"PreventionGenetics, part of Exact Sciences"[submitter] AND "CFAP418"[ - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3030464	NM_177965.4(CFAP418):c.483A>G (p.Pro161=)	CFAP418	Single nucleotide variant (synonymous variant)	CFAP418-related disorder	GLikely benign
Select item 2981558	NM_177965.4(CFAP418):c.456T>C (p.Asp152=)	CFAP418	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1681120	NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp)	CFAP418 (S150W)	Single nucleotide variant (missense variant +1 more)	CFAP418-related disorder +4 more	GUncertain significance
Select item 1135365	NM_177965.4(CFAP418):c.436A>C (p.Met146Leu)	CFAP418 (M146L)	Single nucleotide variant (missense variant +1 more)	CFAP418-related disorder +1 more	GLikely benign
Select item 725033	NM_177965.4(CFAP418):c.392G>A (p.Arg131His)	CFAP418 (R131H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1925515	NM_177965.4(CFAP418):c.374+1G>C	CFAP418	Single nucleotide variant (splice donor variant)	CFAP418-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1681129	NM_177965.4(CFAP418):c.318G>A (p.Pro106=)	CFAP418	Single nucleotide variant (synonymous variant)	CFAP418-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 939845	NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu)	CFAP418 (P106L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 16 +4 more	GUncertain significance
Select item 3030454	NM_177965.4(CFAP418):c.308+6T>C	CFAP418	Single nucleotide variant (intron variant)	CFAP418-related disorder	GLikely benign
Select item 522286	NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser)	CFAP418 (N90S)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1681133	NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe)	CFAP418 (S85F)	Single nucleotide variant (missense variant)	CFAP418-related disorder +4 more	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 957321	NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile)	CFAP418 (S65I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 3051008	NM_177965.4(CFAP418):c.150G>A (p.Thr50=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	CFAP418-related disorder	GLikely benign
Select item 2050408	NM_177965.4(CFAP418):c.149C>T (p.Thr50Met)	CFAP418-AS1, LOC130000784 +1 more (T50M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 953986	NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly)	CFAP418-AS1, CFAP418 +1 more (A45G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 1063549	NM_177965.4(CFAP418):c.133G>A (p.Ala45Thr)	CFAP418, CFAP418-AS1 +1 more (A45T)	Single nucleotide variant (missense variant)	CFAP418-related disorder +1 more	GUncertain significance
Select item 1047519	NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu)	CFAP418, CFAP418-AS1 +1 more (K15E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

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Items: 21