CFAP53[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 3043070	NM_145020.5(CFAP53):c.*4C>T	CFAP53	Single nucleotide variant (3 prime UTR variant)	CFAP53-related disorder	GLikely benign
Select item 1392383	NM_145020.5(CFAP53):c.1541C>A (p.Pro514Gln)	CFAP53 (P514Q)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 2051263	NM_145020.5(CFAP53):c.1521A>G (p.Ala507=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 651324	NM_145020.5(CFAP53):c.1514G>A (p.Arg505His)	CFAP53 (R505H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 473245	NM_145020.5(CFAP53):c.1514G>T (p.Arg505Leu)	CFAP53 (R505L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 1953801	NM_145020.5(CFAP53):c.1513C>A (p.Arg505Ser)	CFAP53 (R505S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +1 more	GUncertain significance
Select item 767053	NM_145020.5(CFAP53):c.1513C>T (p.Arg505Cys)	CFAP53 (R505C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3143547	NM_145020.5(CFAP53):c.1499A>G (p.Asn500Ser)	CFAP53 (N500S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1043108	NM_145020.5(CFAP53):c.1475C>T (p.Ser492Phe)	CFAP53 (S492F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 3266474	NM_145020.5(CFAP53):c.1448G>A (p.Cys483Tyr)	CFAP53 (C483Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143546	NM_145020.5(CFAP53):c.1445T>C (p.Met482Thr)	CFAP53 (M482T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030233	NM_145020.5(CFAP53):c.1411C>T (p.Arg471Ter)	CFAP53 (R471*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 3143545	NM_145020.5(CFAP53):c.1409G>A (p.Arg470His)	CFAP53 (R470H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3143544	NM_145020.5(CFAP53):c.1372C>G (p.Gln458Glu)	CFAP53 (Q458E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143543	NM_145020.5(CFAP53):c.1361A>C (p.Gln454Pro)	CFAP53 (Q454P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1485412	NM_145020.5(CFAP53):c.1357A>G (p.Met453Val)	CFAP53 (M453V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 2506009	NM_145020.5(CFAP53):c.1318C>T (p.Arg440Cys)	CFAP53 (R440C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 2863549	NM_145020.5(CFAP53):c.1316+20A>G	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 1494109	NM_145020.5(CFAP53):c.1282G>T (p.Glu428Ter)	CFAP53 (E428*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 3143541	NM_145020.5(CFAP53):c.1264A>G (p.Ile422Val)	CFAP53 (I422V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648715	NM_145020.5(CFAP53):c.1243C>A (p.Arg415Ser)	CFAP53 (R415S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 767486	NM_145020.5(CFAP53):c.1214-4T>G	CFAP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856794	NM_145020.5(CFAP53):c.1213+17C>A	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 1057411	NM_145020.5(CFAP53):c.1213+4A>G	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 37014	NM_145020.5(CFAP53):c.1213+1G>A	CFAP53	Single nucleotide variant (splice donor variant)	Heterotaxy, visceral, 6, autosomal	GPathogenic
Select item 2495946	NM_145020.5(CFAP53):c.1186A>G (p.Thr396Ala)	CFAP53 (T396A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 964003	NM_145020.5(CFAP53):c.1183T>G (p.Cys395Gly)	CFAP53 (C395G)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 3266473	NM_145020.5(CFAP53):c.1180A>G (p.Met394Val)	CFAP53 (M394V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143540	NM_145020.5(CFAP53):c.1174G>A (p.Glu392Lys)	CFAP53 (E392K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1374764	NM_145020.5(CFAP53):c.1153G>T (p.Ala385Ser)	CFAP53 (A385S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 711447	NM_145020.5(CFAP53):c.1125G>A (p.Lys375=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 969306	NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu)	CFAP53 (D367E)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +2 more	GConflicting classifications of pathogenicity
Select item 1095232	NM_145020.5(CFAP53):c.1059A>G (p.Glu353=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 3143539	NM_145020.5(CFAP53):c.1049G>A (p.Arg350His)	CFAP53 (R350H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 957789	NM_145020.5(CFAP53):c.1033T>C (p.Tyr345His)	CFAP53 (Y345H)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 2046403	NM_145020.5(CFAP53):c.1024T>C (p.Tyr342His)	CFAP53 (Y342H)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 2914683	NM_145020.5(CFAP53):c.1004_1008del (p.Met335fs)	CFAP53 (M335fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 6, autosomal	GPathogenic
Select item 2848245	NM_145020.5(CFAP53):c.993A>G (p.Lys331=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 2877292	NM_145020.5(CFAP53):c.957A>G (p.Gln319=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 262562	NM_145020.5(CFAP53):c.945A>G (p.Gln315=)	CFAP53	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2602855	NM_145020.5(CFAP53):c.941T>G (p.Val314Gly)	CFAP53 (V314G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 262561	NM_145020.5(CFAP53):c.939C>T (p.Leu313=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign
Select item 2606984	NM_145020.5(CFAP53):c.931A>G (p.Met311Val)	CFAP53 (M311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143559	NM_145020.5(CFAP53):c.916G>A (p.Glu306Lys)	CFAP53 (E306K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2048654	NM_145020.5(CFAP53):c.915C>T (p.Asp305=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 766857	NM_145020.5(CFAP53):c.910A>G (p.Arg304Gly)	CFAP53 (R304G)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +1 more	GBenign
Select item 262560	NM_145020.5(CFAP53):c.880G>A (p.Glu294Lys)	CFAP53 (E294K)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign
Select item 2441724	NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter)	CFAP53 (Q293*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 6, autosomal	GLikely pathogenic
Select item 718963	NM_145020.5(CFAP53):c.876A>T (p.Leu292=)	CFAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078821	NM_145020.5(CFAP53):c.843G>A (p.Lys281=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 738571	NM_145020.5(CFAP53):c.807G>A (p.Glu269=)	CFAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079045	NM_145020.5(CFAP53):c.804T>C (p.His268=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 262559	NM_145020.5(CFAP53):c.798T>A (p.Ile266=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign
Select item 3143558	NM_145020.5(CFAP53):c.790G>A (p.Ala264Thr)	CFAP53 (A264T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 262558	NM_145020.5(CFAP53):c.789C>T (p.Asn263=)	CFAP53	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1057622	NM_145020.5(CFAP53):c.781A>G (p.Ser261Gly)	CFAP53 (S261G)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 1065350	NM_145020.5(CFAP53):c.778-2A>T	CFAP53	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 262557	NM_145020.5(CFAP53):c.778-12A>T	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign
Select item 1065355	NM_145020.5(CFAP53):c.777G>T (p.Val259=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy	GLikely pathogenic
Select item 1418796	NM_145020.5(CFAP53):c.772C>T (p.Leu258Phe)	CFAP53 (L258F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 3143557	NM_145020.5(CFAP53):c.770G>A (p.Arg257His)	CFAP53 (R257H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 960150	NM_145020.5(CFAP53):c.769C>T (p.Arg257Cys)	CFAP53 (R257C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3143556	NM_145020.5(CFAP53):c.752T>G (p.Leu251Arg)	CFAP53 (L251R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 540465	NM_145020.5(CFAP53):c.740C>T (p.Ala247Val)	CFAP53 (A247V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 1512604	NM_145020.5(CFAP53):c.737A>T (p.Gln246Leu)	CFAP53 (Q246L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 1966222	NM_145020.5(CFAP53):c.698G>A (p.Gly233Glu)	CFAP53 (G233E)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 262556	NM_145020.5(CFAP53):c.691C>T (p.Arg231Cys)	CFAP53 (R231C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign
Select item 3266471	NM_145020.5(CFAP53):c.689C>T (p.Thr230Ile)	CFAP53 (T230I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464740	NM_145020.5(CFAP53):c.646G>A (p.Glu216Lys)	CFAP53 (E216K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 262555	NM_145020.5(CFAP53):c.615G>C (p.Trp205Cys)	CFAP53 (W205C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign
Select item 3143555	NM_145020.5(CFAP53):c.608A>G (p.Lys203Arg)	CFAP53 (K203R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2442192	NM_145020.5(CFAP53):c.553G>A (p.Ala185Thr)	CFAP53 (A185T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +1 more	GUncertain significance
Select item 3143554	NM_145020.5(CFAP53):c.521A>G (p.Lys174Arg)	CFAP53 (K174R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1124003	NM_145020.5(CFAP53):c.498T>A (p.Val166=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 540466	NM_145020.5(CFAP53):c.494G>A (p.Arg165His)	CFAP53 (R165H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3266476	NM_145020.5(CFAP53):c.479G>C (p.Arg160Pro)	CFAP53 (R160P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2039219	NM_145020.5(CFAP53):c.474-6T>C	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 262553	NM_145020.5(CFAP53):c.474-18T>C	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign
Select item 488411	NM_145020.5(CFAP53):c.301_473+1del	CFAP53	Deletion (splice acceptor variant +1 more)	Dextrocardia	GLikely pathogenic
Select item 217132	NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly)	CFAP53 (R158G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3143553	NM_145020.5(CFAP53):c.470T>G (p.Phe157Cys)	CFAP53 (F157C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143552	NM_145020.5(CFAP53):c.458T>C (p.Leu153Pro)	CFAP53 (L153P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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