ClinVar for MedGen (Select 99138) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523395	NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)	EFEMP1 (Y397H)	Single nucleotide variant (missense variant)	Night blindness +4 more	GLikely pathogenic
Select item 523376	NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	RHO (S297R)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic
Select item 374080	NC_012920.1:m.14598T>C	MT-ND6	Single nucleotide variant	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 373994	NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)	CEP290 (Q981*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +5 more	GPathogenic/Likely pathogenic
Select item 286074	NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)	CEP290 (R504fs)	Microsatellite (frameshift variant)	Nephronophthisis +10 more	GPathogenic/Likely pathogenic
Select item 267933	46;XY;t(1;14)(p21.2;q11.2)dn;t(4;10)(p13;q11.2)dn		Translocation	Severe global developmental delay +4 more	GLikely pathogenic
Select item 221553	NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)	PMPCA (G356S +2 more)	Single nucleotide variant (missense variant)	Global brain atrophy +12 more	GPathogenic
Select item 221552	NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	PMPCA (A377T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2 +13 more	GPathogenic
Select item 217635	NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	CEP290 (Q1628*)	Single nucleotide variant (nonsense)	Occipital encephalocele +13 more	GPathogenic
Select item 183341	NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)	ARV1 (G189R +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of the nervous system	GLikely pathogenic
Select item 99460	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4 (R2149* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic
Select item 2358	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	USH2A	Single nucleotide variant (synonymous variant)	Rare genetic deafness +10 more	GPathogenic
Select item 1339	NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	CEP290 (K1575*)	Single nucleotide variant (nonsense)	CEP290-Related Disorders +14 more	GPathogenic