ClinVar for MedGen (Select 1374358) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1681154	NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro)	CFAP418, CFAP418-AS1 +1 more (L22P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681153	NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys)	CFAP418, CFAP418-AS1 +1 more (E28K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681144	NM_177965.4(CFAP418):c.155+20T>G	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1681133	NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe)	CFAP418 (S85F)	Single nucleotide variant (missense variant)	CFAP418-related disorder +4 more	GUncertain significance
Select item 1681128	NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg)	CFAP418 (G111R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681125	NM_177965.4(CFAP418):c.375-16T>A	CFAP418	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1681122	NM_177965.4(CFAP418):c.414G>A (p.Leu138=)	CFAP418	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1681121	NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn)	CFAP418 (S141N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1681120	NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp)	CFAP418 (S150W)	Single nucleotide variant (missense variant +1 more)	CFAP418-related disorder +4 more	GUncertain significance
Select item 1681117	NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln)	CFAP418 (R145Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681116	NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly)	CFAP418 (R154G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681114	NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro)	CFAP418 (R169P +1 more)	Single nucleotide variant (missense variant)	Bardet-biedl syndrome 21 +3 more	GUncertain significance
Select item 1179152	NM_177965.4(CFAP418):c.124del (p.Arg42fs)	LOC130000784, CFAP418 +1 more (R42fs)	Deletion (frameshift variant)	Cone-rod dystrophy 16 +2 more	GPathogenic
Select item 1167428	NM_177965.4(CFAP418):c.243+20T>C	CFAP418	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1070350	NM_177965.4(CFAP418):c.177del (p.Glu60fs)	CFAP418 (E60fs)	Deletion (frameshift variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 1055937	NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr)	CFAP418 (C132Y)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 16 +3 more	GUncertain significance
Select item 1047519	NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu)	CFAP418, CFAP418-AS1 +1 more (K15E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1045329	NM_177965.4(CFAP418):c.155+12G>A	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	Bardet-biedl syndrome 21 +3 more	GConflicting classifications of pathogenicity
Select item 957321	NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile)	CFAP418 (S65I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 953986	NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly)	CFAP418-AS1, CFAP418 +1 more (A45G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 939845	NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu)	CFAP418 (P106L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 16 +4 more	GUncertain significance
Select item 684432	NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter)	CFAP418, CFAP418-AS1 +1 more (Q44*)	Single nucleotide variant (nonsense)	Bardet-biedl syndrome 21	GLikely pathogenic
Select item 684431	NM_177965.4(CFAP418):c.240del (p.Ser81fs)	CFAP418 (S81fs)	Deletion (frameshift variant)	Bardet-biedl syndrome 21	GLikely pathogenic
Select item 430653	NM_177965.4(CFAP418):c.533C>T (p.Ala178Val)	CFAP418 (A178V +1 more)	Single nucleotide variant (missense variant)	CFAP418-related disorder +1 more	GUncertain significance
Select item 417789	NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter)	CFAP418 (K102*)	Single nucleotide variant (nonsense)	Bardet-biedl syndrome 21	GPathogenic
Select item 31194	NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)	CFAP418 (R177W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 26