ClinVar for MedGen (Select 766590) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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)	Inborn genetic diseases +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 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 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 711447	NM_145020.5(CFAP53):c.1125G>A (p.Lys375=)	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)	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 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 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 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
Select item 262557	NM_145020.5(CFAP53):c.778-12A>T	CFAP53	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 262556	NM_145020.5(CFAP53):c.691C>T (p.Arg231Cys)	CFAP53 (R231C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 262555	NM_145020.5(CFAP53):c.615G>C (p.Trp205Cys)	CFAP53 (W205C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 262554	NM_145020.5(CFAP53):c.57A>G (p.Lys19=)	CFAP53	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 262553	NM_145020.5(CFAP53):c.474-18T>C	CFAP53	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 262551	NM_145020.5(CFAP53):c.305G>A (p.Arg102His)	CFAP53 (R102H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 262550	NM_145020.5(CFAP53):c.115A>C (p.Arg39=)	CFAP53	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 208550	NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter)	CFAP53 (R41*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 6, autosomal	GPathogenic
Select item 37014	NM_145020.5(CFAP53):c.1213+1G>A	CFAP53	Single nucleotide variant (splice donor variant)	Heterotaxy, visceral, 6, autosomal	GPathogenic

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Items: 68