Related gene-specific medical variations for Gene (Select 157657) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051008	NM_177965.4(CFAP418):c.150G>A (p.Thr50=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	CFAP418-related condition	GLikely benign
Select item 3028137	NM_177965.4(CFAP418):c.58G>A (p.Asp20Asn)	CFAP418, CFAP418-AS1 +1 more (D20N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2913403	NM_177965.4(CFAP418):c.145G>C (p.Glu49Gln)	CFAP418, CFAP418-AS1 +1 more (E49Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766027	NM_177965.4(CFAP418):c.147G>A (p.Glu49=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105053	NM_177965.4(CFAP418):c.106G>T (p.Gly36Cys)	CFAP418, CFAP418-AS1 +1 more (G36C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050408	NM_177965.4(CFAP418):c.149C>T (p.Thr50Met)	CFAP418, CFAP418-AS1 +1 more (T50M)	Single nucleotide variant (missense variant)	CFAP418-related condition +1 more	GUncertain significance
Select item 2037610	NM_177965.4(CFAP418):c.148A>C (p.Thr50Pro)	CFAP418, CFAP418-AS1 +1 more (T50P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021806	NM_177965.4(CFAP418):c.20A>C (p.Glu7Ala)	CFAP418, CFAP418-AS1 +1 more (E7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973053	NM_177965.4(CFAP418):c.63T>C (p.Leu21=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932495	NM_177965.4(CFAP418):c.50G>A (p.Cys17Tyr)	CFAP418, CFAP418-AS1 +1 more (C17Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927068	NM_177965.4(CFAP418):c.106G>A (p.Gly36Ser)	CFAP418, CFAP418-AS1 +1 more (G36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681158	NM_177965.4(CFAP418):c.19G>T (p.Glu7Ter)	CFAP418, CFAP418-AS1 +1 more (E7*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1681157	NM_177965.4(CFAP418):c.37G>A (p.Glu13Lys)	CFAP418, CFAP418-AS1 +1 more (E13K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1681156	NM_177965.4(CFAP418):c.39G>C (p.Glu13Asp)	CFAP418, CFAP418-AS1 +1 more (E13D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681155	NM_177965.4(CFAP418):c.44A>G (p.Lys15Arg)	CFAP418, CFAP418-AS1 +1 more (K15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1681152	NM_177965.4(CFAP418):c.96C>G (p.Gly32=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681151	NM_177965.4(CFAP418):c.89_99del (p.Pro30fs)	CFAP418, CFAP418-AS1 +1 more (P30fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1681150	NM_177965.4(CFAP418):c.104del (p.Gly35fs)	CFAP418, CFAP418-AS1 +1 more (G35fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1681149	NM_177965.4(CFAP418):c.119G>C (p.Ser40Thr)	CFAP418, CFAP418-AS1 +1 more (S40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681148	NM_177965.4(CFAP418):c.120C>G (p.Ser40Arg)	CFAP418, CFAP418-AS1 +1 more (S40R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681147	NM_177965.4(CFAP418):c.129C>A (p.Asn43Lys)	CFAP418, CFAP418-AS1 +1 more (N43K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681146	NM_177965.4(CFAP418):c.151C>T (p.Leu51Phe)	CFAP418, CFAP418-AS1 +1 more (L51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681145	NM_177965.4(CFAP418):c.155+10G>A	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1297145	NM_177965.4(CFAP418):c.3G>A (p.Met1Ile)	CFAP418, CFAP418-AS1 +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 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 1150639	NM_177965.4(CFAP418):c.9G>A (p.Glu3=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1119219	NM_177965.4(CFAP418):c.155+7C>T	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1113580	NM_177965.4(CFAP418):c.105C>T (p.Gly35=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1063549	NM_177965.4(CFAP418):c.133G>A (p.Ala45Thr)	CFAP418, CFAP418-AS1 +1 more (A45T)	Single nucleotide variant (missense variant)	CFAP418-related condition +1 more	GUncertain significance
Select item 1059198	NM_177965.4(CFAP418):c.71G>C (p.Arg24Pro)	LOC130000784, CFAP418 +1 more (R24P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057429	NM_177965.4(CFAP418):c.28G>A (p.Asp10Asn)	CFAP418, CFAP418-AS1 +1 more (D10N)	Single nucleotide variant (missense variant)	not provided	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)	CFAP418-related condition +4 more	GUncertain significance
Select item 1047305	NM_177965.4(CFAP418):c.26T>C (p.Leu9Ser)	LOC130000784, CFAP418 +1 more (L9S)	Single nucleotide variant (missense variant)	not provided	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 1040646	NM_177965.4(CFAP418):c.134C>T (p.Ala45Val)	CFAP418, CFAP418-AS1 +1 more (A45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1024433	NM_177965.4(CFAP418):c.55C>T (p.Pro19Ser)	CFAP418, CFAP418-AS1 +1 more (P19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010828	NM_177965.4(CFAP418):c.74G>A (p.Gly25Asp)	CFAP418, CFAP418-AS1 +1 more (G25D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000982	NM_177965.4(CFAP418):c.71G>A (p.Arg24Gln)	CFAP418, CFAP418-AS1 +1 more (R24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963040	NM_177965.4(CFAP418):c.88C>G (p.Pro30Ala)	CFAP418, CFAP418-AS1 +1 more (P30A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953986	NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly)	CFAP418, CFAP418-AS1 +1 more (A45G)	Single nucleotide variant (missense variant)	CFAP418-related condition +4 more	GUncertain significance
Select item 930729	NM_177965.4(CFAP418):c.363del (p.Asn121fs)	CFAP418 (N121fs)	Deletion (frameshift variant)	Cone-rod dystrophy 16	GPathogenic
Select item 912480	NM_177965.4(CFAP418):c.15G>A (p.Leu5=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 866348	NM_177965.4(CFAP418):c.433_444del (p.Tyr145_Asp148del)	CFAP418	Deletion (inframe_deletion +1 more)	Retinal dystrophy	GUncertain significance
Select item 861519	NM_177965.4(CFAP418):c.16G>A (p.Asp6Asn)	CFAP418, CFAP418-AS1 +1 more (D6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 851252	NM_177965.4(CFAP418):c.17A>G (p.Asp6Gly)	LOC130000784, CFAP418-AS1 +1 more (D6G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837732	NM_177965.4(CFAP418):c.118A>G (p.Ser40Gly)	CFAP418, CFAP418-AS1 +1 more (S40G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802425	NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser)	CFAP418, CFAP418-AS1 +1 more (G32S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 788871	NM_177965.4(CFAP418):c.155+8G>A	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 631535	NM_177965.4(CFAP418):c.16_19del (p.Asp6fs)	LOC130000784, CFAP418 +1 more (D6fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 417790	NM_177965.4(CFAP418):c.155+2T>C	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (splice donor variant)	Cone-rod dystrophy 16 +1 more	GPathogenic
Select item 364003	NM_177965.4(CFAP418):c.-5T>C	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 364002	NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala)	CFAP418, CFAP418-AS1 +1 more (P19A)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 290835	NM_177965.4(CFAP418):c.126G>C (p.Arg42=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 57