SCAF1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 141

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 147632	GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3	ADM5, BCL2L12 +17 more	Copy number gain	See cases	GBenign
Select item 769038	NM_021228.3(SCAF1):c.45G>C (p.Gly15=)	SCAF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710861	NM_021228.3(SCAF1):c.53G>A (p.Arg18Gln)	SCAF1 (R18Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2594262	NM_021228.3(SCAF1):c.109C>G (p.Arg37Gly)	SCAF1 (R37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158112	NM_021228.3(SCAF1):c.143A>G (p.Gln48Arg)	SCAF1 (Q48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479494	NM_021228.3(SCAF1):c.158A>T (p.Asn53Ile)	SCAF1 (N53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710946	NM_021228.3(SCAF1):c.292G>T (p.Ala98Ser)	SCAF1 (A98S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3158127	NM_021228.3(SCAF1):c.304A>G (p.Ser102Gly)	SCAF1 (S102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387693	NM_021228.3(SCAF1):c.341G>A (p.Arg114His)	SCAF1 (R114H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362112	NM_021228.3(SCAF1):c.352C>T (p.Arg118Trp)	SCAF1 (R118W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158131	NM_021228.3(SCAF1):c.413A>G (p.Asp138Gly)	SCAF1 (D138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339911	NM_021228.3(SCAF1):c.457G>T (p.Ala153Ser)	SCAF1 (A153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402370	NM_021228.3(SCAF1):c.491C>T (p.Ser164Leu)	SCAF1 (S164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486704	NM_021228.3(SCAF1):c.518G>C (p.Arg173Pro)	SCAF1 (R173P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650275	NM_021228.3(SCAF1):c.544G>A (p.Gly182Arg)	SCAF1 (G182R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650276	NM_021228.3(SCAF1):c.570C>A (p.Pro190=)	SCAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2284754	NM_021228.3(SCAF1):c.638C>T (p.Pro213Leu)	SCAF1 (P213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256930	NM_021228.3(SCAF1):c.644C>T (p.Pro215Leu)	SCAF1 (P215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482022	NM_021228.3(SCAF1):c.652C>T (p.Pro218Ser)	SCAF1 (P218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509237	NM_021228.3(SCAF1):c.665C>T (p.Ala222Val)	SCAF1 (A222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650277	NM_021228.3(SCAF1):c.670C>A (p.Arg224=)	SCAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3158132	NM_021228.3(SCAF1):c.721C>T (p.Pro241Ser)	SCAF1 (P241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316308	NM_021228.3(SCAF1):c.728C>T (p.Ala243Val)	SCAF1 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380667	NM_021228.3(SCAF1):c.785C>T (p.Ala262Val)	SCAF1 (A262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650278	NM_021228.3(SCAF1):c.813G>C (p.Glu271Asp)	SCAF1 (E271D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2272338	NM_021228.3(SCAF1):c.847G>T (p.Asp283Tyr)	SCAF1 (D283Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569514	NM_021228.3(SCAF1):c.849C>G (p.Asp283Glu)	SCAF1 (D283E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513151	NM_021228.3(SCAF1):c.961C>T (p.Arg321Cys)	SCAF1 (R321C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2332018	NM_021228.3(SCAF1):c.1004C>T (p.Thr335Met)	SCAF1 (T335M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258865	NM_021228.3(SCAF1):c.1014G>C (p.Gln338His)	SCAF1 (Q338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618998	NM_021228.3(SCAF1):c.1019A>G (p.Asp340Gly)	SCAF1 (D340G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316318	NM_021228.3(SCAF1):c.1027C>G (p.Arg343Gly)	SCAF1 (R343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158104	NM_021228.3(SCAF1):c.1052G>A (p.Arg351Gln)	SCAF1 (R351Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607652	NM_021228.3(SCAF1):c.1084T>C (p.Cys362Arg)	SCAF1 (C362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404704	NM_021228.3(SCAF1):c.1087C>T (p.Arg363Trp)	SCAF1 (R363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309058	NM_021228.3(SCAF1):c.1112T>G (p.Val371Gly)	SCAF1 (V371G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158105	NM_021228.3(SCAF1):c.1123G>A (p.Gly375Ser)	SCAF1 (G375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158106	NM_021228.3(SCAF1):c.1129G>A (p.Ala377Thr)	SCAF1 (A377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158107	NM_021228.3(SCAF1):c.1159G>A (p.Gly387Ser)	SCAF1 (G387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339914	NM_021228.3(SCAF1):c.1166C>G (p.Ser389Trp)	SCAF1 (S389W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316310	NM_021228.3(SCAF1):c.1185G>C (p.Glu395Asp)	SCAF1 (E395D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615647	NM_021228.3(SCAF1):c.1253G>C (p.Arg418Pro)	SCAF1 (R418P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316313	NM_021228.3(SCAF1):c.1271C>T (p.Ser424Leu)	SCAF1 (S424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382551	NM_021228.3(SCAF1):c.1276A>C (p.Thr426Pro)	SCAF1 (T426P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316311	NM_021228.3(SCAF1):c.1304C>T (p.Pro435Leu)	SCAF1 (P435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593961	NM_021228.3(SCAF1):c.1321C>G (p.Pro441Ala)	SCAF1 (P441A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315390	NM_021228.3(SCAF1):c.1352C>T (p.Ala451Val)	SCAF1 (A451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158109	NM_021228.3(SCAF1):c.1400C>T (p.Ala467Val)	SCAF1 (A467V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158110	NM_021228.3(SCAF1):c.1406C>T (p.Ala469Val)	SCAF1 (A469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205888	NM_021228.3(SCAF1):c.1426C>T (p.Arg476Cys)	SCAF1 (R476C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316307	NM_021228.3(SCAF1):c.1427G>A (p.Arg476His)	SCAF1 (R476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158111	NM_021228.3(SCAF1):c.1431G>T (p.Trp477Cys)	SCAF1 (W477C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316315	NM_021228.3(SCAF1):c.1444C>G (p.Leu482Val)	SCAF1 (L482V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548060	NM_021228.3(SCAF1):c.1455G>C (p.Lys485Asn)	SCAF1 (K485N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289992	NM_021228.3(SCAF1):c.1465C>G (p.Gln489Glu)	SCAF1 (Q489E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263337	NM_021228.3(SCAF1):c.1467A>C (p.Gln489His)	SCAF1 (Q489H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316321	NM_021228.3(SCAF1):c.1520C>G (p.Pro507Arg)	SCAF1 (P507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225341	NM_021228.3(SCAF1):c.1601C>T (p.Ser534Leu)	SCAF1 (S534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316319	NM_021228.3(SCAF1):c.1628C>T (p.Pro543Leu)	SCAF1 (P543L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316320	NM_021228.3(SCAF1):c.1666C>A (p.Arg556Ser)	SCAF1 (R556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316314	NM_021228.3(SCAF1):c.1667G>A (p.Arg556His)	SCAF1 (R556H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527697	NM_021228.3(SCAF1):c.1670C>T (p.Ser557Leu)	SCAF1 (S557L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250242	NM_021228.3(SCAF1):c.1711C>T (p.Arg571Cys)	SCAF1 (R571C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606262	NM_021228.3(SCAF1):c.1753C>T (p.Arg585Cys)	SCAF1 (R585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158113	NM_021228.3(SCAF1):c.1754G>A (p.Arg585His)	SCAF1 (R585H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158114	NM_021228.3(SCAF1):c.1757G>C (p.Arg586Pro)	SCAF1 (R586P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264851	NM_021228.3(SCAF1):c.1772A>C (p.Asp591Ala)	SCAF1 (D591A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464582	NM_021228.3(SCAF1):c.1780C>T (p.Arg594Cys)	SCAF1 (R594C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2221888	NM_021228.3(SCAF1):c.1790G>T (p.Ser597Ile)	SCAF1 (S597I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318356	NM_021228.3(SCAF1):c.1844C>A (p.Pro615Gln)	SCAF1 (P615Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316316	NM_021228.3(SCAF1):c.1904G>A (p.Arg635Gln)	SCAF1 (R635Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158115	NM_021228.3(SCAF1):c.2047C>T (p.Arg683Trp)	SCAF1 (R683W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543686	NM_021228.3(SCAF1):c.2098G>A (p.Ala700Thr)	SCAF1 (A700T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302639	NM_021228.3(SCAF1):c.2113A>G (p.Ile705Val)	SCAF1 (I705V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158116	NM_021228.3(SCAF1):c.2140G>A (p.Asp714Asn)	SCAF1 (D714N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284903	NM_021228.3(SCAF1):c.2152C>T (p.Pro718Ser)	SCAF1 (P718S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618217	NM_021228.3(SCAF1):c.2158C>G (p.Pro720Ala)	SCAF1 (P720A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316309	NM_021228.3(SCAF1):c.2165C>T (p.Pro722Leu)	SCAF1 (P722L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352158	NM_021228.3(SCAF1):c.2168C>T (p.Ala723Val)	SCAF1 (A723V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158118	NM_021228.3(SCAF1):c.2171C>T (p.Ser724Phe)	SCAF1 (S724F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158119	NM_021228.3(SCAF1):c.2230G>A (p.Gly744Ser)	SCAF1 (G744S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281853	NM_021228.3(SCAF1):c.2258G>A (p.Arg753His)	SCAF1 (R753H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248733	NM_021228.3(SCAF1):c.2267C>T (p.Ala756Val)	SCAF1 (A756V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250723	NM_021228.3(SCAF1):c.2272T>G (p.Ser758Ala)	SCAF1 (S758A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240842	NM_021228.3(SCAF1):c.2279C>A (p.Ser760Tyr)	SCAF1 (S760Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484692	NM_021228.3(SCAF1):c.2326G>A (p.Gly776Ser)	SCAF1 (G776S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533495	NM_021228.3(SCAF1):c.2356A>G (p.Arg786Gly)	SCAF1 (R786G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292971	NM_021228.3(SCAF1):c.2370G>T (p.Arg790Ser)	SCAF1 (R790S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316312	NM_021228.3(SCAF1):c.2386C>T (p.Arg796Trp)	SCAF1 (R796W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158120	NM_021228.3(SCAF1):c.2426C>T (p.Pro809Leu)	SCAF1 (P809L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487106	NM_021228.3(SCAF1):c.2491G>A (p.Val831Met)	SCAF1 (V831M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560176	NM_021228.3(SCAF1):c.2509G>T (p.Val837Leu)	SCAF1 (V837L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560177	NM_021228.3(SCAF1):c.2515G>A (p.Val839Met)	SCAF1 (V839M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158121	NM_021228.3(SCAF1):c.2521A>T (p.Ile841Phe)	SCAF1 (I841F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158122	NM_021228.3(SCAF1):c.2602C>G (p.Arg868Gly)	SCAF1 (R868G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681531	NM_021228.3(SCAF1):c.2646G>T (p.Arg882=)	SCAF1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2598787	NM_021228.3(SCAF1):c.2650C>A (p.Pro884Thr)	SCAF1 (P884T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158123	NM_021228.3(SCAF1):c.2729A>G (p.Lys910Arg)	SCAF1 (K910R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2