ClinVar for MedGen (Select 59799) - ClinVar

Links from MedGen

Items: 47

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17035961.	GRCh37/hg19 7q11.23(chr7:72700127-74142190) GRCh37: Chr7:72700127-74142190	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 17035952.	GRCh37/hg19 7q11.23(chr7:72701084-74142190) GRCh37: Chr7:72701084-74142190	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 17035943.	GRCh37/hg19 7q11.23(chr7:72700942-74142190) GRCh37: Chr7:72700942-74142190	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 17035934.	GRCh37/hg19 7q11.23(chr7:72700996-74142256) GRCh37: Chr7:72700996-74142256	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 17035925.	GRCh37/hg19 7q11.23(chr7:72921550-74145628) GRCh37: Chr7:72921550-74145628	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 17035916.	GRCh37/hg19 7q11.23(chr7:72718123-74141784) GRCh37: Chr7:72718123-74141784	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 17035907.	GRCh37/hg19 7q11.23(chr7:72645013-74142190) GRCh37: Chr7:72645013-74142190	BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D, ABHD11, ABHD11-AS1		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 17035888.	GRCh37/hg19 7q11.23(chr7:72589515-74629034) GRCh37: Chr7:72589515-74629034	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NCF1, NSUN5, RCC1L, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 17035879.	GRCh37/hg19 7q11.23(chr7:72589195-74225562) GRCh37: Chr7:72589195-74225562	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NCF1, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 170358610.	GRCh37/hg19 7q11.23(chr7:72718123-74142190) GRCh37: Chr7:72718123-74142190	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 168464611.	Single allele GRCh38: Chr7:73304277-74727414	LOC113748409, STX1A, LOC121175346, LOC108254673, CLDN4, MLXIPL, LOC123956163, ABHD11, GTF2I, MIR4284, NSUN5, TRIM50, VPS37D, LOC113748407, MIR590, LOC121740686, LIMK1, LOC123956164, DNAJC30, GTF2IRD1, ELN-AS1, LOC123956162, LOC113748410, LOC123956160, FKBP6, GTF2I-AS1, TMEM270, FZD9, METTL27, LOC123956159, EIF4H, BCL7B, LAT2, CLIP2, CLDN3, MIR10525, TBL2, LOC121175345, LOC123956161, ELN, LOC113748411, RFC2, ABHD11-AS1, LOC111413044, LOC113748408, BUD23, BAZ1B		Hb SS disease, Williams syndrome	Pathogenic (Nov 16, 2021)	criteria provided, single submitter
Select item 145824912.	NM_000501.4(ELN):c.166del (p.Leu56fs) GRCh37: Chr7:73452039 GRCh38: Chr7:74037709	ELN	L56fs, L46fs	Supravalvar aortic stenosis, Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1, Williams syndrome	Pathogenic/Likely pathogenic (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143706813.	NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) GRCh37: Chr7:73469099 GRCh38: Chr7:74054769	ELN	G340R, G348R, G370R, G374R, G384R, G379R, G389R	Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, not provided	Uncertain significance (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141648414.	NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) GRCh37: Chr7:73471985 GRCh38: Chr7:74057655	ELN	A448E, A487E, A458E, A463E	not provided, Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, Supravalvar aortic stenosis	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133980715.	GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1 GRCh37: Chr7:73475600-73478833	ELN		Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis, Williams syndrome	not provided	no assertion provided
Select item 132692816.	NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter) GRCh37: Chr7:72903655 GRCh38: Chr7:73489325	BAZ1B	R254*	Williams syndrome	Uncertain significance (Oct 27, 2021)	no assertion criteria provided
Select item 120179117.	NM_000501.4(ELN):c.403G>A (p.Gly135Arg) GRCh37: Chr7:73457474 GRCh38: Chr7:74043144	ELN	G123R, G125R, G130R, G135R, G140R	Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis, Williams syndrome, not provided	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111474318.	NM_000501.4(ELN):c.381G>A (p.Ala127=) GRCh37: Chr7:73457452 GRCh38: Chr7:74043122	ELN		Supravalvar aortic stenosis, Williams syndrome, Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104786419.	GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310) GRCh37: Chr7:71847968-73391310	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CALN1, CLDN3, CLDN4, DNAJC30, FKBP6, FZD9, METTL27, MLXIPL, NSUN5, POM121, STX1A, TBL2, TMEM270, TRIM50, TRIM74, TYW1B, VPS37D		Williams syndrome	Likely pathogenic (Mar 15, 2021)	criteria provided, single submitter
Select item 100831620.	NM_000501.4(ELN):c.1543G>A (p.Val515Met) GRCh37: Chr7:73474344 GRCh38: Chr7:74060014	ELN, ELN-AS1	V426M, V434M, V482M, V486M, V491M, V496M, V501M, V505M, V515M, V520M, V521M, V544M	Williams syndrome, Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis, Supravalvar aortic stenosis, Inborn genetic diseases, not provided	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97841521.	NC_000007.14:g.73773313_74086695del GRCh37: Chr7:73187643-73501025	CLDN4, ELN, LIMK1, METTL27, TMEM270		Williams syndrome	Pathogenic	no assertion criteria provided
Select item 93134322.	NM_000501.4(ELN):c.134-16T>C GRCh37: Chr7:73450869 GRCh38: Chr7:74036539	ELN		Williams syndrome, Supravalvar aortic stenosis	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 93095623.	NM_000501.4(ELN):c.893T>C (p.Val298Ala) GRCh37: Chr7:73466257 GRCh38: Chr7:74051927	ELN	V254A, V262A, V288A, V293A, V298A, V284A, V303A	Williams syndrome	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 93077824.	NM_000501.4(ELN):c.1104_1105del (p.Ser369fs) GRCh37: Chr7:73469050-73469051 GRCh38: Chr7:74054720-74054721	ELN	S333fs, S359fs, S369fs, S325fs, S355fs, S364fs, S374fs	Williams syndrome	Pathogenic (Sep 12, 2019)	criteria provided, single submitter
Select item 87275425.	NM_000501.4(ELN):c.35G>T (p.Gly12Val) GRCh37: Chr7:73442552 GRCh38: Chr7:74028222	ELN	G12V	Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, Supravalvar aortic stenosis, not provided, Cutis laxa, autosomal dominant 1	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83547226.	NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) GRCh37: Chr7:73469098 GRCh38: Chr7:74054768	ELN	Y369, Y373, Y388, Y339, Y378, Y383, Y347*	Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis, Williams syndrome, Supravalvar aortic stenosis	Pathogenic/Likely pathogenic (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83031427.	Single allele GRCh37: Chr7:72657228-74160300	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic (Dec 2, 2019)	no assertion criteria provided
Select item 78521828.	NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr) GRCh37: Chr7:73011578 GRCh38: Chr7:73597248	MLXIPL	A513T	not provided, Williams syndrome	Benign/Likely benign (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70912329.	NM_032951.3(MLXIPL):c.1096T>C (p.Leu366=) GRCh37: Chr7:73012019 GRCh38: Chr7:73597689	MLXIPL		not provided, Williams syndrome	Benign/Likely benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 62563230.	GRCh37/hg19 7q11.23(chr7:72772522-74133319) GRCh37: Chr7:72772522-74133319	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D		Williams syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62563131.	GRCh37/hg19 7q11.23(chr7:72700996-74142190) GRCh37: Chr7:72700996-74142190	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62563032.	GRCh37/hg19 7q11.23(chr7:72744494-76038818) GRCh37: Chr7:72744494-76038818	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CASTOR2, CCL24, CCL26, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, HIP1, HSPB1, LAT2, LIMK1, MDH2, METTL27, MIR590, MLXIPL, NCF1, POM121C, POR, RCC1L, RFC2, RHBDD2, SPDYE5, SRRM3, SSC4D, STX1A, STYXL1, TBL2, TMEM120A, TMEM270, TRIM73, VPS37D, YWHAG, ZP3		Williams syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62562933.	GRCh37/hg19 7q11.23(chr7:72744494-74339044) GRCh37: Chr7:72744494-74339044	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NCF1, RFC2, STX1A, TBL2, TMEM270, VPS37D		Williams syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62555134.	GRCh37/hg19 7q11.23(chr7:72721449-73959106) GRCh37: Chr7:72721449-73959106	ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D		Williams syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 58505135.	NM_000501.4(ELN):c.1358-199G>A GRCh37: Chr7:73471771 GRCh38: Chr7:74057441	ELN	G473S	not provided, Supravalvar aortic stenosis, Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1, Williams syndrome, Stroke	Uncertain significance (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52422236.	NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) GRCh37: Chr7:73469087 GRCh38: Chr7:74054757	ELN	A380T, A344T, A385T, A375T, A336T, A366T, A370T	Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52421937.	NM_000501.4(ELN):c.1675G>A (p.Val559Ile) GRCh37: Chr7:73474759 GRCh38: Chr7:74060429	ELN, ELN-AS1	V559I, V588I, V530I, V545I, V470I, V478I, V511I, V535I, V540I, V549I, V564I, V565I	Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, not provided, Supravalvar aortic stenosis, Inborn genetic diseases	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52421738.	NM_000501.4(ELN):c.202G>A (p.Gly68Arg) GRCh37: Chr7:73455551 GRCh38: Chr7:74041221	ELN	G68R, G58R	Supravalvar aortic stenosis, not provided, Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, Inborn genetic diseases	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50226539.	NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) GRCh37: Chr7:73470621-73470644 GRCh38: Chr7:74056291-74056314	ELN		not provided, Williams syndrome, Supravalvar aortic stenosis	Conflicting interpretations of pathogenicity (Dec 27, 2022)	criteria provided, conflicting interpretations
Select item 45332840.	NM_000501.4(ELN):c.249C>T (p.Pro83=) GRCh37: Chr7:73456960 GRCh38: Chr7:74042630	ELN		Cutis laxa, autosomal dominant 1, Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, not specified, Supravalvar aortic stenosis	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42309741.	NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) GRCh37: Chr7:73477975 GRCh38: Chr7:74063645	ELN	G648E, G600E, G653E, G654E, G710E, G559E, G567E, G634E, G638E, G624E, G629E, G619E	Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1, Williams syndrome, not provided, Supravalvar aortic stenosis	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36066042.	NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) GRCh37: Chr7:73477690 GRCh38: Chr7:74063360	ELN	A637T, A589T, A642T, A699T, A548T, A613T, A618T, A623T, A643T, A556T, A608T, A627T	Williams syndrome, Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 36063343.	NM_000501.3(ELN):c.-70G>C GRCh37: Chr7:73442448 GRCh38: Chr7:74028118	ELN		Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, Cutis laxa, autosomal dominant, Supravalvar aortic stenosis	Uncertain significance (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21319844.	NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) GRCh37: Chr7:73474484-73474485 GRCh38: Chr7:74060154-74060155	ELN, ELN-AS1	A442F, A507F, A531F, A536F, A517F, A521F, A450F, A502F, A512F, A537F, A560F	Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, not specified	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21319445.	NM_000501.4(ELN):c.92G>A (p.Gly31Glu) GRCh37: Chr7:73449703 GRCh38: Chr7:74035373	ELN	G31E	Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21319246.	NM_000501.4(ELN):c.647G>T (p.Gly216Val) GRCh37: Chr7:73462008 GRCh38: Chr7:74047678	ELN	G216V, G172V, G206V, G211V, G221V	Cutis laxa, autosomal dominant 1, Williams syndrome, Supravalvar aortic stenosis, not provided, Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 21316747.	NM_000501.4(ELN):c.2086+5G>C GRCh37: Chr7:73480332 GRCh38: Chr7:74066002	ELN		Supravalvar aortic stenosis, Williams syndrome, Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis, Cutis laxa, autosomal dominant, not specified	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 47