ClinVar for Gene (Select 220136) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043070	NM_145020.5(CFAP53):c.*4C>T	CFAP53	Single nucleotide variant (3 prime UTR variant)	CFAP53-related condition	GLikely benign
Select item 2914683	NM_145020.5(CFAP53):c.1004_1008del (p.Met335fs)	CFAP53 (M335fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 6, autosomal	GPathogenic
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 2863549	NM_145020.5(CFAP53):c.1316+20A>G	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	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 2855189	NM_145020.5(CFAP53):c.111A>T (p.Leu37=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
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 2768045	NM_145020.5(CFAP53):c.20G>T (p.Gly7Val)	CFAP53 (G7V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 2742478	NM_145020.5(CFAP53):c.117A>G (p.Arg39=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 2648717	NM_145020.5(CFAP53):c.93A>G (p.Gln31=)	CFAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648716	NM_145020.5(CFAP53):c.267G>A (p.Gly89=)	CFAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648715	NM_145020.5(CFAP53):c.1243C>A (p.Arg415Ser)	CFAP53 (R415S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615986	NM_145020.5(CFAP53):c.136A>C (p.Lys46Gln)	CFAP53 (K46Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2602855	NM_145020.5(CFAP53):c.941T>G (p.Val314Gly)	CFAP53 (V314G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2495946	NM_145020.5(CFAP53):c.1186A>G (p.Thr396Ala)	CFAP53 (T396A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469235	NM_145020.5(CFAP53):c.335A>G (p.Tyr112Cys)	CFAP53 (Y112C)	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 2442192	NM_145020.5(CFAP53):c.553G>A (p.Ala185Thr)	CFAP53 (A185T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
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 2155044	NM_145020.5(CFAP53):c.146C>T (p.Ala49Val)	CFAP53 (A49V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 2100864	NM_145020.5(CFAP53):c.235G>C (p.Val79Leu)	CFAP53 (V79L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
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 2051263	NM_145020.5(CFAP53):c.1521A>G (p.Ala507=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
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 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 2039219	NM_145020.5(CFAP53):c.474-6T>C	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
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 1953801	NM_145020.5(CFAP53):c.1513C>A (p.Arg505Ser)	CFAP53 (R505S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1627515	NM_145020.5(CFAP53):c.194A>G (p.Glu65Gly)	CFAP53 (E65G)	Single nucleotide variant (missense variant)	CFAP53-related condition +1 more	GLikely benign
Select item 1578549	NM_145020.5(CFAP53):c.300-4T>A	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 1571589	NM_145020.5(CFAP53):c.71G>T (p.Arg24Ile)	CFAP53 (R24I)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1516204	NM_145020.5(CFAP53):c.413A>C (p.Lys138Thr)	CFAP53 (K138T)	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 1494109	NM_145020.5(CFAP53):c.1282G>T (p.Glu428Ter)	CFAP53 (E428*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 6, autosomal	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 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 1412074	NC_000018.9:g.(?_46570425)_(48604837_?)dup	ACAA2, C18orf32 +14 more	Duplication	not provided	GUncertain significance
Select item 1403920	NM_145020.5(CFAP53):c.121C>G (p.Arg41Gly)	CFAP53 (R41G)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
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 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 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1160504	NM_145020.5(CFAP53):c.69+9A>G	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
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 1095232	NM_145020.5(CFAP53):c.1059A>G (p.Glu353=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal	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 1065355	NM_145020.5(CFAP53):c.777G>T (p.Val259=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy	GLikely pathogenic
Select item 1065350	NM_145020.5(CFAP53):c.778-2A>T	CFAP53	Single nucleotide variant (splice acceptor variant)	Heterotaxy	GPathogenic
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 1057411	NM_145020.5(CFAP53):c.1213+4A>G	CFAP53	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 6, autosomal	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 1030233	NM_145020.5(CFAP53):c.1411C>T (p.Arg471Ter)	CFAP53 (R471*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 969306	NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu)	CFAP53 (D367E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 960150	NM_145020.5(CFAP53):c.769C>T (p.Arg257Cys)	CFAP53 (R257C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 959683	NM_145020.5(CFAP53):c.253G>A (p.Asp85Asn)	CFAP53 (D85N)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	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 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 771951	NM_145020.5(CFAP53):c.124C>T (p.Arg42Cys)	CFAP53 (R42C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GLikely benign
Select item 767486	NM_145020.5(CFAP53):c.1214-4T>G	CFAP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 767053	NM_145020.5(CFAP53):c.1513C>T (p.Arg505Cys)	CFAP53 (R505C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +1 more	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	GBenign
Select item 752370	NM_145020.5(CFAP53):c.13C>A (p.Arg5=)	CFAP53	Single nucleotide variant (synonymous variant)	not provided	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 718963	NM_145020.5(CFAP53):c.876A>T (p.Leu292=)	CFAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 651324	NM_145020.5(CFAP53):c.1514G>A (p.Arg505His)	CFAP53 (R505H)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 641101	NM_145020.5(CFAP53):c.239G>A (p.Arg80Gln)	CFAP53 (R80Q)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal	GUncertain significance
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 560610	NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser)	CFAP53 (P16S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 540466	NM_145020.5(CFAP53):c.494G>A (p.Arg165His)	CFAP53 (R165H)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign/Likely benign
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 488411	NM_145020.5(CFAP53):c.301_473+1del	CFAP53	Deletion (splice acceptor variant +1 more)	Dextrocardia	GLikely pathogenic
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 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	ADNP2, ALPK2 +101 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	ACAA2, ADNP2 +128 more	Copy number gain	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442216	GRCh37/hg19 18q21.1(chr18:47654984-48163538)x3	CFAP53, CXXC1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	CD226, CDH19 +109 more	Copy number loss	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
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 262561	NM_145020.5(CFAP53):c.939C>T (p.Leu313=)	CFAP53	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 262560	NM_145020.5(CFAP53):c.880G>A (p.Glu294Lys)	CFAP53 (E294K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 262559	NM_145020.5(CFAP53):c.798T>A (p.Ile266=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal +1 more	GBenign
Select item 262558	NM_145020.5(CFAP53):c.789C>T (p.Asn263=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign

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