ClinVar for Gene (Select 57466) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238616	NM_020706.2(SCAF4):c.1471C>T (p.Arg491Ter)	SCAF4 (R476* +1 more)	Single nucleotide variant (nonsense)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 3158178	NM_020706.2(SCAF4):c.877G>A (p.Ala293Thr)	SCAF4 (A278T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158176	NM_020706.2(SCAF4):c.752C>G (p.Pro251Arg)	SCAF4 (P251R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3158175	NM_020706.2(SCAF4):c.649C>G (p.Pro217Ala)	SCAF4 (P202A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3158174	NM_020706.2(SCAF4):c.3440G>A (p.Arg1147His)	SCAF4 (R1147H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158173	NM_020706.2(SCAF4):c.3439C>T (p.Arg1147Cys)	SCAF4 (R1147C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3158172	NM_020706.2(SCAF4):c.3347C>T (p.Ala1116Val)	SCAF4 (A1094V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158171	NM_020706.2(SCAF4):c.3083G>A (p.Arg1028His)	SCAF4 (R1013H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158170	NM_020706.2(SCAF4):c.2831C>T (p.Pro944Leu)	SCAF4 (P922L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3158169	NM_020706.2(SCAF4):c.2491A>T (p.Thr831Ser)	SCAF4 (T831S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158168	NM_020706.2(SCAF4):c.2444C>T (p.Thr815Met)	SCAF4 (T793M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158167	NM_020706.2(SCAF4):c.2299A>G (p.Thr767Ala)	SCAF4 (T767A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3158166	NM_020706.2(SCAF4):c.1723A>G (p.Ile575Val)	SCAF4 (I575V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3158165	NM_020706.2(SCAF4):c.1669T>G (p.Tyr557Asp)	SCAF4 (Y557D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158164	NM_020706.2(SCAF4):c.1382G>A (p.Arg461His)	SCAF4 (R461H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158163	NM_020706.2(SCAF4):c.1118C>A (p.Thr373Lys)	SCAF4 (T358K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158162	NM_020706.2(SCAF4):c.1069G>A (p.Val357Ile)	SCAF4 (V342I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3147975	NM_020706.2(SCAF4):c.2209+1G>T	SCAF4	Single nucleotide variant (splice donor variant)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 3068680	NM_020706.2(SCAF4):c.3254_3257del (p.Asp1085fs)	SCAF4 (D1063fs +2 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GLikely benign
Select item 3068660	NM_020706.2(SCAF4):c.2989C>T (p.Gln997Ter)	SCAF4 (Q975* +2 more)	Single nucleotide variant (nonsense)	Complex neurodevelopmental disorder	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061099	NM_020706.2(SCAF4):c.8C>T (p.Ala3Val)	LOC130066536, SCAF4 (A3V)	Single nucleotide variant (missense variant)	SCAF4-related disorder	GUncertain significance
Select item 3043589	NM_020706.2(SCAF4):c.2209+1G>A	SCAF4	Single nucleotide variant (splice donor variant)	SCAF4-related disorder	GUncertain significance
Select item 3038324	NM_020706.2(SCAF4):c.2748T>C (p.Val916=)	SCAF4	Single nucleotide variant (synonymous variant)	SCAF4-related disorder	GBenign
Select item 3031204	NM_020706.2(SCAF4):c.2877_2888del (p.Gln963_Gln966del)	SCAF4	Deletion (inframe deletion)	SCAF4-related disorder	GUncertain significance
Select item 3030101	NM_020706.2(SCAF4):c.1322+2dup	SCAF4	Duplication (splice donor variant)	SCAF4-related disorder	GUncertain significance
Select item 2855188	NM_020706.2(SCAF4):c.980T>C (p.Met327Thr)	SCAF4 (M312T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854932	NM_020706.2(SCAF4):c.1216dup (p.Thr406fs)	SCAF4 (T391fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2804521	NM_020706.2(SCAF4):c.1489C>G (p.Gln497Glu)	SCAF4 (Q497E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775440	NM_020706.2(SCAF4):c.160-1G>A	SCAF4	Single nucleotide variant (splice acceptor variant)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 2704353	NM_020706.2(SCAF4):c.559G>C (p.Ala187Pro)	SCAF4 (A172P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692463	NM_020706.2(SCAF4):c.294T>G (p.Tyr98Ter)	SCAF4 (Y83* +1 more)	Single nucleotide variant (nonsense)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 2691851	NM_020706.2(SCAF4):c.169G>T (p.Glu57Ter)	SCAF4 (E42* +1 more)	Single nucleotide variant (nonsense)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 2685662	GRCh37/hg19 21q22.11(chr21:33102585-33158962)x1	SCAF4	Copy number loss	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2664961	NM_020706.2(SCAF4):c.1669dup (p.Tyr557fs)	SCAF4 (Y542fs +1 more)	Duplication (frameshift variant)	Fliedner-Zweier syndrome	GPathogenic
Select item 2663908	NM_020706.2(SCAF4):c.1457_1458del (p.Lys486fs)	SCAF4 (K471fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 2663246	NM_020706.2(SCAF4):c.2271C>A (p.His757Gln)	SCAF4 (H742Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652589	NM_020706.2(SCAF4):c.159+7A>C	SCAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652588	NM_020706.2(SCAF4):c.2287A>C (p.Ile763Leu)	SCAF4 (I748L +1 more)	Single nucleotide variant (missense variant)	SCAF4-related disorder +1 more	GLikely benign
Select item 2637218	NM_020706.2(SCAF4):c.3426del (p.Ala1143fs)	SCAF4 (A1121fs +2 more)	Deletion (frameshift variant)	SCAF4-related disorder	GUncertain significance
Select item 2634613	NM_020706.2(SCAF4):c.226C>G (p.Gln76Glu)	SCAF4 (Q61E +1 more)	Single nucleotide variant (missense variant)	SCAF4-related disorder	GUncertain significance
Select item 2634005	NM_020706.2(SCAF4):c.959+1G>T	SCAF4	Single nucleotide variant (splice donor variant)	SCAF4-related disorder	GLikely pathogenic
Select item 2632229	NM_020706.2(SCAF4):c.1465_1466del (p.Glu489fs)	SCAF4 (E474fs +1 more)	Microsatellite (frameshift variant)	SCAF4-related disorder	GLikely pathogenic
Select item 2628910	NM_020706.2(SCAF4):c.839_840del (p.Glu280fs)	SCAF4 (E265fs +1 more)	Microsatellite (frameshift variant)	SCAF4-related disorder	GLikely pathogenic
Select item 2624187	NM_020706.2(SCAF4):c.2986G>C (p.Asp996His)	SCAF4 (D974H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612430	NM_020706.2(SCAF4):c.740C>G (p.Ala247Gly)	SCAF4 (A247G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610970	NM_020706.2(SCAF4):c.2630C>T (p.Pro877Leu)	SCAF4 (P862L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590392	NM_020706.2(SCAF4):c.1996G>A (p.Val666Ile)	SCAF4 (V651I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2580499	NM_020706.2(SCAF4):c.1615-7G>A	SCAF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2578913	NM_020706.2(SCAF4):c.1030C>T (p.Arg344Ter)	SCAF4 (R329* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2573904	NM_020706.2(SCAF4):c.283A>G (p.Thr95Ala)	SCAF4 (T80A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572957	NM_020706.2(SCAF4):c.1672C>T (p.Arg558Cys)	SCAF4 (R543C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560816	NM_020706.2(SCAF4):c.887C>G (p.Pro296Arg)	SCAF4 (P281R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545838	NM_020706.2(SCAF4):c.1825C>T (p.Pro609Ser)	SCAF4 (P594S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2541634	NM_020706.2(SCAF4):c.1159A>C (p.Thr387Pro)	SCAF4 (T387P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539284	NM_020706.2(SCAF4):c.3178G>C (p.Glu1060Gln)	SCAF4 (E1045Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533300	NM_020706.2(SCAF4):c.3129C>G (p.His1043Gln)	SCAF4 (H1021Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529859	NM_020706.2(SCAF4):c.749C>T (p.Pro250Leu)	SCAF4 (P250L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528010	NM_020706.2(SCAF4):c.2114G>T (p.Gly705Val)	SCAF4 (G690V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507305	NM_020706.2(SCAF4):c.2705C>T (p.Pro902Leu)	SCAF4 (P880L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507174	NM_020706.2(SCAF4):c.3157T>C (p.Ser1053Pro)	SCAF4 (S1031P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502704	NM_020706.2(SCAF4):c.26A>G (p.Gln9Arg)	LOC130066536, SCAF4 (Q9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500442	NM_020706.2(SCAF4):c.1621C>G (p.Pro541Ala)	SCAF4 (P526A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491641	NM_020706.2(SCAF4):c.2464G>A (p.Val822Ile)	SCAF4 (V807I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478976	NM_020706.2(SCAF4):c.212G>A (p.Arg71Gln)	SCAF4 (R56Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2469857	NM_020706.2(SCAF4):c.860C>T (p.Thr287Met)	SCAF4 (T272M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2466624	NM_020706.2(SCAF4):c.1824G>C (p.Lys608Asn)	SCAF4 (K608N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443556	NM_020706.2(SCAF4):c.1895G>A (p.Gly632Glu)	SCAF4 (G617E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443400	NM_020706.2(SCAF4):c.1535T>C (p.Val512Ala)	SCAF4 (V497A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443343	NM_020706.2(SCAF4):c.3212_3215del (p.Glu1071fs)	SCAF4 (E1049fs +2 more)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 2443342	NM_020706.2(SCAF4):c.1463_1466del (p.Arg488fs)	SCAF4 (R473fs +1 more)	Microsatellite (frameshift variant)	See cases	GUncertain significance
Select item 2442564	NM_020706.2(SCAF4):c.2353A>G (p.Ile785Val)	SCAF4 (I770V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430991	NM_020706.2(SCAF4):c.1372C>T (p.Arg458Trp)	SCAF4 (R443W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430736	NM_020706.2(SCAF4):c.137T>C (p.Ile46Thr)	SCAF4 (I46T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2412865	NM_020706.2(SCAF4):c.2939_2944del (p.Pro980_Gln981del)	SCAF4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2382716	NM_020706.2(SCAF4):c.1648dup (p.Met550fs)	SCAF4 (M550fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2381326	NM_020706.2(SCAF4):c.2879AGC[8] (p.Gln966_Pro967insGln)	SCAF4	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 2373929	NM_020706.2(SCAF4):c.2062G>A (p.Gly688Ser)	SCAF4 (G673S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352425	NM_020706.2(SCAF4):c.3019A>G (p.Asn1007Asp)	SCAF4 (N985D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2351761	NM_020706.2(SCAF4):c.2873A>G (p.Gln958Arg)	SCAF4 (Q943R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350366	NM_020706.2(SCAF4):c.2386G>A (p.Ala796Thr)	SCAF4 (A774T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330863	NM_020706.2(SCAF4):c.1753A>G (p.Ile585Val)	SCAF4 (I570V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316804	NM_020706.2(SCAF4):c.220C>T (p.Arg74Cys)	SCAF4 (R74C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316652	NM_020706.2(SCAF4):c.2981G>A (p.Gly994Asp)	SCAF4 (G994D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308467	NM_020706.2(SCAF4):c.1236+3A>G	SCAF4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2301098	NM_020706.2(SCAF4):c.1880A>G (p.Asn627Ser)	SCAF4 (N627S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275932	NM_020706.2(SCAF4):c.1975C>G (p.Pro659Ala)	SCAF4 (P659A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271092	NM_020706.2(SCAF4):c.601-4T>C	SCAF4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2263747	NM_020706.2(SCAF4):c.1411C>T (p.Arg471Ter)	SCAF4 (R471* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2250724	NM_020706.2(SCAF4):c.979A>C (p.Met327Leu)	SCAF4 (M312L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248415	NM_020706.2(SCAF4):c.1511G>C (p.Ser504Thr)	SCAF4 (S489T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242266	NM_020706.2(SCAF4):c.1969C>T (p.Pro657Ser)	SCAF4 (P657S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231147	NM_020706.2(SCAF4):c.1054C>G (p.Pro352Ala)	SCAF4 (P337A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227100	NM_020706.2(SCAF4):c.852del (p.Val285fs)	SCAF4 (V285fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2216487	NM_020706.2(SCAF4):c.2840_2848dup (p.Gln949_Gln950insProGlnGln)	SCAF4	Duplication (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 2209039	NM_020706.2(SCAF4):c.437A>G (p.Glu146Gly)	SCAF4 (E131G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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