UBE2F-SCLY[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088830, LOC132088831 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	ACKR3, AGAP1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	ACKR3, AGAP1 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	LOC110120803, LOC110121201 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	LOC129935986, LOC129935987 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	LOC129936018, LOC129936019 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	LOC126806573, LOC126806574 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	ACKR3, AGXT +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	RBM44, RNPEPL1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	AGXT, ANKMY1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58938	GRCh38/hg38 2q37.3(chr2:237643996-238287366)x3	ERFE, ESPNL +42 more	Copy number gain	See cases	GUncertain significance
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	AGXT, ANKMY1 +250 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	LOC129935988, LOC129935989 +235 more	Copy number loss	See cases	GPathogenic
Select item 2207785	NM_080678.3(UBE2F):c.28C>T (p.Arg10Cys)	UBE2F-SCLY, UBE2F (R10C)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2330611	NM_080678.3(UBE2F):c.73G>A (p.Asp25Asn)	UBE2F, UBE2F-SCLY (D25N)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2224738	NM_080678.3(UBE2F):c.77C>T (p.Ser26Leu)	UBE2F, UBE2F-SCLY (S26L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2212856	NM_080678.3(UBE2F):c.268G>A (p.Ala90Thr)	UBE2F, UBE2F-SCLY (A90T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275850	NM_080678.3(UBE2F):c.301C>G (p.Leu101Val)	UBE2F, UBE2F-SCLY (L77V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332120	NM_080678.3(UBE2F):c.442A>G (p.Thr148Ala)	UBE2F, UBE2F-SCLY (T116A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308572	NM_016510.7(SCLY):c.-6G>T	LOC129935933, SCLY +1 more	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2387804	NM_016510.7(SCLY):c.32C>T (p.Ala11Val)	LOC129935933, SCLY +1 more (A11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206509	NM_016510.7(SCLY):c.206G>T (p.Arg69Ile)	UBE2F-SCLY, SCLY (R69I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305409	NM_016510.7(SCLY):c.211G>A (p.Ala71Thr)	SCLY, UBE2F-SCLY (A71T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622936	NM_016510.7(SCLY):c.235C>T (p.Arg79Trp)	SCLY, UBE2F-SCLY (R79W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 785025	NM_016510.7(SCLY):c.258A>G (p.Ile86Met)	SCLY, UBE2F-SCLY (I86M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2553451	NM_016510.7(SCLY):c.260G>T (p.Gly87Val)	SCLY, UBE2F-SCLY (G87V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367063	NM_016510.7(SCLY):c.430G>C (p.Glu144Gln)	SCLY, UBE2F-SCLY (E144Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608609	NM_016510.7(SCLY):c.499C>G (p.Pro167Ala)	SCLY, UBE2F-SCLY (P167A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459792	NM_016510.7(SCLY):c.500C>T (p.Pro167Leu)	SCLY, UBE2F-SCLY (P167L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458344	NM_016510.7(SCLY):c.535G>A (p.Asp179Asn)	SCLY, UBE2F-SCLY (D179N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355484	NM_016510.7(SCLY):c.583C>G (p.Leu195Val)	UBE2F-SCLY, SCLY (L195V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 785026	NM_016510.7(SCLY):c.612+7C>T	SCLY, UBE2F-SCLY	Single nucleotide variant	not provided	GBenign
Select item 2557971	NM_016510.7(SCLY):c.628A>C (p.Ser210Arg)	SCLY, UBE2F-SCLY (S210R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545839	NM_016510.7(SCLY):c.635G>C (p.Arg212Pro)	SCLY, UBE2F-SCLY (R212P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282193	NM_016510.7(SCLY):c.661G>A (p.Val221Met)	SCLY, UBE2F-SCLY (V221M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512161	NM_016510.7(SCLY):c.688G>A (p.Val230Met)	SCLY, UBE2F-SCLY (V230M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2273105	NM_016510.7(SCLY):c.724C>A (p.Arg242Ser)	UBE2F-SCLY, SCLY (R242S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398163	NM_016510.7(SCLY):c.727G>A (p.Val243Met)	SCLY, UBE2F-SCLY (V243M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 775836	NM_016510.7(SCLY):c.827T>C (p.Phe276Ser)	SCLY, UBE2F-SCLY (F276S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2214678	NM_016510.7(SCLY):c.868C>T (p.Arg290Trp)	SCLY, UBE2F-SCLY (R290W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589543	NM_016510.7(SCLY):c.901A>G (p.Met301Val)	SCLY, UBE2F-SCLY (M301V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464953	NM_016510.7(SCLY):c.925G>A (p.Ala309Thr)	SCLY, UBE2F-SCLY (A309T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557391	NM_016510.7(SCLY):c.926C>G (p.Ala309Gly)	SCLY, UBE2F-SCLY (A309G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 785027	NM_016510.7(SCLY):c.976G>A (p.Val326Ile)	SCLY, UBE2F-SCLY (V326I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2493640	NM_016510.7(SCLY):c.1055C>G (p.Thr352Ser)	SCLY, UBE2F-SCLY (T352S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558481	NM_016510.7(SCLY):c.1078A>C (p.Asn360His)	SCLY, UBE2F-SCLY (N360H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410615	NM_016510.7(SCLY):c.1090C>T (p.Arg364Trp)	UBE2F-SCLY, SCLY (R364W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217058	NM_016510.7(SCLY):c.1156G>T (p.Ala386Ser)	SCLY, UBE2F-SCLY (A386S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716841	NM_016510.7(SCLY):c.1161G>C (p.Ala387=)	SCLY, UBE2F-SCLY	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2403980	NM_016510.7(SCLY):c.1187C>T (p.Pro396Leu)	LOC112840914, SCLY +1 more (P396L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227156	NM_016510.7(SCLY):c.1208A>G (p.Tyr403Cys)	LOC112840914, SCLY +1 more (Y403C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2216012	NM_016510.7(SCLY):c.1229C>A (p.Ala410Asp)	LOC112840914, SCLY +1 more (A410D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782740	NM_016510.7(SCLY):c.1233G>A (p.Arg411=)	LOC112840914, SCLY +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 788481	NM_016510.7(SCLY):c.1275C>T (p.Ala425=)	LOC112840914, SCLY +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2617402	NM_016510.7(SCLY):c.1276G>A (p.Glu426Lys)	LOC112840914, SCLY +1 more (E426K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352823	NM_016510.7(SCLY):c.1316C>T (p.Ala439Val)	LOC112840914, SCLY +1 more (A439V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 80