ClinVar for MedGen (Select 57541) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978559	NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs)	FBN1 (Q1253fs)	Deletion (frameshift variant)	Pes planus +8 more	GPathogenic
Select item 523412	NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)	ZNF469 (G3178S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +8 more	GUncertain significance
Select item 523411	NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)	ZNF469 (N857D)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +9 more	GUncertain significance
Select item 523335	NM_000138.5(FBN1):c.7829A>G (p.Glu2610Gly)	FBN1 (E2610G)	Single nucleotide variant (missense variant)	Striae distensae +2 more	GLikely pathogenic
Select item 523271	GRCh37/hg19 1q41(chr1:215829463-219225857)	ESRRG, GPATCH2 +4 more	Copy number loss	Scoliosis +4 more	GPathogenic
Select item 320853	NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)	ZNF469 (G157E)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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