ClinVar for Gene (Select 51540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685885	GRCh37/hg19 2q37.3(chr2:238178706-239202040)x3	COL6A3, ERFE +13 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 1808873	GRCh37/hg19 2q37.3(chr2:238845377-239074923)x3	ERFE, ESPNL +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	ACKR3, AGAP1 +59 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	ACKR3, AGAP1 +94 more	Copy number loss	Chromosome 2q37 deletion syndrome	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 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1411455	NC_000002.11:g.(?_238233417)_(242801596_?)del	AGXT, ANKMY1 +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	AGXT, ANKMY1 +53 more	Duplication	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ACKR3, AGAP1 +59 more	Duplication	not provided	GUncertain significance
Select item 1340528	GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1	PASK, RAB17 +53 more	Copy number loss	not provided	GPathogenic
Select item 997810	Single allele	D2HGDH, DTYMK +57 more	Deletion	Intellectual disability	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	KCNJ13, NGEF +97 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 980018	GRCh37/hg19 2q37.3(chr2:238509115-239053313)x3	ESPNL, LRRFIP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 929330	GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3	AGXT, ANKMY1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 816588	GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1	ACKR3, AGAP1 +37 more	Copy number loss	not provided	GPathogenic
Select item 816585	GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1	ACKR3, AGAP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 816583	GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1	RAB17, ASB1 +41 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 814374	GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3	ACKR3, AGXT +56 more	Copy number gain	not provided	GPathogenic
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 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 785026	NM_016510.7(SCLY):c.612+7C>T	SCLY, UBE2F-SCLY	Single nucleotide variant	not provided	GBenign
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 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 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 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 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	AGXT, ANKMY1 +49 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	ACKR3, AGAP1 +57 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 617595	GRCh37/hg19 2q37.3(chr2:238245132-239052675)x3	MLPH, PRLH +9 more	Copy number gain	not provided	GUncertain significance
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562672	GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3	ACKR3, AGAP1 +65 more	Copy number gain	not provided	GPathogenic
Select item 562671	GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1	AQP12B, ASB1 +59 more	Copy number loss	not provided	GPathogenic
Select item 562662	GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1	GPC1, ACKR3 +33 more	Copy number loss	not provided	GPathogenic
Select item 443896	GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 443370	GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1	ACKR3, AGAP1 +75 more	Copy number loss	See cases	GPathogenic
Select item 443310	GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1	AGXT, ANKMY1 +54 more	Copy number loss	See cases	GPathogenic
Select item 443171	GRCh37/hg19 2q37.3(chr2:239007990-239166847)x3	ERFE, ESPNL +5 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	ACKR3, ACSL3 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +83 more	Copy number loss	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 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 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 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	ACKR3, AGAP1 +325 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 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	LOC129935988, LOC129935989 +235 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 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 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 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	ACKR3, AGAP1 +180 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 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	LOC126806573, LOC126806574 +288 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 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	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 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic

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