157657[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 363979	NM_177965.4(CFAP418):c.*2617G>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 363980	NM_177965.4(CFAP418):c.*2549C>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 363981	NM_177965.4(CFAP418):c.*2525T>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GBenign
Select item 915068	NM_177965.4(CFAP418):c.*2498A>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 915069	NM_177965.4(CFAP418):c.*2492C>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 363982	NM_177965.4(CFAP418):c.*2419T>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GBenign/Likely benign
Select item 363983	NM_177965.4(CFAP418):c.*2330C>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GConflicting classifications of pathogenicity
Select item 912348	NM_177965.4(CFAP418):c.*2212C>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 912347	NM_177965.4(CFAP418):c.*2212C>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 912349	NM_177965.4(CFAP418):c.*2166T>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GConflicting classifications of pathogenicity
Select item 363984	NM_177965.4(CFAP418):c.*2163T>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GBenign
Select item 913481	NM_177965.4(CFAP418):c.*2129A>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 363985	NM_177965.4(CFAP418):c.*2102G>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 913482	NM_177965.4(CFAP418):c.*2094C>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 363986	NM_177965.4(CFAP418):c.*2017C>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 913860	NM_177965.4(CFAP418):c.*2009C>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 363987	NM_177965.4(CFAP418):c.*1949C>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GBenign/Likely benign
Select item 913861	NM_177965.4(CFAP418):c.*1904G>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 363988	NM_177965.4(CFAP418):c.*1870T>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 915106	NM_177965.4(CFAP418):c.*1811A>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 363989	NM_177965.4(CFAP418):c.*1687T>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 363990	NM_177965.4(CFAP418):c.*1675G>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 912405	NM_177965.4(CFAP418):c.*1667T>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GBenign/Likely benign
Select item 363991	NM_177965.4(CFAP418):c.*1629T>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 912406	NM_177965.4(CFAP418):c.*1628A>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 363992	NM_177965.4(CFAP418):c.1623_1624dup	CFAP418	Duplication (3 prime UTR variant)	Cone-Rod Dystrophy, Recessive +1 more	GUncertain significance
Select item 912407	NM_177965.4(CFAP418):c.*1607T>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 913523	NM_177965.4(CFAP418):c.*1604C>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 913524	NM_177965.4(CFAP418):c.*1474G>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 363993	NM_177965.4(CFAP418):c.*1458A>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GBenign
Select item 913525	NM_177965.4(CFAP418):c.*1151A>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 913905	NM_177965.4(CFAP418):c.*1115G>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 913906	NM_177965.4(CFAP418):c.*1057C>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 363994	NM_177965.4(CFAP418):c.*965C>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 363995	NM_177965.4(CFAP418):c.*944A>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 915150	NM_177965.4(CFAP418):c.*863C>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 915151	NM_177965.4(CFAP418):c.*791G>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 915152	NM_177965.4(CFAP418):c.*644C>G	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 915153	NM_177965.4(CFAP418):c.*536A>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 363996	NM_177965.4(CFAP418):c.*408G>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 363997	NM_177965.4(CFAP418):c.*406A>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 363998	NM_177965.4(CFAP418):c.*383C>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 912446	NM_177965.4(CFAP418):c.*336G>A	CFAP418	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 913561	NM_177965.4(CFAP418):c.*249T>C	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 913562	NM_177965.4(CFAP418):c.*155G>T	CFAP418	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 3033130	NM_177965.4(CFAP418):c.620A>G (p.His207Arg)	CFAP418 (H175R +1 more)	Single nucleotide variant (missense variant)	CFAP418-related disorder	GUncertain significance
Select item 943429	NM_177965.4(CFAP418):c.606G>A (p.Trp202Ter)	CFAP418 (W202* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
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 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 1681115	NM_177965.4(CFAP418):c.601C>T (p.Arg201Cys)	CFAP418 (R169C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632031	NM_177965.4(CFAP418):c.599_600insCA (p.Arg201fs)	CFAP418 (R201fs +1 more)	Insertion (frameshift variant)	C8orf37-related disorder	GUncertain significance
Select item 913563	NM_177965.4(CFAP418):c.598C>A (p.Leu200Ile)	CFAP418 (L168I +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 16 +1 more	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 1094538	NM_177965.4(CFAP418):c.573G>A (p.Val191=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110429	NM_177965.4(CFAP418):c.564T>C (p.Ile188=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1008117	NM_177965.4(CFAP418):c.563T>C (p.Ile188Thr)	CFAP418 (I156T +1 more)	Single nucleotide variant (missense variant)	not provided	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 417788	NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter)	CFAP418 (W185* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2762208	NM_177965.4(CFAP418):c.546G>A (p.Gln182=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31195	NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg)	CFAP418 (Q182R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GPathogenic
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 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 31194	NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)	CFAP418 (R177W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 363999	NM_177965.4(CFAP418):c.528A>G (p.Thr176=)	CFAP418	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283430	NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)	CFAP418 (K174R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1015526	NM_177965.4(CFAP418):c.518A>C (p.Lys173Thr)	CFAP418 (K141T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597525	NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg)	CFAP418 (I171R +1 more)	Single nucleotide variant (missense variant)	CFAP418-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 913949	NM_177965.4(CFAP418):c.498A>G (p.Leu166=)	CFAP418	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 31192	NM_177965.4(CFAP418):c.497T>A (p.Leu166Ter)	CFAP418 (L166* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 64	GPathogenic
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 3030464	NM_177965.4(CFAP418):c.483A>G (p.Pro161=)	CFAP418	Single nucleotide variant (synonymous variant)	CFAP418-related disorder	GLikely benign
Select item 3028134	NM_177965.4(CFAP418):c.471G>A (p.Arg157=)	CFAP418	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1681118	NM_177965.4(CFAP418):c.471-4A>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1681119	NM_177965.4(CFAP418):c.471-13G>A	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1096206	NM_177965.4(CFAP418):c.471-15C>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250376	NM_177965.4(CFAP418):c.471-71dup	CFAP418	Duplication (intron variant)	not provided	GBenign
Select item 1180909	NM_177965.4(CFAP418):c.471-71_471-70dup	CFAP418	Duplication (intron variant)	not provided	GBenign
Select item 1190589	NM_177965.4(CFAP418):c.471-57del	CFAP418	Deletion (intron 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 1021001	NM_177965.4(CFAP418):c.470+3A>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2093697	NM_177965.4(CFAP418):c.460C>A (p.Leu154Met)	CFAP418 (L154M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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