ClinVar for MedGen (Select 332090) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438574	NM_139281.3(WDR36):c.2057A>T (p.Asp686Val)	WDR36 (D686V)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, G +1 more	GUncertain significance
Select item 1684227	NM_139281.3(WDR36):c.542+30C>T	WDR36	Single nucleotide variant (intron variant)	Glaucoma 1, open angle, G	GBenign
Select item 1289469	NM_139281.3(WDR36):c.1797-30A>G	WDR36	Single nucleotide variant (intron variant)	Glaucoma 1, open angle, G +1 more	GBenign
Select item 1281113	NM_139281.3(WDR36):c.543-31dup	WDR36	Duplication (intron variant)	Glaucoma 1, open angle, G +1 more	GBenign
Select item 1247765	NM_139281.3(WDR36):c.1717-20_1717-19insATATA	WDR36	Insertion (intron variant)	Glaucoma 1, open angle, G +1 more	GBenign/Likely benign
Select item 1229384	NM_139281.3(WDR36):c.1717-20T>A	WDR36	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 262466	NM_139281.3(WDR36):c.622A>G (p.Ile208Val)	WDR36 (I264V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 262465	NM_139281.3(WDR36):c.2013A>T (p.Val671=)	WDR36	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1583	NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln)	WDR36 (R473Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1582	NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)	WDR36 (A393T)	Single nucleotide variant (missense variant)	Usher syndrome type 2C +1 more	GBenign/Likely benign
Select item 1581	NM_139281.3(WDR36):c.896A>G (p.Asn299Ser)	WDR36 (N299S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, G +1 more	GConflicting classifications of pathogenicity
Select item 1580	NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)	WDR36 (D658G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign