RESF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
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 3153042	NM_018169.4(RESF1):c.155A>G (p.Tyr52Cys)	RESF1 (Y52C)	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 3153054	NM_018169.4(RESF1):c.218T>C (p.Ile73Thr)	RESF1 (I73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610993	NM_018169.4(RESF1):c.268G>A (p.Val90Ile)	RESF1 (V90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623391	NM_018169.4(RESF1):c.318C>G (p.His106Gln)	RESF1 (H106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548618	NM_018169.4(RESF1):c.334T>C (p.Ser112Pro)	RESF1 (S112P)	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 3153088	NM_018169.4(RESF1):c.410C>G (p.Ser137Cys)	RESF1 (S137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614819	NM_018169.4(RESF1):c.427G>A (p.Gly143Arg)	RESF1 (G143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 786225	NM_018169.4(RESF1):c.439C>T (p.Pro147Ser)	RESF1 (P147S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2621299	NM_018169.4(RESF1):c.461G>A (p.Ser154Asn)	RESF1 (S154N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3313675	NM_018169.4(RESF1):c.491T>C (p.Met164Thr)	RESF1 (M164T)	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 3313670	NM_018169.4(RESF1):c.757G>A (p.Val253Ile)	RESF1 (V253I)	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 2510205	NM_018169.4(RESF1):c.812C>T (p.Thr271Met)	RESF1 (T271M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3313671	NM_018169.4(RESF1):c.881C>T (p.Thr294Ile)	RESF1 (T294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544751	NM_018169.4(RESF1):c.917C>T (p.Pro306Leu)	RESF1 (P306L)	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 3313678	NM_018169.4(RESF1):c.992T>G (p.Val331Gly)	RESF1 (V331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511575	NM_018169.4(RESF1):c.996C>A (p.Ser332Arg)	RESF1 (S332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491384	NM_018169.4(RESF1):c.1001T>C (p.Ile334Thr)	RESF1 (I334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642832	NM_018169.4(RESF1):c.1023A>G (p.Lys341=)	RESF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2568670	NM_018169.4(RESF1):c.1285A>G (p.Met429Val)	RESF1 (M429V)	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 3153034	NM_018169.4(RESF1):c.1402C>G (p.Gln468Glu)	RESF1 (Q468E)	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 3153036	NM_018169.4(RESF1):c.1432A>G (p.Thr478Ala)	RESF1 (T478A)	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 3153038	NM_018169.4(RESF1):c.1502A>G (p.Asp501Gly)	RESF1 (D501G)	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 3153040	NM_018169.4(RESF1):c.1547C>G (p.Pro516Arg)	RESF1 (P516R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608030	NM_018169.4(RESF1):c.1550A>C (p.Asp517Ala)	RESF1 (D517A)	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 3153045	NM_018169.4(RESF1):c.1622C>T (p.Thr541Ile)	RESF1 (T541I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595313	NM_018169.4(RESF1):c.1690G>A (p.Val564Ile)	RESF1 (V564I)	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 3153047	NM_018169.4(RESF1):c.1762C>T (p.Leu588Phe)	RESF1 (L588F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476465	NM_018169.4(RESF1):c.1771G>A (p.Ala591Thr)	RESF1 (A591T)	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 3153049	NM_018169.4(RESF1):c.1786A>G (p.Lys596Glu)	RESF1 (K596E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540576	NM_018169.4(RESF1):c.1889A>C (p.Lys630Thr)	RESF1 (K630T)	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 3153050	NM_018169.4(RESF1):c.1906A>G (p.Ser636Gly)	RESF1 (S636G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491752	NM_018169.4(RESF1):c.1931T>C (p.Val644Ala)	RESF1 (V644A)	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 3153052	NM_018169.4(RESF1):c.1940A>G (p.Asn647Ser)	RESF1 (N647S)	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 2485314	NM_018169.4(RESF1):c.2036T>C (p.Leu679Pro)	RESF1 (L679P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513184	NM_018169.4(RESF1):c.2062G>A (p.Ala688Thr)	RESF1 (A688T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3313660	NM_018169.4(RESF1):c.2366A>G (p.Tyr789Cys)	RESF1 (Y789C)	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 3153057	NM_018169.4(RESF1):c.2464G>A (p.Val822Ile)	RESF1 (V822I)	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 3313664	NM_018169.4(RESF1):c.2507A>G (p.Gln836Arg)	RESF1 (Q836R)	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 3153059	NM_018169.4(RESF1):c.2534A>C (p.Asn845Thr)	RESF1 (N845T)	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 3153061	NM_018169.4(RESF1):c.2573A>G (p.Lys858Arg)	RESF1 (K858R)	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 2522206	NM_018169.4(RESF1):c.2657G>A (p.Ser886Asn)	RESF1 (S886N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551998	NM_018169.4(RESF1):c.2683A>G (p.Ile895Val)	RESF1 (I895V)	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 2459561	NM_018169.4(RESF1):c.2854T>C (p.Phe952Leu)	RESF1 (F952L)	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 3153067	NM_018169.4(RESF1):c.3029C>T (p.Thr1010Met)	RESF1 (T1010M)	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 3153069	NM_018169.4(RESF1):c.3059T>C (p.Ile1020Thr)	RESF1 (I1020T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3153071	NM_018169.4(RESF1):c.3109G>A (p.Ala1037Thr)	RESF1 (A1037T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3153072	NM_018169.4(RESF1):c.3140C>G (p.Pro1047Arg)	RESF1 (P1047R)	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 3153075	NM_018169.4(RESF1):c.3235C>G (p.Gln1079Glu)	RESF1 (Q1079E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610129	NM_018169.4(RESF1):c.3241A>G (p.Thr1081Ala)	RESF1 (T1081A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3153077	NM_018169.4(RESF1):c.3316A>G (p.Ile1106Val)	RESF1 (I1106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606110	NM_018169.4(RESF1):c.3320C>T (p.Thr1107Ile)	RESF1 (T1107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569683	NM_018169.4(RESF1):c.3473G>A (p.Arg1158His)	RESF1 (R1158H)	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 3153079	NM_018169.4(RESF1):c.3503A>G (p.Asp1168Gly)	RESF1 (D1168G)	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 3153081	NM_018169.4(RESF1):c.3583A>T (p.Asn1195Tyr)	RESF1 (N1195Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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