ClinVar for MedGen (Select 908923) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340097	NM_017721.5(CC2D1A):c.1264C>T (p.Gln422Ter)	CC2D1A (Q422*)	Single nucleotide variant (nonsense)	Ciliopathy	GLikely pathogenic
Select item 3338662	NM_017721.5(CC2D1A):c.1186C>T (p.Arg396Ter)	CC2D1A (R396*)	Single nucleotide variant (nonsense)	Ciliopathy	GLikely pathogenic
Select item 3064232	NM_001377.3(DYNC2H1):c.10309G>A (p.Glu3437Lys)	DYNC2H1 (E3437K +1 more)	Single nucleotide variant (missense variant)	Ciliopathy	GUncertain significance
Select item 3061837	NM_016122.3(CEP83):c.1588G>T (p.Glu530Ter)	CEP83 (E426* +2 more)	Single nucleotide variant (nonsense +1 more)	Ciliopathy	GLikely pathogenic
Select item 2500743	NM_152730.6(TBC1D32):c.2200C>T (p.Arg734Ter)	TBC1D32 (R734*)	Single nucleotide variant (nonsense +1 more)	Ciliopathy +2 more	GPathogenic/Likely pathogenic
Select item 812432	NM_001077418.3(TMEM231):c.352T>G (p.Leu118Val)	TMEM231 (L118V +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliopathy	GPathogenic
Select item 445818	NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)	TMEM231 (L134F +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GConflicting classifications of pathogenicity
Select item 381892	NM_016122.3(CEP83):c.1118A>T (p.Asp373Val)	CEP83 (D373V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18 +2 more	GConflicting classifications of pathogenicity
Select item 363923	NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)	TMEM67 (V767I +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +9 more	GUncertain significance
Select item 266082	NM_003157.6(NEK4):c.2017dup (p.Ile673fs)	NEK4 (I584fs +3 more)	Duplication (frameshift variant)	Ciliopathy	GLikely pathogenic
Select item 218893	NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs)	IFT81 (D362fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 218892	NM_014055.4(IFT81):c.1188+1G>A	IFT81	Single nucleotide variant (splice donor variant)	Ciliopathy	GUncertain significance
Select item 217595	NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)	CC2D2A (Q1096H +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 166804	NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys)	CC2D2A (R1128C)	Single nucleotide variant (missense variant)	Ciliopathy +5 more	GUncertain significance
Select item 56309	NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)	CC2D2A (E1259* +1 more)	Duplication (nonsense)	Familial aplasia of the vermis +5 more	GPathogenic