CFD[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 248

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1461919	NM_001928.4(CFD):c.4C>T (p.His2Tyr)	CFD (H2Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945960	NM_001928.4(CFD):c.8_9delinsTT (p.Ser3Ile)	CFD (S3I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2192251	NM_001928.4(CFD):c.15G>A (p.Glu5=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371851	NM_001928.4(CFD):c.17G>A (p.Arg6His)	CFD (R6H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805769	NM_001928.4(CFD):c.33C>A (p.Val11=)	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 2011547	NM_001928.4(CFD):c.40G>T (p.Gly14Ter)	CFD (G14*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2862898	NM_001928.4(CFD):c.45G>A (p.Ala15=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372595	NM_001928.4(CFD):c.46G>A (p.Ala16Thr)	CFD (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912317	NM_001928.4(CFD):c.54C>G (p.Cys18Trp)	CFD (C18W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1618493	NM_001928.4(CFD):c.55+12T>C	CFD (W23R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1650965	NM_001928.4(CFD):c.55+15G>C	CFD (A24P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1916650	NM_001928.4(CFD):c.55+16C>A	CFD (A24D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1921829	NM_001928.4(CFD):c.56-15C>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561105	NM_001928.4(CFD):c.56-13C>T	CFD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1626916	NM_001928.4(CFD):c.56-12G>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1483555	NM_001928.4(CFD):c.56-9C>A	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625884	NM_001928.4(CFD):c.56-7C>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1518831	NM_001928.4(CFD):c.56-6C>G	CFD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2776681	NM_001928.4(CFD):c.56-5C>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 636704	NM_001928.4(CFD):c.56-1G>C	CFD	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
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 1475324	NM_001928.4(CFD):c.59C>T (p.Ala20Val)	CFD (A20V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571983	NM_001928.4(CFD):c.60G>A (p.Ala20=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163717	NM_001928.4(CFD):c.65C>G (p.Pro22Arg)	CFD (P22R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374995	NM_001928.4(CFD):c.67C>G (p.Arg23Gly)	CFD (R30G +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 1554398	NM_001928.4(CFD):c.75G>T (p.Arg25=)	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 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 1977622	NM_001928.4(CFD):c.84C>A (p.Gly28=)	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 2959502	NM_001928.4(CFD):c.96C>T (p.Ala32=)	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 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 1560392	NM_001928.4(CFD):c.109C>A (p.Arg37=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384440	NM_001928.4(CFD):c.110G>C (p.Arg37Pro)	CFD (R37P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977660	NM_001928.4(CFD):c.112C>T (p.Pro38Ser)	CFD (P38S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472420	NM_001928.4(CFD):c.116A>G (p.Tyr39Cys)	CFD (Y46C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529001	NM_001928.4(CFD):c.117C>T (p.Tyr39=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511411	NM_001928.4(CFD):c.118A>G (p.Met40Val)	CFD (M40V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1494493	NM_001928.4(CFD):c.120G>A (p.Met40Ile)	CFD (M40I +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 636410	NM_001928.4(CFD):c.125C>T (p.Ser42Leu)	CFD (S42L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16564	NM_001928.4(CFD):c.125C>A (p.Ser42Ter)	CFD (S42* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3003211	NM_001928.4(CFD):c.126G>A (p.Ser42=)	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 1449869	NM_001928.4(CFD):c.138C>A (p.Asn46Lys)	CFD (N46K +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 1640765	NM_001928.4(CFD):c.147C>T (p.His49=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1412951	NM_001928.4(CFD):c.153C>A (p.Cys51Ter)	CFD (C58* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1348313	NM_001928.4(CFD):c.157G>A (p.Gly53Ser)	CFD (G53S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924531	NM_001928.4(CFD):c.163C>T (p.Leu55=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413043	NM_001928.4(CFD):c.164T>C (p.Leu55Pro)	CFD (L55P +1 more)	Single nucleotide variant (missense variant)	not provided	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 1652559	NM_001928.4(CFD):c.186G>C (p.Leu62=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927909	NM_001928.4(CFD):c.190G>A (p.Ala64Thr)	CFD (A64T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552013	NM_001928.4(CFD):c.192G>C (p.Ala64=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156913	NM_001928.4(CFD):c.192G>A (p.Ala64=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983390	NM_001928.4(CFD):c.202C>T (p.Leu68=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165412	NM_001928.4(CFD):c.205G>A (p.Glu69Lys)	CFD (E69K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2417863	NM_001928.4(CFD):c.212+2T>G	CFD	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 728897	NM_001928.4(CFD):c.212+7G>T	CFD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167423	NM_001928.4(CFD):c.212+11G>A	CFD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1976911	NM_001928.4(CFD):c.212+13G>A	CFD	Single nucleotide variant (intron 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 402532	NM_001928.4(CFD):c.213-9G>C	CFD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1978505	NM_001928.4(CFD):c.213-7T>A	CFD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1961905	NM_001928.4(CFD):c.213-2A>C	CFD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 1378334	NM_001928.4(CFD):c.219C>A (p.Asp73Glu)	CFD (D73E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385725	NM_001928.4(CFD):c.220G>C (p.Gly74Arg)	CFD (G74R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646720	NM_001928.4(CFD):c.231G>A (p.Gln77=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1470282	NM_001928.4(CFD):c.233T>C (p.Val78Ala)	CFD (V85A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1456219	NM_001928.4(CFD):c.237C>T (p.Leu79=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1400104	NM_001928.4(CFD):c.250T>G (p.Ser84Ala)	CFD (S84A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348296	NM_001928.4(CFD):c.257C>T (p.Ser86Leu)	CFD (S86L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904521	NM_001928.4(CFD):c.258G>A (p.Ser86=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441428	NM_001928.4(CFD):c.265G>C (p.Glu89Gln)	CFD (E89Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 1915129	NM_001928.4(CFD):c.269C>T (p.Pro90Leu)	CFD (P90L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547117	NM_001928.4(CFD):c.270C>T (p.Pro90=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1511979	NM_001928.4(CFD):c.275A>G (p.Lys92Arg)	CFD (K92R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363673	NM_001928.4(CFD):c.278G>A (p.Arg93His)	CFD (R100H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507798	NM_001928.4(CFD):c.281T>A (p.Leu94Gln)	CFD (L94Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454250	NM_001928.4(CFD):c.285C>A (p.Tyr95Ter)	CFD (Y102* +1 more)	Single nucleotide variant (nonsense)	Recurrent Neisseria infections due to factor D deficiency +1 more	GPathogenic
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 3005317	NM_001928.4(CFD):c.299C>T (p.Ala100Val)	CFD (A100V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3