ClinVar (all) for Orgtrack (Select 506207) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978211	NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)	MN1 (E1260*)	Single nucleotide variant (nonsense)	CEBALID syndrome +1 more	GConflicting classifications of pathogenicity
Select item 638647	NM_138572.3(TAF8):c.781-1G>A	TAF8	Single nucleotide variant (splice acceptor variant)	TAF8-related disorder +3 more	GPathogenic
Select item 626915	NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro)	CHD7 (L1302P)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GPathogenic
Select item 626914	NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp)	CHD7 (G1982W)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 587696	NM_001349338.3(FOXP1):c.1348+1G>C	FOXP1	Single nucleotide variant (splice donor variant)	Autism +1 more	GPathogenic
Select item 586962	NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr)	GJB2 (D66Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 430832	NM_017780.4(CHD7):c.5405-2A>G	CHD7	Single nucleotide variant (splice acceptor variant +1 more)	CHARGE syndrome	GPathogenic
Select item 428610	NM_017780.4(CHD7):c.5405-13G>A	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GPathogenic
Select item 428609	NM_017780.4(CHD7):c.5405-18C>A	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GPathogenic
Select item 235889	NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)	CHD7 (R2319C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 195978	NM_017780.4(CHD7):c.5405-17G>A	CHD7	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 95795	NM_017780.4(CHD7):c.5405-7G>A	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GPathogenic