ClinVar for MedGen (Select 886621) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062267	NM_001291867.2(NHS):c.1108+1G>A	NHS	Single nucleotide variant (splice donor variant)	Nance-Horan syndrome +1 more	GLikely pathogenic
Select item 2574627	NM_001291867.2(NHS):c.566-52355A>G	NHS	Single nucleotide variant (intron variant)	Cataract 40	GUncertain significance
Select item 2574153	NM_001291867.2(NHS):c.853-2A>C	NHS	Single nucleotide variant (splice acceptor variant +1 more)	Cataract 40	GPathogenic
Select item 1030452	NM_001291867.2(NHS):c.546C>G (p.Asp182Glu)	NHS (D182E)	Single nucleotide variant (missense variant)	Cataract 40 +1 more	GUncertain significance
Select item 930367	NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)	NHS (Q212E +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 211596	NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln)	NHS (R59Q)	Indel (missense variant)	not specified +2 more	GUncertain significance
Select item 198926	NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro)	NHS (T1574P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 198294	NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)	NHS (H1083Y +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 167351	NM_001291867.2(NHS):c.152C>T (p.Ala51Val)	NHS (A51V)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 96644	NM_001291867.2(NHS):c.566-10dup	NHS	Duplication (intron variant)	Cataract 40 +3 more	GBenign/Likely benign
Select item 11030	NM_001291867.2(NHS):c.566-154020_566-149209del	LOC101928389, NHS	Deletion (intron variant)	Cataract 40	GPathogenic
Select item 11029	NCBI36/hg18 Xp22.13(chrX:17104696-17800261)x3	NHS	Copy number gain	Cataract 40	GPathogenic
Select item 11025	NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)	NHS (R217* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic