UGP2[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 2265685	NM_006759.4(UGP2):c.7A>G (p.Arg3Gly)	UGP2 (R3G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1879471	NM_006759.4(UGP2):c.15A>G (p.Val5=)	UGP2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2572348	NM_006759.4(UGP2):c.19+4A>G	UGP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 805980	NM_006759.4(UGP2):c.34A>G (p.Met12Val)	UGP2 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	D-6618 +2 more	GPathogenic/Likely pathogenic
Select item 2600156	NM_006759.4(UGP2):c.74G>A (p.Arg25Gln)	UGP2 (R14Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2651000	NM_006759.4(UGP2):c.135A>C (p.Ser45=)	UGP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3186088	NM_006759.4(UGP2):c.154A>C (p.Lys52Gln)	UGP2 (K41Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1711501	NM_006759.4(UGP2):c.188A>G (p.His63Arg)	UGP2 (H52R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1684237	NM_006759.4(UGP2):c.255+44G>A	UGP2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 83	GBenign
Select item 58871	GRCh38/hg38 2p15-14(chr2:63867188-64294742)x3	LINC00309, LOC100507006 +21 more	Copy number gain	See cases	GUncertain significance
Select item 2301813	NM_006759.4(UGP2):c.341A>G (p.Asn114Ser)	UGP2 (N103S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3186089	NM_006759.4(UGP2):c.421C>G (p.Leu141Val)	UGP2 (L141V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377888	NM_006759.4(UGP2):c.427G>C (p.Val143Leu)	UGP2 (V143L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186090	NM_006759.4(UGP2):c.536A>G (p.Asn179Ser)	UGP2 (N179S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186092	NM_006759.4(UGP2):c.545G>T (p.Arg182Leu)	UGP2 (R62L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059622	NM_006759.4(UGP2):c.576-5dup	UGP2	Duplication (intron variant)	UGP2-related disorder	GLikely benign
Select item 3054653	NM_006759.4(UGP2):c.785A>G (p.Tyr262Cys)	UGP2 (Y142C +2 more)	Single nucleotide variant (missense variant)	UGP2-related disorder	GLikely benign
Select item 2393038	NM_006759.4(UGP2):c.806A>G (p.Asn269Ser)	UGP2 (N269S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372678	NM_006759.4(UGP2):c.850A>G (p.Asn284Asp)	UGP2 (N164D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461552	NM_006759.4(UGP2):c.860G>A (p.Arg287His)	UGP2 (R276H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068684	NM_006759.4(UGP2):c.1089G>A (p.Leu363=)	UGP2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 83	GBenign
Select item 2595673	NM_006759.4(UGP2):c.1226A>G (p.Tyr409Cys)	UGP2 (Y398C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054084	NM_006759.4(UGP2):c.1299C>T (p.Gly433=)	UGP2	Single nucleotide variant (synonymous variant)	UGP2-related disorder	GLikely benign
Select item 2213260	NM_006759.4(UGP2):c.1307T>C (p.Phe436Ser)	UGP2 (F436S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651001	NM_006759.4(UGP2):c.1311G>A (p.Thr437=)	UGP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223149	NM_006759.4(UGP2):c.1314+3A>G	UGP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2572349	NM_006759.4(UGP2):c.1333A>T (p.Arg445Ter)	UGP2 (R325* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3186087	NM_006759.4(UGP2):c.1385_1387del (p.Gly462del)	UGP2 (G342del +2 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2295290	NM_006759.4(UGP2):c.1460A>T (p.Asp487Val)	UGP2 (D367V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526796	GRCh37/hg19 2p14(chr2:64103740-64802404)	AFTPH, LGALSL +3 more	Copy number gain	not specified	GUncertain significance
Select item 1062698	NC_000002.11:g.(?_62991401)_(64335444_?)dup	WDPCP, MDH1 +5 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 687379	GRCh37/hg19 2p15-14(chr2:63536353-65793944)x1	ACTR2, AFTPH +11 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 44