ClinVar for MedGen (Select 376281) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366963	NM_001711.6(BGN):c.640C>T (p.Arg214Cys)	BGN (R214C)	Single nucleotide variant (missense variant)	Meester-Loeys syndrome +1 more	GUncertain significance
Select item 1723874	NM_001711.6(BGN):c.441G>C (p.Lys147Asn)	BGN (K147N)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia	GLikely pathogenic
Select item 1675114	NM_001711.6(BGN):c.955G>A (p.Asp319Asn)	BGN (D319N)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia +1 more	GUncertain significance
Select item 1316894	NM_001711.6(BGN):c.954C>T (p.Asn318=)	BGN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1192384	NM_001711.6(BGN):c.909+115T>C	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 1192383	NM_001711.6(BGN):c.771-32C>T	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 1192382	NM_001711.6(BGN):c.238+75A>G	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 1166521	NM_001711.6(BGN):c.540C>T (p.Ser180=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 1165870	NM_001711.6(BGN):c.141G>A (p.Ser47=)	BGN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1098726	NM_001711.6(BGN):c.257A>G (p.Lys86Arg)	BGN (K86R)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia +4 more	GBenign/Likely benign
Select item 1033441	NM_001711.6(BGN):c.682C>T (p.Pro228Ser)	BGN (P228S)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia	GUncertain significance
Select item 1033440	NM_001711.6(BGN):c.17G>A (p.Arg6His)	BGN (R6H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1029523	NM_001711.6(BGN):c.645C>G (p.Ile215Met)	BGN (I215M)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia	GUncertain significance
Select item 774542	NM_001711.6(BGN):c.111C>T (p.Asn37=)	BGN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 243091	NM_001711.6(BGN):c.776G>T (p.Gly259Val)	BGN (G259V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 243090	NM_001711.6(BGN):c.439A>G (p.Lys147Glu)	BGN (K147E)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia	GPathogenic
Select item 11307	NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	ABCD1 (R518W)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 11299	NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	ABCD1 (G266R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GPathogenic