"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 374151	NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup)	ELN	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
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 523433	NM_000501.4(ELN):c.898A>T (p.Thr300Ser)	ELN (T300S +6 more)	Single nucleotide variant (missense variant)	not provided +9 more	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 163391	NM_000501.4(ELN):c.1150+1G>A	ELN	Single nucleotide variant (splice donor variant)	Supravalvar aortic stenosis +7 more	GConflicting classifications of pathogenicity
Select item 360660	NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	ELN (A637T +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +3 more	GConflicting classifications of pathogenicity
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic
Select item 523283	GRCh37/hg19 7q11.23(chr7:72766313-74133332)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic