"Ambry Genetics"[submitter] AND "CFD"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1912317	NM_001928.4(CFD):c.54C>G (p.Cys18Trp)	CFD (C18W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1989973	NM_001928.4(CFD):c.58G>A (p.Ala20Thr)	CFD (A20T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2298473	NM_001928.4(CFD):c.105C>G (p.His35Gln)	CFD (H42Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693726	NM_001928.4(CFD):c.107C>T (p.Ala36Val)	CFD (A36V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1511411	NM_001928.4(CFD):c.118A>G (p.Met40Val)	CFD (M40V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2266601	NM_001928.4(CFD):c.151T>C (p.Cys51Arg)	CFD (C58R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245260	NM_001928.4(CFD):c.154G>A (p.Gly52Ser)	CFD (G59S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325370	NM_001928.4(CFD):c.170C>T (p.Ala57Val)	CFD (A64V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1919854	NM_001928.4(CFD):c.181G>A (p.Val61Met)	CFD (V68M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2412361	NM_001928.4(CFD):c.232G>T (p.Val78Phe)	CFD (V78F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207531	NM_001928.4(CFD):c.267G>T (p.Glu89Asp)	CFD (E89D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1163718	NM_001928.4(CFD):c.268C>T (p.Pro90Ser)	CFD (P90S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2388107	NM_001928.4(CFD):c.271T>C (p.Ser91Pro)	CFD (S98P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1493995	NM_001928.4(CFD):c.286G>T (p.Asp96Tyr)	CFD (D96Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3143777	NM_001928.4(CFD):c.298G>A (p.Ala100Thr)	CFD (A107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2068742	NM_001928.4(CFD):c.298G>C (p.Ala100Pro)	CFD (A100P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354025	NM_001928.4(CFD):c.322C>T (p.Pro108Ser)	CFD (P115S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1428792	NM_001928.4(CFD):c.362C>T (p.Ser121Leu)	CFD (S128L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2536570	NM_001928.4(CFD):c.377T>C (p.Leu126Pro)	CFD (L133P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1036571	NM_001928.4(CFD):c.409C>T (p.Arg137Cys)	CFD (R137C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1492877	NM_001928.4(CFD):c.440T>C (p.Leu147Pro)	CFD (L147P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3143778	NM_001928.4(CFD):c.452C>G (p.Ala151Gly)	CFD (A158G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143779	NM_001928.4(CFD):c.457T>C (p.Trp153Arg)	CFD (W160R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1411594	NM_001928.4(CFD):c.460G>A (p.Gly154Ser)	CFD (G161S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2549887	NM_001928.4(CFD):c.495C>A (p.Ser165Arg)	CFD (S165R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1037449	NM_001928.4(CFD):c.501G>C (p.Gln167His)	CFD (Q167H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2528959	NM_001928.4(CFD):c.515C>T (p.Pro172Leu)	CFD (P172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266578	NM_001928.4(CFD):c.533C>T (p.Thr178Ile)	CFD (T178I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2054188	NM_001928.4(CFD):c.553C>T (p.His185Tyr)	CFD (H185Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2174064	NM_001928.4(CFD):c.562G>A (p.Ala188Thr)	CFD (A195T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2254844	NM_001928.4(CFD):c.569C>T (p.Thr190Ile)	CFD (T190I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1989026	NM_001928.4(CFD):c.601C>T (p.Arg201Trp)	CFD (R201W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1408273	NM_001928.4(CFD):c.623C>G (p.Ser208Cys)	CFD (S208C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3143780	NM_001928.4(CFD):c.632C>T (p.Pro211Leu)	CFD (P218L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266579	NM_001928.4(CFD):c.700A>G (p.Lys234Glu)	CFD (K234E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390862	NM_001928.4(CFD):c.728G>A (p.Ser243Asn)	CFD (S250N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693727	NM_001928.4(CFD):c.737C>T (p.Ala246Val)	CFD (A246V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3143781	NM_001928.4(CFD):c.740G>C (p.Trp247Ser)	CFD (W254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 38