ClinVar for Gene (Select 346171) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193164	NM_001109809.5(ZFP57):c.824A>G (p.Lys275Arg)	ZFP57 (K275R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193163	NM_001109809.5(ZFP57):c.527T>A (p.Phe176Tyr)	ZFP57 (F176Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193162	NM_001109809.5(ZFP57):c.480G>A (p.Met160Ile)	ZFP57 (M160I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193160	NM_001109809.5(ZFP57):c.1426C>T (p.Arg476Trp)	ZFP57 (R404W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3193159	NM_001109809.5(ZFP57):c.1276A>G (p.Arg426Gly)	ZFP57 (R354G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068094	NM_001109809.5(ZFP57):c.1582G>T (p.Glu528Ter)	ZFP57 (E456* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3068090	NM_001109809.5(ZFP57):c.226A>G (p.Thr76Ala)	ZFP57 (T4A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048727	NM_001109809.5(ZFP57):c.448C>T (p.Gln150Ter)	ZFP57 (Q150* +1 more)	Single nucleotide variant (nonsense)	Diabetes mellitus, transient neonatal, 1 +1 more	GLikely pathogenic
Select item 3006354	NM_001109809.5(ZFP57):c.570C>A (p.Leu190=)	ZFP57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894649	NM_001109809.5(ZFP57):c.637C>T (p.Arg213Trp)	ZFP57 (R141W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852939	NM_001109809.5(ZFP57):c.819G>A (p.Glu273=)	ZFP57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715601	NM_001109809.5(ZFP57):c.222G>A (p.Ser74=)	ZFP57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2665090	NM_001109809.5(ZFP57):c.751C>T (p.Arg251Cys)	ZFP57 (R179C +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 1	GUncertain significance
Select item 2656324	NM_001109809.5(ZFP57):c.758A>T (p.His253Leu)	ZFP57 (H181L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621534	NM_001109809.5(ZFP57):c.400G>A (p.Glu134Lys)	ZFP57 (E62K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621404	NM_001109809.5(ZFP57):c.785C>G (p.Ser262Cys)	ZFP57 (S190C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615748	NM_001109809.5(ZFP57):c.539G>A (p.Cys180Tyr)	ZFP57 (C180Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525094	NM_001109809.5(ZFP57):c.1181G>A (p.Ser394Asn)	ZFP57 (S322N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524755	NM_001109809.5(ZFP57):c.289C>A (p.Leu97Ile)	ZFP57 (L25I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443301	NM_001109809.5(ZFP57):c.722dup (p.Cys241fs)	ZFP57 (C169fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2428522	NM_001109809.5(ZFP57):c.352+15G>T	ZFP57	Single nucleotide variant (intron variant)	Diabetes mellitus, transient neonatal, 1	GLikely benign
Select item 2336690	NM_001109809.5(ZFP57):c.1283T>C (p.Val428Ala)	ZFP57 (V428A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326758	NM_001109809.5(ZFP57):c.1529C>A (p.Thr510Asn)	ZFP57 (T438N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301816	NM_001109809.5(ZFP57):c.469G>C (p.Ala157Pro)	ZFP57 (A157P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301815	NM_001109809.5(ZFP57):c.460T>C (p.Ser154Pro)	ZFP57 (S82P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284033	NM_001109809.5(ZFP57):c.337A>G (p.Thr113Ala)	ZFP57 (T113A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279577	NM_001109809.5(ZFP57):c.1550G>C (p.Arg517Thr)	ZFP57 (R517T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277982	NM_001109809.5(ZFP57):c.943A>G (p.Ile315Val)	ZFP57 (I243V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266219	NM_001109809.5(ZFP57):c.1339C>A (p.Leu447Ile)	ZFP57 (L375I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208414	NM_001109809.5(ZFP57):c.1112C>G (p.Ser371Cys)	ZFP57 (S371C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199169	NM_001109809.5(ZFP57):c.1585G>A (p.Ala529Thr)	ZFP57 (A457T +1 more)	Single nucleotide variant (missense variant)	ZFP57-related condition +1 more	GLikely benign
Select item 2166345	NM_001109809.5(ZFP57):c.668G>A (p.Arg223His)	ZFP57 (R223H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161728	NM_001109809.5(ZFP57):c.925G>A (p.Ala309Thr)	ZFP57 (A309T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140981	NM_001109809.5(ZFP57):c.407C>T (p.Thr136Ile)	ZFP57 (T136I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134818	NM_001109809.5(ZFP57):c.520C>T (p.Pro174Ser)	ZFP57 (P174S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129655	NM_001109809.5(ZFP57):c.144T>C (p.Asp48=)	ZFP57	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2088219	NM_001109809.5(ZFP57):c.1521G>T (p.Arg507Ser)	ZFP57 (R507S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976445	NM_001109809.5(ZFP57):c.1253G>T (p.Ser418Ile)	ZFP57 (S346I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966356	NM_001109809.5(ZFP57):c.605C>G (p.Thr202Ser)	ZFP57 (T202S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 1551941	NM_001109809.5(ZFP57):c.353-13T>C	ZFP57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1449415	NM_001109809.5(ZFP57):c.820C>T (p.Leu274Phe)	ZFP57 (L274F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448090	NM_001109809.5(ZFP57):c.666A>T (p.Arg222Ser)	ZFP57 (R150S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427447	NM_001109809.5(ZFP57):c.352+3A>G	ZFP57	Single nucleotide variant (intron variant)	ZFP57-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1402863	NM_001109809.5(ZFP57):c.22A>G (p.Ile8Val)	ZFP57 (I8V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1394640	NM_001109809.5(ZFP57):c.869A>G (p.Asn290Ser)	ZFP57 (N218S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365135	NM_001109809.5(ZFP57):c.603G>A (p.Leu201=)	ZFP57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346185	NM_001109809.5(ZFP57):c.1126G>C (p.Val376Leu)	ZFP57 (V304L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338561	NM_001109809.5(ZFP57):c.458del (p.Leu153fs)	ZFP57 (L153fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1338549	NM_001109809.5(ZFP57):c.194_197dup (p.Val67fs)	ZFP57 (V67fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1338537	NM_001109809.5(ZFP57):c.770G>A (p.Arg257Gln)	ZFP57 (R185Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1337148	NM_001109809.5(ZFP57):c.805C>T (p.Arg269Trp)	ZFP57 (R197W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1325370	NM_001109809.5(ZFP57):c.711dup (p.Lys238fs)	ZFP57 (K166fs +1 more)	Duplication (frameshift variant)	Diabetes mellitus, transient neonatal, 1	GLikely pathogenic
Select item 1323781	NM_001109809.5(ZFP57):c.133del (p.Thr45fs)	ZFP57 (T45fs)	Deletion (frameshift variant +1 more)	Diabetes mellitus, transient neonatal, 1	GPathogenic
Select item 1290020	NM_206809.4(MOG):c.*1059T>C	MOG, ZFP57	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1282811	NM_001109809.5(ZFP57):c.352+177_352+184dup	ZFP57	Microsatellite (intron variant)	not provided	GBenign
Select item 1281971	NM_001109809.5(ZFP57):c.123+25G>A	ZFP57	Single nucleotide variant (intron variant)	Diabetes mellitus, transient neonatal, 1 +1 more	GBenign
Select item 1279190	NM_001109809.5(ZFP57):c.-190A>G	ZFP57	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1273997	NM_001109809.5(ZFP57):c.353-152T>C	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271856	NM_001109809.5(ZFP57):c.123+156G>A	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251245	NM_001109809.5(ZFP57):c.-258G>T	ZFP57	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249969	NM_206809.4(MOG):c.*1108TAAA[10]	MOG, ZFP57	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1249439	NM_001109809.5(ZFP57):c.250+220T>C	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248722	NM_001109809.5(ZFP57):c.124-41T>C	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243732	NM_001109809.5(ZFP57):c.352+213T>C	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242039	NM_001109809.5(ZFP57):c.251-23T>G	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241635	NM_001109809.5(ZFP57):c.352+234del	ZFP57	Deletion (intron variant)	not provided	GBenign
Select item 1241275	NM_001109809.5(ZFP57):c.124-204G>A	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234971	NM_001109809.5(ZFP57):c.353-102C>T	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234686	NM_001109809.5(ZFP57):c.353-78C>T	ZFP57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230106	NM_001109809.5(ZFP57):c.352+212dup	ZFP57	Indel (intron variant)	not provided	GBenign
Select item 1222615	NM_001109809.5(ZFP57):c.352+232_352+234del	ZFP57	Microsatellite (intron variant)	not provided	GBenign
Select item 1179858	NM_001109809.5(ZFP57):c.-338C>G	ZFP57	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1050206	NM_001109809.5(ZFP57):c.1604A>G (p.His535Arg)	ZFP57 (H463R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 917453	NM_001109809.5(ZFP57):c.288G>C (p.Lys96Asn)	ZFP57 (K24N +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 907777	NM_001109809.5(ZFP57):c.1230G>A (p.Pro410=)	ZFP57	Single nucleotide variant (synonymous variant)	Diabetes mellitus, transient neonatal, 1	GUncertain significance
Select item 905244	NM_001109809.5(ZFP57):c.532T>C (p.Tyr178His)	ZFP57 (Y106H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 905243	NM_001109809.5(ZFP57):c.732T>C (p.Ser244=)	ZFP57	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 904452	NM_001109809.5(ZFP57):c.826C>T (p.Arg276Cys)	ZFP57 (R276C +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 1 +1 more	GUncertain significance
Select item 904451	NM_001109809.5(ZFP57):c.843C>T (p.His281=)	ZFP57	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 904450	NM_001109809.5(ZFP57):c.937A>G (p.Arg313Gly)	ZFP57 (R313G +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 1 +2 more	GBenign
Select item 904449	NM_001109809.5(ZFP57):c.1033G>C (p.Ala345Pro)	ZFP57 (A273P +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 522540	NM_001109809.5(ZFP57):c.724G>T (p.Asp242Tyr)	ZFP57 (D242Y +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 1	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 437334	NM_001109809.5(ZFP57):c.56G>A (p.Gly19Asp)	ZFP57 (G19D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 393893	GRCh37/hg19 6p22.1(chr6:29644909-29760628)x3	HLA-F, ZFP57	Copy number gain	See cases	GLikely benign
Select item 356222	NM_001109809.5(ZFP57):c.112C>T (p.Arg38Trp)	ZFP57 (R38W)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 1 +2 more	GBenign/Likely benign
Select item 356221	NM_001109809.5(ZFP57):c.277C>G (p.Leu93Val)	ZFP57 (L93V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356220	NM_001109809.5(ZFP57):c.285C>T (p.Thr95=)	ZFP57	Single nucleotide variant (synonymous variant)	ZFP57-related condition +1 more	GConflicting classifications of pathogenicity
Select item 356219	NM_001109809.5(ZFP57):c.475A>T (p.Thr159Ser)	ZFP57 (T159S +1 more)	Single nucleotide variant (missense variant)	ZFP57-related condition +4 more	GConflicting classifications of pathogenicity
Select item 356218	NM_001109809.5(ZFP57):c.491G>A (p.Arg164Gln)	ZFP57 (R164Q +1 more)	Single nucleotide variant (missense variant)	Transitory neonatal diabetes mellitus +3 more	GBenign/Likely benign
Select item 356217	NM_001109809.5(ZFP57):c.495G>A (p.Val165=)	ZFP57	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356216	NM_001109809.5(ZFP57):c.553A>G (p.Ser185Gly)	ZFP57 (S185G +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 1	GUncertain significance
Select item 356215	NM_001109809.5(ZFP57):c.749G>A (p.Arg250His)	ZFP57 (R250H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 356214	NM_001109809.5(ZFP57):c.752G>A (p.Arg251His)	ZFP57 (R251H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 356213	NM_001109809.5(ZFP57):c.798G>A (p.Lys266=)	ZFP57	Single nucleotide variant (synonymous variant)	Diabetes mellitus, transient neonatal, 1	GUncertain significance
Select item 356212	NM_001109809.5(ZFP57):c.857C>T (p.Pro286Leu)	ZFP57 (P286L +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 1	GUncertain significance

<< First< Prev

Page of 2