29089[geneid] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 1721975	NM_014176.4(UBE2T):c.560T>C (p.Val187Ala)	UBE2T (V157A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110220	NM_014176.4(UBE2T):c.546G>A (p.Lys182=)	UBE2T	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337447	NM_014176.4(UBE2T):c.509G>T (p.Gly170Val)	UBE2T (G140V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2792683	NM_014176.4(UBE2T):c.469-9C>T	UBE2T	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972138	NM_014176.4(UBE2T):c.469-20del	UBE2T	Deletion (intron variant)	not provided	GBenign
Select item 1252839	NM_014176.4(UBE2T):c.469-203T>C	UBE2T	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 929629	NM_014176.4(UBE2T):c.110-280_468+264dup	UBE2T	Duplication (splice acceptor variant +1 more)	Fanconi anemia complementation group T	GPathogenic
Select item 929628	NM_014176.4(UBE2T):c.110-280_468+264del	UBE2T	Deletion (splice acceptor variant +1 more)	Fanconi anemia complementation group T	GPathogenic
Select item 3330584	NM_014176.4(UBE2T):c.404A>G (p.Asn135Ser)	UBE2T (N105S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336922	NM_014176.4(UBE2T):c.387C>G (p.Ser129=)	UBE2T	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1231134	NM_014176.4(UBE2T):c.385-11T>C	UBE2T	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2112603	NM_014176.4(UBE2T):c.384+19C>G	UBE2T	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872200	NM_014176.4(UBE2T):c.384+10C>T	UBE2T	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2190363	NM_014176.4(UBE2T):c.384+6del	UBE2T	Deletion (intron variant)	not provided	GUncertain significance
Select item 2172891	NM_014176.4(UBE2T):c.383T>C (p.Ile128Thr)	UBE2T (I128T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1076158	NM_014176.4(UBE2T):c.368dup (p.Leu124fs)	UBE2T (L124fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2860385	NM_014176.4(UBE2T):c.363T>C (p.Asp121=)	UBE2T	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129574	NM_014176.4(UBE2T):c.345G>C (p.Met115Ile)	UBE2T (M115I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875413	NM_014176.4(UBE2T):c.312C>T (p.Ile104=)	UBE2T	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767197	NM_014176.4(UBE2T):c.286-15del	UBE2T	Deletion (intron variant)	not provided	GLikely benign
Select item 2905496	NM_014176.4(UBE2T):c.213C>G (p.Leu71=)	UBE2T	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715218	NM_014176.4(UBE2T):c.201G>A (p.Gln67=)	UBE2T	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1235710	NM_014176.4(UBE2T):c.180-307A>T	UBE2T	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 199437	NM_014176.4(UBE2T):c.179+5G>A	UBE2T	Single nucleotide variant (intron variant)	Fanconi anemia complementation group T	GPathogenic
Select item 2151173	NM_014176.4(UBE2T):c.172C>G (p.Pro58Ala)	UBE2T (P28A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882001	NM_014176.4(UBE2T):c.110-1G>T	UBE2T	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2897326	NM_014176.4(UBE2T):c.110-9T>C	UBE2T	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868189	NM_014176.4(UBE2T):c.110-15_110-12del	UBE2T	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2780666	NM_014176.4(UBE2T):c.109+18_109+23del	UBE2T	Deletion (intron variant)	not provided	GLikely benign
Select item 2056932	NM_014176.4(UBE2T):c.106G>A (p.Ala36Thr)	UBE2T (A36T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2420686	NM_014176.4(UBE2T):c.71G>A (p.Cys24Tyr)	UBE2T (C24Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1972062	NM_014176.4(UBE2T):c.46A>T (p.Thr16Ser)	UBE2T (T16S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1269291	NM_014176.4(UBE2T):c.15A>G (p.Ser5=)	UBE2T	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 199436	NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu)	UBE2T (Q2E)	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group T	GPathogenic
Select item 1338145	NM_014176.4(UBE2T):c.-4G>T	UBE2T	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3063110	GRCh37/hg19 1q32.1(chr1:202261387-202375150)x3	LGR6, PPP1R12B +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425911	NC_000001.10:g.(?_202302118)_(202304882_?)del	UBE2T	Deletion	not provided	GPathogenic
Select item 2425910	NC_000001.10:g.(?_202300963)_(202304882_?)dup	UBE2T	Duplication	not provided	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1069857	NC_000001.10:g.(?_202302138)_(202304882_?)del	UBE2T	Deletion	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 929630	NM_014176.3(UBE2T):c.-65+1253_*12383del	LGR6, UBE2T	Deletion	Fanconi anemia complementation group T	GPathogenic
Select item 806425	GRCh37/hg19 1q32.1(chr1:202302138-202304946)x1	UBE2T	Copy number loss	not provided	GLikely pathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 57