ClinVar for MedGen (Select 934611) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572005	NM_021964.3(ZNF148):c.446G>A (p.Arg149His)	ZNF148 (R149H)	Single nucleotide variant (missense variant +1 more)	ZNF148-related condition +1 more	GConflicting classifications of pathogenicity
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 2438670	NM_021964.3(ZNF148):c.863G>T (p.Cys288Phe)	ZNF148 (C246F +1 more)	Single nucleotide variant (missense variant)	ZNF148-related condition +1 more	GUncertain significance
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 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 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 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 1308666	NM_021964.3(ZNF148):c.1624C>T (p.Gln542Ter)	LOC126806798, ZNF148 (Q500* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 1274027	NM_021964.3(ZNF148):c.1749G>A (p.Pro583=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1179358	NM_021964.3(ZNF148):c.*13del (p.Ter795=)	LOC126806798, ZNF148	Deletion (no sequence alteration)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more	GBenign
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 1028237	NM_021964.3(ZNF148):c.1667A>C (p.His556Pro)	LOC126806798, ZNF148 (H556P +1 more)	Single nucleotide variant (missense variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	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 807527	NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)	LOC126806798, ZNF148 (L502fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability +1 more	GPathogenic
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 547906	NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs)	LOC126806798, ZNF148 (R778fs +1 more)	Microsatellite (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 374845	NM_021964.3(ZNF148):c.1581_1582insC (p.Lys528fs)	LOC126806798, ZNF148 (K528fs +1 more)	Insertion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
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 374843	NM_021964.3(ZNF148):c.1583dup (p.Ser529fs)	ZNF148, LOC126806798 (S487fs +1 more)	Duplication (frameshift variant)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic
Select item 374842	NM_021964.3(ZNF148):c.1792A>T (p.Lys598Ter)	LOC126806798, ZNF148 (K598* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GPathogenic

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Items: 20