	GPathogenic
Select item 1696428	NM_005499.3(UBA2):c.327del (p.Phe109fs)	UBA2 (F109fs)	Deletion (frameshift variant)	ACCES syndrome	GPathogenic
Select item 1696427	NM_005499.3(UBA2):c.1324dup (p.Tyr442fs)	UBA2 (Y442fs)	Duplication (frameshift variant)	ACCES syndrome	GPathogenic
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1338833	GRCh38/hg38 19q13.11(chr19:34469754-34644767)	LOC130064193, SCGB2B2 +2 more	Copy number loss	UBA2-related disorder	GPathogenic
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1307730	NM_005499.3(UBA2):c.223-1G>A	UBA2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1303828	NM_005499.3(UBA2):c.464T>A (p.Val155Glu)	UBA2 (V155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244516	NM_005499.3(UBA2):c.872-14A>T	UBA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 985243	NM_005499.3(UBA2):c.1A>G (p.Met1Val)	LOC130064190, UBA2 (M1V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 979178	NM_005499.3(UBA2):c.1447G>A (p.Glu483Lys)	UBA2 (E483K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 979177	NM_005499.3(UBA2):c.167A>C (p.Asn56Thr)	UBA2 (N56T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 979176	NM_005499.3(UBA2):c.1186G>C (p.Gly396Arg)	UBA2 (G396R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 979175	NM_005499.3(UBA2):c.71G>T (p.Gly24Val)	LOC130064190, UBA2 (G24V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 978773	NM_005499.3(UBA2):c.364C>G (p.Arg122Gly)	UBA2 (R122G)	Single nucleotide variant (missense variant)	Ectrodactyly	GUncertain significance
Select item 977797	NM_005499.3(UBA2):c.800T>A (p.Leu267Ter)	UBA2 (L267*)	Single nucleotide variant (nonsense)	Chromosome 19q13.11 deletion syndrome, distal	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 654989	NM_005499.3(UBA2):c.364C>T (p.Arg122Ter)	UBA2 (R122*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 524055	NM_005499.3(UBA2):c.52_58dup (p.Val20fs)	LOC130064190, UBA2 (V20fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 523936	NM_005499.3(UBA2):c.1376dup (p.Thr460fs)	UBA2 (T460fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 521193	NM_005499.3(UBA2):c.816_817del (p.Trp273fs)	UBA2 (W273fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	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