ClinVar for Gene (Select 1675) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3040763	NM_001928.4(CFD):c.-8G>A	CFD	Single nucleotide variant (5 prime UTR variant)	CFD-related disorder	GLikely benign
Select item 3010968	NM_001928.4(CFD):c.572A>G (p.Glu191Gly)	CFD (E198G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005317	NM_001928.4(CFD):c.299C>T (p.Ala100Val)	CFD (A100V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003211	NM_001928.4(CFD):c.126G>A (p.Ser42=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000633	NM_001928.4(CFD):c.678G>A (p.Ser226=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998374	NM_001928.4(CFD):c.358-6C>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996438	NM_001928.4(CFD):c.357+4G>C	CFD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2981476	NM_001928.4(CFD):c.480C>T (p.Gly160=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980694	NM_001928.4(CFD):c.360G>T (p.Leu120=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978135	NM_001928.4(CFD):c.616-19C>A	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968058	NM_001928.4(CFD):c.345C>T (p.Leu115=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959502	NM_001928.4(CFD):c.96C>T (p.Ala32=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904521	NM_001928.4(CFD):c.258G>A (p.Ser86=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900060	NM_001928.4(CFD):c.132del (p.Gln44fs)	CFD (Q44fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2891965	NM_001928.4(CFD):c.616-4G>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879016	NM_001928.4(CFD):c.621C>T (p.Asp207=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877457	NM_001928.4(CFD):c.358-15C>A	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862898	NM_001928.4(CFD):c.45G>A (p.Ala15=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842632	NM_001928.4(CFD):c.720C>G (p.Arg240=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826073	NM_001928.4(CFD):c.105C>T (p.His35=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817005	NM_001928.4(CFD):c.615+21_615+48dup	CFD	Duplication (intron variant)	not provided	GLikely benign
Select item 2812683	NM_001928.4(CFD):c.354A>G (p.Leu118=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805769	NM_001928.4(CFD):c.33C>A (p.Val11=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790423	NM_001928.4(CFD):c.213-15C>G	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786051	NM_001928.4(CFD):c.324C>T (p.Pro108=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778667	NM_001928.4(CFD):c.552C>T (p.His184=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778161	NM_001928.4(CFD):c.55+7A>C	CFD (E21A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2776681	NM_001928.4(CFD):c.56-5C>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768548	NM_001928.4(CFD):c.679C>A (p.Arg227Ser)	CFD (R234S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725978	NM_001928.4(CFD):c.618T>C (p.Gly206=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713661	NM_001928.4(CFD):c.39A>G (p.Leu13=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2683466	NM_001928.4(CFD):c.245C>T (p.Ala82Val)	CFD (A82V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648870	NM_001928.4(CFD):c.69T>G (p.Arg23=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2424323	NC_000019.9:g.(?_863072)_(863238_?)del	CFD	Deletion	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2421674	NM_001928.4(CFD):c.695G>C (p.Arg232Pro)	CFD (R232P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418176	NM_001928.4(CFD):c.142G>A (p.Ala48Thr)	CFD (A48T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417863	NM_001928.4(CFD):c.212+2T>G	CFD	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 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 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 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 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 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 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 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 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 2202078	NM_001928.4(CFD):c.633G>A (p.Pro211=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200132	NM_001928.4(CFD):c.735G>A (p.Ala245=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192251	NM_001928.4(CFD):c.15G>A (p.Glu5=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188074	NM_001928.4(CFD):c.309C>T (p.His103=)	CFD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2180433	NM_001928.4(CFD):c.324C>G (p.Pro108=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179709	NM_001928.4(CFD):c.93G>C (p.Glu31Asp)	CFD (E31D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174064	NM_001928.4(CFD):c.562G>A (p.Ala188Thr)	CFD (A195T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2171069	NM_001928.4(CFD):c.571G>C (p.Glu191Gln)	CFD (E191Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160186	NM_001928.4(CFD):c.584G>A (p.Cys195Tyr)	CFD (C195Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126366	NM_001928.4(CFD):c.512T>C (p.Leu171Ser)	CFD (L178S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123926	NM_001928.4(CFD):c.726G>C (p.Ala242=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119815	NM_001928.4(CFD):c.573G>A (p.Glu191=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118968	NM_001928.4(CFD):c.567C>G (p.Ile189Met)	CFD (I189M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116439	NM_001928.4(CFD):c.381C>A (p.Gly127=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112208	NM_001928.4(CFD):c.404G>T (p.Trp135Leu)	CFD (W135L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112015	NM_001928.4(CFD):c.648C>A (p.Gly216=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103584	NM_001928.4(CFD):c.608G>A (p.Ser203Asn)	CFD (S203N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091050	NM_001928.4(CFD):c.615G>A (p.Lys205=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2086491	NM_001928.4(CFD):c.557A>T (p.Asp186Val)	CFD (D186V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085389	NM_001928.4(CFD):c.428C>T (p.Ala143Val)	CFD (A143V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082841	NM_001928.4(CFD):c.616-10G>C	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077091	NM_001928.4(CFD):c.358-259_461delinsCATTGA	CFD	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2071713	NM_001928.4(CFD):c.693C>A (p.Asn231Lys)	CFD (N231K +1 more)	Single nucleotide variant (missense variant)	not provided	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 2067534	NM_001928.4(CFD):c.79C>G (p.Leu27Val)	CFD (L27V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062993	NM_001928.4(CFD):c.215C>T (p.Ala72Val)	CFD (A72V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060850	NM_001928.4(CFD):c.740G>T (p.Trp247Leu)	CFD (W254L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057174	NM_001928.4(CFD):c.122C>A (p.Ala41Glu)	CFD (A41E +1 more)	Single nucleotide variant (missense variant)	not provided	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 2050654	NM_001928.4(CFD):c.381C>T (p.Gly127=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047249	NM_001928.4(CFD):c.77T>G (p.Ile26Ser)	CFD (I26S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024793	NM_001928.4(CFD):c.616-2A>G	CFD	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2012693	NM_001928.4(CFD):c.704C>A (p.Pro235His)	CFD (P235H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011547	NM_001928.4(CFD):c.40G>T (p.Gly14Ter)	CFD (G14*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2009380	NM_001928.4(CFD):c.411C>T (p.Arg137=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007474	NM_001928.4(CFD):c.502C>T (p.His168Tyr)	CFD (H168Y +1 more)	Single nucleotide variant (missense variant)	not provided	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	GUncertain significance
Select item 1989026	NM_001928.4(CFD):c.601C>T (p.Arg201Trp)	CFD (R201W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1986025	NM_001928.4(CFD):c.752T>G (p.Val251Gly)	CFD (V251G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983390	NM_001928.4(CFD):c.202C>T (p.Leu68=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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