ClinVar for Gene (Select 157657) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063016	GRCh37/hg19 8q22.1(chr8:95895701-97004415)x3	CCNE2, CFAP418 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
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 3033130	NM_177965.4(CFAP418):c.620A>G (p.His207Arg)	CFAP418 (H175R +1 more)	Single nucleotide variant (missense variant)	CFAP418-related condition	GUncertain significance
Select item 3030464	NM_177965.4(CFAP418):c.483A>G (p.Pro161=)	CFAP418	Single nucleotide variant (synonymous variant)	CFAP418-related condition	GLikely benign
Select item 3030454	NM_177965.4(CFAP418):c.308+6T>C	CFAP418	Single nucleotide variant (intron 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 3028136	NM_177965.4(CFAP418):c.290T>C (p.Ile97Thr)	CFAP418 (I97T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028135	NM_177965.4(CFAP418):c.417A>G (p.Val139=)	CFAP418	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028134	NM_177965.4(CFAP418):c.471G>A (p.Arg157=)	CFAP418	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 2988380	NM_177965.4(CFAP418):c.345A>C (p.Pro115=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981558	NM_177965.4(CFAP418):c.456T>C (p.Asp152=)	CFAP418	Single nucleotide variant (synonymous variant +1 more)	CFAP418-related condition +1 more	GLikely benign
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 2908412	NM_177965.4(CFAP418):c.369A>G (p.Ser123=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830538	NM_177965.4(CFAP418):c.470+16A>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2762208	NM_177965.4(CFAP418):c.546G>A (p.Gln182=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722267	NM_177965.4(CFAP418):c.244-10T>C	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710693	NM_177965.4(CFAP418):c.243+15A>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684548	GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3	CCNE2, CDH17 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 2423451	NC_000008.10:g.(?_96037237)_(97345794_?)dup	CFAP418, GDF6 +5 more	Duplication	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2132762	NM_177965.4(CFAP418):c.375-20A>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124954	NM_177965.4(CFAP418):c.438G>A (p.Met146Ile)	CFAP418 (M146I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2093697	NM_177965.4(CFAP418):c.460C>A (p.Leu154Met)	CFAP418 (L154M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2092818	NM_177965.4(CFAP418):c.322T>C (p.Tyr108His)	CFAP418 (Y108H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089115	NM_177965.4(CFAP418):c.187_188insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGATGATC (p.Asp62_Leu63insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysGluAspAsp)	CFAP418	Insertion (inframe_insertion)	not provided	GPathogenic
Select item 2077799	NM_177965.4(CFAP418):c.304A>G (p.Lys102Glu)	CFAP418 (K102E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052243	NM_177965.4(CFAP418):c.349G>A (p.Gly117Arg)	CFAP418 (G117R)	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 2048948	NM_177965.4(CFAP418):c.241T>G (p.Ser81Ala)	CFAP418 (S81A)	Single nucleotide variant (missense variant)	not provided	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 2035943	NM_177965.4(CFAP418):c.406G>A (p.Asp136Asn)	CFAP418 (D136N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2024855	NM_177965.4(CFAP418):c.440G>C (p.Trp147Ser)	CFAP418 (W147S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2023081	NM_177965.4(CFAP418):c.376G>A (p.Ala126Thr)	CFAP418 (A126T)	Single nucleotide variant (missense variant +1 more)	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 2011267	NM_177965.4(CFAP418):c.311G>C (p.Cys104Ser)	CFAP418 (C104S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999323	NM_177965.4(CFAP418):c.492C>G (p.His164Gln)	CFAP418 (H132Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979016	NM_177965.4(CFAP418):c.284C>A (p.Ala95Asp)	CFAP418 (A95D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978059	NM_177965.4(CFAP418):c.308+14G>A	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977973	NM_177965.4(CFAP418):c.226T>C (p.Leu76=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976786	NM_177965.4(CFAP418):c.251A>C (p.Lys84Thr)	CFAP418 (K84T)	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 1953916	NM_177965.4(CFAP418):c.156-17G>A	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947122	NM_177965.4(CFAP418):c.469A>G (p.Arg157Gly)	CFAP418 (R157G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940651	NM_177965.4(CFAP418):c.593A>G (p.His198Arg)	CFAP418 (H198R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939067	NM_177965.4(CFAP418):c.299T>G (p.Leu100Arg)	CFAP418 (L100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939020	NM_177965.4(CFAP418):c.156-20T>C	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934984	NM_177965.4(CFAP418):c.308+13T>C	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933136	NM_177965.4(CFAP418):c.308+4A>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1930594	NM_177965.4(CFAP418):c.449C>T (p.Ser150Leu)	CFAP418 (S150L)	Single nucleotide variant (missense variant +1 more)	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 1925515	NM_177965.4(CFAP418):c.374+1G>C	CFAP418	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1924582	NM_177965.4(CFAP418):c.362A>C (p.Asn121Thr)	CFAP418 (N121T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919696	NM_177965.4(CFAP418):c.243+10G>A	CFAP418	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1917411	NM_177965.4(CFAP418):c.602G>A (p.Arg201His)	CFAP418 (R169H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914742	NM_177965.4(CFAP418):c.374+8G>T	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900033	NM_177965.4(CFAP418):c.308+12T>A	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899789	NM_177965.4(CFAP418):c.395G>C (p.Cys132Ser)	CFAP418 (C132S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
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 1681143	NM_177965.4(CFAP418):c.174A>G (p.Lys58=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681142	NM_177965.4(CFAP418):c.179A>G (p.Glu60Gly)	CFAP418 (E60G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681141	NM_177965.4(CFAP418):c.190G>A (p.Asp64Asn)	CFAP418 (D64N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681140	NM_177965.4(CFAP418):c.201T>A (p.Ile67=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681139	NM_177965.4(CFAP418):c.210A>G (p.Ile70Met)	CFAP418 (I70M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681138	NM_177965.4(CFAP418):c.220C>A (p.Pro74Thr)	CFAP418 (P74T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681137	NM_177965.4(CFAP418):c.240C>G (p.Pro80=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681136	NM_177965.4(CFAP418):c.243+11T>C	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681135	NM_177965.4(CFAP418):c.243+12G>A	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681134	NM_177965.4(CFAP418):c.244-17T>C	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681133	NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe)	CFAP418 (S85F)	Single nucleotide variant (missense variant)	CFAP418-related condition +4 more	GUncertain significance
Select item 1681132	NM_177965.4(CFAP418):c.298dup (p.Leu100fs)	CFAP418 (L100fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1681131	NM_177965.4(CFAP418):c.308+7T>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681130	NM_177965.4(CFAP418):c.308+19G>T	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681129	NM_177965.4(CFAP418):c.318G>A (p.Pro106=)	CFAP418	Single nucleotide variant (synonymous variant)	CFAP418-related condition +2 more	GConflicting classifications of pathogenicity
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 1681127	NM_177965.4(CFAP418):c.349_353del (p.Gly117fs)	CFAP418 (G117fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1681126	NM_177965.4(CFAP418):c.374+18T>C	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign

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