ClinVar for Gene (Select 81494) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380492	NM_030787.4(CFHR5):c.1697C>T (p.Pro566Leu)	CFHR5 (P566L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380478	NM_030787.4(CFHR5):c.1541T>C (p.Met514Thr)	CFHR5 (M514T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380474	NM_030787.4(CFHR5):c.1337C>A (p.Thr446Asn)	CFHR5 (T446N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380472	NM_030787.4(CFHR5):c.1159C>A (p.Gln387Lys)	CFHR5 (Q387K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380469	NM_030787.4(CFHR5):c.971-6T>G	CFHR5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380464	NM_030787.4(CFHR5):c.759T>G (p.Asp253Glu)	CFHR5 (D253E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380457	NM_030787.4(CFHR5):c.608G>A (p.Gly203Glu)	CFHR5 (G203E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380454	NM_030787.4(CFHR5):c.430+5G>T	CFHR5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380447	NM_030787.4(CFHR5):c.344A>G (p.Asn115Ser)	CFHR5 (N115S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380443	NM_030787.4(CFHR5):c.239C>A (p.Thr80Lys)	CFHR5 (T80K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266610	NM_030787.4(CFHR5):c.400T>C (p.Trp134Arg)	CFHR5 (W134R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266609	NM_030787.4(CFHR5):c.395G>T (p.Arg132Leu)	CFHR5 (R132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251830	NM_030787.4(CFHR5):c.695T>C (p.Val232Ala)	CFHR5 (V232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250460	NM_030787.4(CFHR5):c.361del (p.Gln121fs)	CFHR5 (Q121fs)	Deletion (frameshift variant)	C3 glomerulonephritis	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3248019	NC_000001.10:g.(?_196963190)_(196967454_?)dup	CFHR5	Duplication	not provided	GUncertain significance
Select item 3237432	NM_030787.4(CFHR5):c.617G>A (p.Arg206Gln)	CFHR5 (R206Q)	Single nucleotide variant (missense variant)	CFHR5 deficiency	GUncertain significance
Select item 3143835	NM_030787.4(CFHR5):c.986A>C (p.Lys329Thr)	CFHR5 (K329T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143834	NM_030787.4(CFHR5):c.90T>A (p.His30Gln)	CFHR5 (H30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143833	NM_030787.4(CFHR5):c.538A>G (p.Ile180Val)	CFHR5 (I180V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143832	NM_030787.4(CFHR5):c.491G>A (p.Ser164Asn)	CFHR5 (S164N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143831	NM_030787.4(CFHR5):c.385T>C (p.Cys129Arg)	CFHR5 (C129R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143830	NM_030787.4(CFHR5):c.376A>C (p.Asn126His)	CFHR5 (N126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143829	NM_030787.4(CFHR5):c.248G>C (p.Cys83Ser)	CFHR5 (C83S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143828	NM_030787.4(CFHR5):c.180_181del (p.Pro62fs)	CFHR5 (P62fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3143827	NM_030787.4(CFHR5):c.1664G>C (p.Arg555Pro)	CFHR5 (R555P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3143826	NM_030787.4(CFHR5):c.1645A>G (p.Ile549Val)	CFHR5 (I549V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143825	NM_030787.4(CFHR5):c.1357C>T (p.Pro453Ser)	CFHR5 (P453S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3143824	NM_030787.4(CFHR5):c.1291T>C (p.Cys431Arg)	CFHR5 (C431R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143823	NM_030787.4(CFHR5):c.115T>C (p.Tyr39His)	CFHR5 (Y39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068775	NM_030787.4(CFHR5):c.394C>T (p.Arg132Trp)	CFHR5 (R132W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3064007	NM_030787.4(CFHR5):c.626G>A (p.Gly209Asp)	CFHR5 (G209D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063977	NM_030787.4(CFHR5):c.1331-16A>G	CFHR5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3055280	NM_030787.4(CFHR5):c.*10A>G	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFHR5-related disorder	GLikely benign
Select item 3026625	NM_030787.4(CFHR5):c.1453C>T (p.Gln485Ter)	CFHR5 (Q485*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3023447	NM_030787.4(CFHR5):c.758A>G (p.Asp253Gly)	CFHR5 (D253G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008189	NM_030787.4(CFHR5):c.1213G>A (p.Val405Met)	CFHR5 (V405M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006223	NM_030787.4(CFHR5):c.607+4A>G	CFHR5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3000819	NM_030787.4(CFHR5):c.539T>C (p.Ile180Thr)	CFHR5 (I180T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996307	NM_030787.4(CFHR5):c.419G>T (p.Cys140Phe)	CFHR5 (C140F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992054	NM_030787.4(CFHR5):c.59-15T>C	CFHR5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986112	NM_030787.4(CFHR5):c.962T>C (p.Met321Thr)	CFHR5 (M321T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980214	NM_030787.4(CFHR5):c.74T>A (p.Phe25Tyr)	CFHR5 (F25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974404	NM_030787.4(CFHR5):c.1092A>T (p.Arg364Ser)	CFHR5 (R364S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972631	NM_030787.4(CFHR5):c.1060A>G (p.Arg354Gly)	CFHR5 (R354G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963451	NM_030787.4(CFHR5):c.205C>T (p.Arg69Cys)	CFHR5 (R69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961225	NM_030787.4(CFHR5):c.1430G>A (p.Arg477His)	CFHR5 (R477H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957043	NM_030787.4(CFHR5):c.285T>C (p.Gly95=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887946	NM_030787.4(CFHR5):c.1229G>A (p.Gly410Glu)	CFHR5 (G410E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883984	NM_030787.4(CFHR5):c.700G>A (p.Glu234Lys)	CFHR5 (E234K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2881272	NM_030787.4(CFHR5):c.999A>G (p.Ile333Met)	CFHR5 (I333M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798984	NM_030787.4(CFHR5):c.911T>C (p.Ile304Thr)	CFHR5 (I304T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729378	NM_030787.4(CFHR5):c.1153dup (p.Arg385fs)	CFHR5 (R385fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2705529	NM_030787.4(CFHR5):c.475C>G (p.Gln159Glu)	CFHR5 (Q159E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2682714	NM_030787.4(CFHR5):c.1696C>T (p.Pro566Ser)	CFHR5 (P566S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682713	NM_030787.4(CFHR5):c.1615T>G (p.Phe539Val)	CFHR5 (F539V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682712	NM_030787.4(CFHR5):c.1558_1559del (p.Gln520fs)	CFHR5 (Q520fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2682711	NM_030787.4(CFHR5):c.841C>A (p.Gln281Lys)	CFHR5 (Q281K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682710	NM_030787.4(CFHR5):c.711C>A (p.Cys237Ter)	CFHR5 (C237*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2682709	NM_030787.4(CFHR5):c.703T>C (p.Tyr235His)	CFHR5 (Y235H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682708	NM_030787.4(CFHR5):c.258G>T (p.Met86Ile)	CFHR5 (M86I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682707	NM_030787.4(CFHR5):c.62C>T (p.Thr21Ile)	CFHR5 (T21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664711	NM_030787.4(CFHR5):c.1321C>T (p.Arg441Cys)	CFHR5 (R441C)	Single nucleotide variant (missense variant)	CFHR5 deficiency	GUncertain significance
Select item 2639698	NM_030787.4(CFHR5):c.394C>A (p.Arg132=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597054	NM_030787.4(CFHR5):c.71A>C (p.Asp24Ala)	CFHR5 (D24A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2574311	NM_030787.4(CFHR5):c.1487_1488del (p.Gln496fs)	CFHR5 (Q496fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2514796	NM_030787.4(CFHR5):c.1640C>T (p.Ala547Val)	CFHR5 (A547V)	Single nucleotide variant (missense variant)	CFHR5 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2514795	NM_030787.4(CFHR5):c.980A>C (p.Gln327Pro)	CFHR5 (Q327P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514771	NM_030787.4(CFHR5):c.669A>C (p.Arg223Ser)	CFHR5 (R223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439927	NM_030787.4(CFHR5):c.1686_1707del (p.Lys562fs)	CFHR5 (K562fs)	Deletion (frameshift variant)	CFHR5 deficiency	GUncertain significance
Select item 2426946	NC_000001.10:g.(?_196963190)_(196973993_?)del	CFHR5	Deletion	not provided	GLikely benign
Select item 2426945	NC_000001.10:g.(?_196946795)_(196952229_?)del	CFHR5	Deletion	not provided	GUncertain significance
Select item 2420064	NM_030787.4(CFHR5):c.1695T>C (p.Tyr565=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418637	NM_030787.4(CFHR5):c.395G>A (p.Arg132Gln)	CFHR5 (R132Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414097	NM_030787.4(CFHR5):c.751T>C (p.Cys251Arg)	CFHR5 (C251R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397779	NM_030787.4(CFHR5):c.379A>G (p.Ile127Val)	CFHR5 (I127V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397760	NM_030787.4(CFHR5):c.1597A>G (p.Thr533Ala)	CFHR5 (T533A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397706	NM_030787.4(CFHR5):c.1066C>T (p.Arg356Cys)	CFHR5 (R356C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2397702	NM_030787.4(CFHR5):c.112G>T (p.Asp38Tyr)	CFHR5 (D38Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386874	NM_030787.4(CFHR5):c.437A>G (p.Glu146Gly)	CFHR5 (E146G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375462	NM_030787.4(CFHR5):c.1604A>G (p.Asp535Gly)	CFHR5 (D535G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2373739	NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)	CFHR5 (I567V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2307244	NM_030787.4(CFHR5):c.796G>A (p.Val266Met)	CFHR5 (V266M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272948	NM_030787.4(CFHR5):c.1583A>C (p.Lys528Thr)	CFHR5 (K528T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262468	NM_030787.4(CFHR5):c.968T>C (p.Val323Ala)	CFHR5 (V323A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196953	NM_030787.4(CFHR5):c.804_805del (p.Cys269fs)	CFHR5 (C269fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2184417	NM_030787.4(CFHR5):c.1202T>C (p.Met401Thr)	CFHR5 (M401T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173391	NM_030787.4(CFHR5):c.1385C>T (p.Ser462Leu)	CFHR5 (S462L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161762	NM_030787.4(CFHR5):c.122C>G (p.Pro41Arg)	CFHR5 (P41R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2148406	NM_030787.4(CFHR5):c.431A>G (p.Lys144Arg)	CFHR5 (K144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2146011	NM_030787.4(CFHR5):c.390A>G (p.Val130=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125148	NM_030787.4(CFHR5):c.1170A>T (p.Pro390=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101059	NM_030787.4(CFHR5):c.1513+13T>C	CFHR5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084050	NM_030787.4(CFHR5):c.1535A>C (p.Glu512Ala)	CFHR5 (E512A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066804	NM_030787.4(CFHR5):c.61del (p.Thr21fs)	CFHR5 (T21fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2060540	NM_030787.4(CFHR5):c.879C>T (p.Val293=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2056269	NM_030787.4(CFHR5):c.486A>G (p.Lys162=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2031597	NM_030787.4(CFHR5):c.283G>A (p.Gly95Ser)	CFHR5 (G95S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031596	NM_030787.4(CFHR5):c.282_283insCTTCAGGACTTC (p.Asn94_Gly95insLeuGlnAspPhe)	CFHR5	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2022326	NM_030787.4(CFHR5):c.493_494delinsCT (p.Tyr165Leu)	CFHR5 (Y165L)	Indel (missense variant)	not provided	GUncertain significance

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