ClinVar for MedGen (Select 59799) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362601	NM_000501.4(ELN):c.583T>G (p.Phe195Val)	ELN (F151V +5 more)	Single nucleotide variant (missense variant)	Williams syndrome	GUncertain significance
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703596	GRCh37/hg19 7q11.23(chr7:72700127-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703595	GRCh37/hg19 7q11.23(chr7:72701084-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703594	GRCh37/hg19 7q11.23(chr7:72700942-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703593	GRCh37/hg19 7q11.23(chr7:72700996-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703592	GRCh37/hg19 7q11.23(chr7:72921550-74145628)	ABHD11, ABHD11-AS1 +21 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703591	GRCh37/hg19 7q11.23(chr7:72718123-74141784)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703590	GRCh37/hg19 7q11.23(chr7:72645013-74142190)	BAZ1B, BCL7B +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	ABHD11, ABHD11-AS1 +29 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703587	GRCh37/hg19 7q11.23(chr7:72589195-74225562)	ABHD11, ABHD11-AS1 +27 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703586	GRCh37/hg19 7q11.23(chr7:72718123-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1458249	NM_000501.4(ELN):c.166del (p.Leu56fs)	ELN (L56fs +1 more)	Deletion (frameshift variant)	Cutis laxa, autosomal dominant 1 +2 more	GPathogenic/Likely pathogenic
Select item 1437068	NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)	ELN (G340R +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +3 more	GUncertain significance
Select item 1416484	NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)	ELN (A448E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1339807	GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1	ELN	Copy number loss	Cutis laxa, autosomal dominant 1 +2 more	Gnot provided
Select item 1326928	NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter)	BAZ1B (R254*)	Single nucleotide variant (nonsense)	Williams syndrome	GUncertain significance
Select item 1201791	NM_000501.4(ELN):c.403G>A (p.Gly135Arg)	ELN (G123R +4 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +3 more	GUncertain significance
Select item 1114743	NM_000501.4(ELN):c.381G>A (p.Ala127=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +2 more	GLikely benign
Select item 1047864	GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)	ABHD11, ABHD11-AS1 +20 more	Copy number loss	Williams syndrome	GLikely pathogenic
Select item 1008316	NM_000501.4(ELN):c.1543G>A (p.Val515Met)	ELN, ELN-AS1 (V426M +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 978415	NC_000007.14:g.73773313_74086695del	CLDN4, ELN +3 more	Deletion	Williams syndrome	GPathogenic
Select item 931343	NM_000501.4(ELN):c.134-16T>C	ELN	Single nucleotide variant (intron variant)	Williams syndrome +1 more	GConflicting classifications of pathogenicity
Select item 930956	NM_000501.4(ELN):c.893T>C (p.Val298Ala)	ELN (V254A +6 more)	Single nucleotide variant (missense variant)	Williams syndrome	GUncertain significance
Select item 930778	NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)	ELN (S333fs +6 more)	Microsatellite (frameshift variant)	Williams syndrome	GPathogenic
Select item 872754	NM_000501.4(ELN):c.35G>T (p.Gly12Val)	ELN (G12V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 835472	NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	ELN (Y369* +6 more)	Single nucleotide variant (nonsense)	Supravalvar aortic stenosis +2 more	GPathogenic/Likely pathogenic
Select item 830314	Single allele	FKBP6, FZD9 +25 more	Deletion	Williams syndrome	GPathogenic
Select item 785218	NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr)	MLXIPL (A513T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 709123	NM_032951.3(MLXIPL):c.1096T>C (p.Leu366=)	MLXIPL	Single nucleotide variant (synonymous variant +1 more)	Williams syndrome +1 more	GBenign/Likely benign
Select item 636522	NM_000501.4(ELN):c.1363G>A (p.Gly455Arg)	ELN (G455R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 625632	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625631	GRCh37/hg19 7q11.23(chr7:72700996-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625629	GRCh37/hg19 7q11.23(chr7:72744494-74339044)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625551	GRCh37/hg19 7q11.23(chr7:72721449-73959106)	ABHD11, ABHD11-AS1 +24 more	Copy number loss	Williams syndrome	GPathogenic
Select item 585051	NM_000501.4(ELN):c.1358-199G>A	ELN (G473S)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +5 more	GUncertain significance
Select item 524222	NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)	ELN (A380T +6 more)	Single nucleotide variant (missense variant)	Williams syndrome +2 more	GUncertain significance
Select item 524219	NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	ELN-AS1, ELN (V559I +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +5 more	GConflicting classifications of pathogenicity
Select item 524217	NM_000501.4(ELN):c.202G>A (p.Gly68Arg)	ELN (G68R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 502265	NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)	ELN	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 453328	NM_000501.4(ELN):c.249C>T (p.Pro83=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +3 more	GBenign/Likely benign
Select item 423097	NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)	ELN (G648E +11 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 360660	NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	ELN (A637T +11 more)	Single nucleotide variant (missense variant)	Williams syndrome +3 more	GConflicting classifications of pathogenicity
Select item 360633	NM_000501.3(ELN):c.-70G>C	ELN	Single nucleotide variant	Cutis laxa, autosomal dominant +3 more	GUncertain significance
Select item 213198	NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)	ELN, ELN-AS1 (A442F +10 more)	Indel (missense variant +1 more)	Cutis laxa, autosomal dominant 1 +3 more	GUncertain significance
Select item 213194	NM_000501.4(ELN):c.92G>A (p.Gly31Glu)	ELN (G31E)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 213192	NM_000501.4(ELN):c.647G>T (p.Gly216Val)	ELN (G216V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 213167	NM_000501.4(ELN):c.2086+5G>C	ELN	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 1 +5 more	GBenign

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Links from MedGen

Items: 53