ClinVar for Gene (Select 51540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316482	NM_016510.7(SCLY):c.1177G>A (p.Gly393Arg)	SCLY, UBE2F-SCLY (G393R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3316481	NM_016510.7(SCLY):c.553C>T (p.Arg185Cys)	SCLY, UBE2F-SCLY (R185C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3158462	NM_016510.7(SCLY):c.946T>C (p.Cys316Arg)	SCLY, UBE2F-SCLY (C316R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158461	NM_016510.7(SCLY):c.899C>T (p.Pro300Leu)	SCLY, UBE2F-SCLY (P300L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158460	NM_016510.7(SCLY):c.34C>G (p.Pro12Ala)	LOC129935933, SCLY +1 more (P12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158458	NM_016510.7(SCLY):c.299C>G (p.Thr100Ser)	SCLY, UBE2F-SCLY (T100S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158457	NM_016510.7(SCLY):c.292G>A (p.Gly98Arg)	SCLY, UBE2F-SCLY (G98R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158456	NM_016510.7(SCLY):c.218A>G (p.Asp73Gly)	SCLY, UBE2F-SCLY (D73G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158455	NM_016510.7(SCLY):c.191C>T (p.Pro64Leu)	SCLY, UBE2F-SCLY (P64L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3158454	NM_016510.7(SCLY):c.150G>T (p.Met50Ile)	SCLY, UBE2F-SCLY (M50I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158453	NM_016510.7(SCLY):c.1285C>T (p.Leu429Phe)	LOC112840914, SCLY +1 more (L429F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158452	NM_016510.7(SCLY):c.1169C>T (p.Ser390Leu)	SCLY, UBE2F-SCLY (S390L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158451	NM_016510.7(SCLY):c.979C>T (p.Arg327Cys)	SCLY, UBE2F-SCLY (R327C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148871	GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3	ASB1, COL6A3 +16 more	Copy number gain	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
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)	not specified	GUncertain significance
Select item 2617402	NM_016510.7(SCLY):c.1276G>A (p.Glu426Lys)	LOC112840914, SCLY +1 more (E426K)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2410615	NM_016510.7(SCLY):c.1090C>T (p.Arg364Trp)	SCLY, UBE2F-SCLY (R364W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2387804	NM_016510.7(SCLY):c.32C>T (p.Ala11Val)	LOC129935933, SCLY +1 more (A11V)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2355484	NM_016510.7(SCLY):c.583C>G (p.Leu195Val)	SCLY, UBE2F-SCLY (L195V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2308572	NM_016510.7(SCLY):c.-6G>T	LOC129935933, SCLY +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2273105	NM_016510.7(SCLY):c.724C>A (p.Arg242Ser)	SCLY, UBE2F-SCLY (R242S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2206509	NM_016510.7(SCLY):c.206G>T (p.Arg69Ile)	SCLY, UBE2F-SCLY (R69I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 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	LOC122889013, LOC122889014 +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	ANKMY1, ATG4B +53 more	Duplication	D-2-hydroxyglutaric aciduria 1 +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	DTYMK, DUSP28 +96 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)	SCLY, SEPTIN2 +48 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 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 +59 more	Copy number loss	See cases	GPathogenic
Select item 443370	GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1	ACKR3, AGAP1 +74 more	Copy number loss	See cases	GPathogenic
Select item 443310	GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1	AGXT, ANKMY1 +53 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)	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
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +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

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