ClinVar for Gene (Select 55196) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313681	NM_018169.4(RESF1):c.4319T>G (p.Phe1440Cys)	RESF1 (F1440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313680	NM_018169.4(RESF1):c.5225G>T (p.Gly1742Val)	RESF1 (G1742V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313679	NM_018169.4(RESF1):c.3803C>G (p.Pro1268Arg)	RESF1 (P1268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313678	NM_018169.4(RESF1):c.992T>G (p.Val331Gly)	RESF1 (V331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313675	NM_018169.4(RESF1):c.491T>C (p.Met164Thr)	RESF1 (M164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313674	NM_018169.4(RESF1):c.1898A>G (p.Glu633Gly)	RESF1 (E633G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313673	NM_018169.4(RESF1):c.3837T>A (p.Phe1279Leu)	RESF1 (F1279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313672	NM_018169.4(RESF1):c.3116A>G (p.Asn1039Ser)	RESF1 (N1039S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313671	NM_018169.4(RESF1):c.881C>T (p.Thr294Ile)	RESF1 (T294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313670	NM_018169.4(RESF1):c.757G>A (p.Val253Ile)	RESF1 (V253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313669	NM_018169.4(RESF1):c.3760G>C (p.Asp1254His)	RESF1 (D1254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313668	NM_018169.4(RESF1):c.3746C>G (p.Pro1249Arg)	RESF1 (P1249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313667	NM_018169.4(RESF1):c.404C>T (p.Thr135Ile)	RESF1 (T135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313666	NM_018169.4(RESF1):c.3814C>G (p.Gln1272Glu)	RESF1 (Q1272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313664	NM_018169.4(RESF1):c.2507A>G (p.Gln836Arg)	RESF1 (Q836R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313663	NM_018169.4(RESF1):c.512C>A (p.Ser171Tyr)	RESF1 (S171Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313662	NM_018169.4(RESF1):c.4144G>A (p.Val1382Ile)	RESF1 (V1382I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313661	NM_018169.4(RESF1):c.3737G>A (p.Ser1246Asn)	RESF1 (S1246N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313660	NM_018169.4(RESF1):c.2366A>G (p.Tyr789Cys)	RESF1 (Y789C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313659	NM_018169.4(RESF1):c.2530A>G (p.Thr844Ala)	RESF1 (T844A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153114	NM_018169.4(RESF1):c.956G>A (p.Ser319Asn)	RESF1 (S319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153113	NM_018169.4(RESF1):c.83T>C (p.Leu28Ser)	RESF1 (L28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153112	NM_018169.4(RESF1):c.839C>T (p.Pro280Leu)	RESF1 (P280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153111	NM_018169.4(RESF1):c.839C>G (p.Pro280Arg)	RESF1 (P280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153109	NM_018169.4(RESF1):c.769C>T (p.Pro257Ser)	RESF1 (P257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153108	NM_018169.4(RESF1):c.5108C>G (p.Ser1703Trp)	RESF1 (S1703W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153107	NM_018169.4(RESF1):c.5060G>T (p.Arg1687Met)	RESF1 (R1687M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153106	NM_018169.4(RESF1):c.4973A>G (p.His1658Arg)	RESF1 (H1658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153105	NM_018169.4(RESF1):c.4896G>C (p.Met1632Ile)	RESF1 (M1632I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153104	NM_018169.4(RESF1):c.479A>G (p.Asp160Gly)	RESF1 (D160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153103	NM_018169.4(RESF1):c.4558A>G (p.Lys1520Glu)	RESF1 (K1520E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153102	NM_018169.4(RESF1):c.4553A>C (p.Asn1518Thr)	RESF1 (N1518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153101	NM_018169.4(RESF1):c.4547G>A (p.Gly1516Asp)	RESF1 (G1516D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153100	NM_018169.4(RESF1):c.449C>T (p.Pro150Leu)	RESF1 (P150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153099	NM_018169.4(RESF1):c.4414G>A (p.Val1472Met)	RESF1 (V1472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153098	NM_018169.4(RESF1):c.4405G>T (p.Val1469Leu)	RESF1 (V1469L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153097	NM_018169.4(RESF1):c.436G>A (p.Val146Ile)	RESF1 (V146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153096	NM_018169.4(RESF1):c.4298C>T (p.Thr1433Met)	RESF1 (T1433M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153095	NM_018169.4(RESF1):c.4298C>A (p.Thr1433Lys)	RESF1 (T1433K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153094	NM_018169.4(RESF1):c.4221A>C (p.Leu1407Phe)	RESF1 (L1407F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153092	NM_018169.4(RESF1):c.4215C>G (p.Phe1405Leu)	RESF1 (F1405L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153091	NM_018169.4(RESF1):c.4200T>G (p.Ser1400Arg)	RESF1 (S1400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153090	NM_018169.4(RESF1):c.4154T>C (p.Met1385Thr)	RESF1 (M1385T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153089	NM_018169.4(RESF1):c.4139G>A (p.Gly1380Glu)	RESF1 (G1380E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153088	NM_018169.4(RESF1):c.410C>G (p.Ser137Cys)	RESF1 (S137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153087	NM_018169.4(RESF1):c.4081A>C (p.Lys1361Gln)	RESF1 (K1361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153086	NM_018169.4(RESF1):c.4055C>A (p.Ser1352Tyr)	RESF1 (S1352Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153084	NM_018169.4(RESF1):c.3901G>A (p.Glu1301Lys)	RESF1 (E1301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153083	NM_018169.4(RESF1):c.3761A>G (p.Asp1254Gly)	RESF1 (D1254G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153082	NM_018169.4(RESF1):c.3696G>T (p.Lys1232Asn)	RESF1 (K1232N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153081	NM_018169.4(RESF1):c.3583A>T (p.Asn1195Tyr)	RESF1 (N1195Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153080	NM_018169.4(RESF1):c.3515G>A (p.Cys1172Tyr)	RESF1 (C1172Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153079	NM_018169.4(RESF1):c.3503A>G (p.Asp1168Gly)	RESF1 (D1168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153078	NM_018169.4(RESF1):c.3492C>G (p.Asp1164Glu)	RESF1 (D1164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153077	NM_018169.4(RESF1):c.3316A>G (p.Ile1106Val)	RESF1 (I1106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153076	NM_018169.4(RESF1):c.3277A>G (p.Thr1093Ala)	RESF1 (T1093A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153075	NM_018169.4(RESF1):c.3235C>G (p.Gln1079Glu)	RESF1 (Q1079E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153074	NM_018169.4(RESF1):c.3215G>A (p.Arg1072His)	RESF1 (R1072H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153072	NM_018169.4(RESF1):c.3140C>G (p.Pro1047Arg)	RESF1 (P1047R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153071	NM_018169.4(RESF1):c.3109G>A (p.Ala1037Thr)	RESF1 (A1037T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153070	NM_018169.4(RESF1):c.3085A>G (p.Ser1029Gly)	RESF1 (S1029G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153069	NM_018169.4(RESF1):c.3059T>C (p.Ile1020Thr)	RESF1 (I1020T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153068	NM_018169.4(RESF1):c.3043G>T (p.Ala1015Ser)	RESF1 (A1015S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153067	NM_018169.4(RESF1):c.3029C>T (p.Thr1010Met)	RESF1 (T1010M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153066	NM_018169.4(RESF1):c.2915A>T (p.Gln972Leu)	RESF1 (Q972L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153065	NM_018169.4(RESF1):c.2915A>G (p.Gln972Arg)	RESF1 (Q972R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153064	NM_018169.4(RESF1):c.2758A>G (p.Met920Val)	RESF1 (M920V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153062	NM_018169.4(RESF1):c.2591C>T (p.Ser864Leu)	RESF1 (S864L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153061	NM_018169.4(RESF1):c.2573A>G (p.Lys858Arg)	RESF1 (K858R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153060	NM_018169.4(RESF1):c.2564A>G (p.Asn855Ser)	RESF1 (N855S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153059	NM_018169.4(RESF1):c.2534A>C (p.Asn845Thr)	RESF1 (N845T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153058	NM_018169.4(RESF1):c.2504C>T (p.Thr835Ile)	RESF1 (T835I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153057	NM_018169.4(RESF1):c.2464G>A (p.Val822Ile)	RESF1 (V822I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153056	NM_018169.4(RESF1):c.2461C>A (p.Pro821Thr)	RESF1 (P821T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153055	NM_018169.4(RESF1):c.2234A>C (p.Tyr745Ser)	RESF1 (Y745S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153054	NM_018169.4(RESF1):c.218T>C (p.Ile73Thr)	RESF1 (I73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153053	NM_018169.4(RESF1):c.2035C>G (p.Leu679Val)	RESF1 (L679V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153052	NM_018169.4(RESF1):c.1940A>G (p.Asn647Ser)	RESF1 (N647S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153051	NM_018169.4(RESF1):c.1939A>G (p.Asn647Asp)	RESF1 (N647D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153050	NM_018169.4(RESF1):c.1906A>G (p.Ser636Gly)	RESF1 (S636G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153049	NM_018169.4(RESF1):c.1786A>G (p.Lys596Glu)	RESF1 (K596E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153048	NM_018169.4(RESF1):c.1775G>A (p.Arg592His)	RESF1 (R592H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153047	NM_018169.4(RESF1):c.1762C>T (p.Leu588Phe)	RESF1 (L588F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153046	NM_018169.4(RESF1):c.1729A>G (p.Ile577Val)	RESF1 (I577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153045	NM_018169.4(RESF1):c.1622C>T (p.Thr541Ile)	RESF1 (T541I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153044	NM_018169.4(RESF1):c.157C>A (p.Pro53Thr)	RESF1 (P53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153043	NM_018169.4(RESF1):c.1560T>G (p.His520Gln)	RESF1 (H520Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153042	NM_018169.4(RESF1):c.155A>G (p.Tyr52Cys)	RESF1 (Y52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153040	NM_018169.4(RESF1):c.1547C>G (p.Pro516Arg)	RESF1 (P516R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153039	NM_018169.4(RESF1):c.1537C>T (p.Arg513Trp)	RESF1 (R513W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153038	NM_018169.4(RESF1):c.1502A>G (p.Asp501Gly)	RESF1 (D501G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153037	NM_018169.4(RESF1):c.1480T>A (p.Cys494Ser)	RESF1 (C494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153036	NM_018169.4(RESF1):c.1432A>G (p.Thr478Ala)	RESF1 (T478A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153035	NM_018169.4(RESF1):c.1408C>T (p.Pro470Ser)	RESF1 (P470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153034	NM_018169.4(RESF1):c.1402C>G (p.Gln468Glu)	RESF1 (Q468E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153033	NM_018169.4(RESF1):c.1387G>A (p.Glu463Lys)	RESF1 (E463K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153032	NM_018169.4(RESF1):c.1065A>C (p.Arg355Ser)	RESF1 (R355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642833	NM_018169.4(RESF1):c.4002A>G (p.Leu1334=)	RESF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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