ZNF148[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235720	NM_021964.3(ZNF148):c.1555G>C (p.Glu519Gln)	ZNF148 (E477Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744276	NM_021964.3(ZNF148):c.1542G>A (p.Thr514=)	ZNF148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 666563	NM_021964.3(ZNF148):c.1504C>T (p.Gln502Ter)	ZNF148 (Q460* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 3194092	NM_021964.3(ZNF148):c.1474G>A (p.Gly492Ser)	ZNF148 (G450S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634695	NM_021964.3(ZNF148):c.1471G>A (p.Val491Met)	ZNF148 (V449M +1 more)	Single nucleotide variant (missense variant)	ZNF148-related disorder	GUncertain significance
Select item 2577929	NM_021964.3(ZNF148):c.1456G>T (p.Glu486Ter)	ZNF148 (E444* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 778109	NM_021964.3(ZNF148):c.1377T>C (p.His459=)	ZNF148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2357461	NM_021964.3(ZNF148):c.1376A>C (p.His459Pro)	ZNF148 (H417P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208510	NM_021964.3(ZNF148):c.1363A>G (p.Ser455Gly)	ZNF148 (S413G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1698700	NM_021964.3(ZNF148):c.1268C>A (p.Ser423Ter)	ZNF148 (S381* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 1701964	NM_021964.3(ZNF148):c.1195_1199del (p.Arg399fs)	ZNF148 (R357fs +1 more)	Deletion (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 624226	NM_021964.3(ZNF148):c.1191_1194del (p.Ser397fs)	ZNF148 (S397fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986040	NM_021964.3(ZNF148):c.1188del (p.Asn396fs)	ZNF148 (N354fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 987124	NM_021964.3(ZNF148):c.1170_1173del (p.Leu390fs)	ZNF148 (L348fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1176790	NM_021964.3(ZNF148):c.1118T>C (p.Val373Ala)	ZNF148 (V331A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732644	NM_021964.3(ZNF148):c.1113G>A (p.Ser371=)	ZNF148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2208055	NM_021964.3(ZNF148):c.1112C>T (p.Ser371Leu)	ZNF148 (S329L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492395	NM_021964.3(ZNF148):c.1031A>G (p.Asp344Gly)	ZNF148 (D302G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445896	NM_021964.3(ZNF148):c.997T>G (p.Leu333Val)	ZNF148 (L291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 374844	NM_021964.3(ZNF148):c.970dup (p.Ser324fs)	ZNF148 (S282fs +1 more)	Duplication (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 872599	NM_021964.3(ZNF148):c.969dup (p.Ser324fs)	ZNF148 (S282fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 735319	NM_021964.3(ZNF148):c.959C>T (p.Thr320Met)	ZNF148 (T320M +1 more)	Single nucleotide variant (missense variant)	ZNF148-related disorder +1 more	GLikely benign
Select item 2438670	NM_021964.3(ZNF148):c.863G>T (p.Cys288Phe)	ZNF148 (C246F +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more	GUncertain significance
Select item 2206156	NM_021964.3(ZNF148):c.857A>G (p.Asn286Ser)	ZNF148 (N286S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807528	NM_021964.3(ZNF148):c.845A>G (p.Asp282Gly)	ZNF148 (D282G +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 721486	NM_021964.3(ZNF148):c.810A>G (p.Val270=)	ZNF148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2438669	NM_021964.3(ZNF148):c.799A>C (p.Thr267Pro)	ZNF148 (T225P +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 1685478	NM_021964.3(ZNF148):c.734A>G (p.His245Arg)	ZNF148 (H203R +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 3048390	NM_021964.3(ZNF148):c.615C>T (p.Asp205=)	ZNF148	Single nucleotide variant (synonymous variant)	ZNF148-related disorder	GLikely benign
Select item 2320368	NM_021964.3(ZNF148):c.530A>G (p.Asn177Ser)	ZNF148 (N135S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254943	NM_021964.3(ZNF148):c.528C>A (p.Cys176Ter)	ZNF148 (C134* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 3055455	NM_021964.3(ZNF148):c.460-9_460-8dup	ZNF148	Duplication (intron variant)	ZNF148-related disorder	GBenign
Select item 2572005	NM_021964.3(ZNF148):c.446G>A (p.Arg149His)	ZNF148 (R149H)	Single nucleotide variant (missense variant +1 more)	ZNF148-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1033991	NM_021964.3(ZNF148):c.445C>T (p.Arg149Cys)	ZNF148 (R149C)	Single nucleotide variant (missense variant +1 more)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 1433494	NM_021964.3(ZNF148):c.319G>A (p.Ala107Thr)	ZNF148 (A107T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3194094	NM_021964.3(ZNF148):c.293A>C (p.Glu98Ala)	ZNF148 (E98A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233582	NM_021964.3(ZNF148):c.276G>A (p.Glu92=)	ZNF148	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2175560	NM_021964.3(ZNF148):c.248A>T (p.His83Leu)	ZNF148 (H83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233498	NM_021964.3(ZNF148):c.220A>G (p.Met74Val)	ZNF148 (M74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438671	NM_021964.3(ZNF148):c.123G>C (p.Glu41Asp)	ZNF148 (E41D)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GUncertain significance
Select item 736953	NM_021964.3(ZNF148):c.119G>C (p.Gly40Ala)	ZNF148 (G40A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3334991	NM_021964.3(ZNF148):c.8T>C (p.Ile3Thr)	ZNF148 (I3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1340334	GRCh37/hg19 3q21.2(chr3:125037052-125065578)x1	ZNF148	Copy number loss	not provided	GUncertain significance

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Items: 43