Related gene-specific medical variations for Gene (Select 7707) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053426	NM_021964.3(ZNF148):c.1878G>A (p.Pro626=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	ZNF148-related condition	GLikely benign
Select item 2862206	NM_021964.3(ZNF148):c.1711A>G (p.Ile571Val)	LOC126806798, ZNF148 (I529V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662777	NM_021964.3(ZNF148):c.1795G>T (p.Ala599Ser)	LOC126806798, ZNF148 (A557S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636858	NM_021964.3(ZNF148):c.1699G>A (p.Val567Met)	LOC126806798, ZNF148 (V525M +1 more)	Single nucleotide variant (missense variant)	ZNF148-related condition	GUncertain significance
Select item 2632286	NM_021964.3(ZNF148):c.2014G>C (p.Asp672His)	LOC126806798, ZNF148 (D630H +1 more)	Single nucleotide variant (missense variant)	ZNF148-related condition	GUncertain significance
Select item 2443381	NM_021964.3(ZNF148):c.1628_1640del (p.Thr543fs)	LOC126806798, ZNF148 (T501fs +1 more)	Deletion (frameshift variant)	not provided	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 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 2430001	NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)	LOC126806798, ZNF148 (S623C +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2347601	NM_021964.3(ZNF148):c.1763G>A (p.Gly588Glu)	LOC126806798, ZNF148 (G546E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1703131	NM_021964.3(ZNF148):c.2272C>T (p.Arg758Trp)	LOC126806798, ZNF148 (R716W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507969	NM_021964.3(ZNF148):c.1913C>A (p.Pro638Gln)	LOC126806798, ZNF148 (P638Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1340334	GRCh37/hg19 3q21.2(chr3:125037052-125065578)x1	ZNF148	Copy number loss	not provided	GUncertain significance
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 1049434	NM_021964.3(ZNF148):c.1871A>G (p.Asn624Ser)	LOC126806798, ZNF148 (N582S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 987124	NM_021964.3(ZNF148):c.1170_1173del (p.Leu390fs)	ZNF148 (L348fs +1 more)	Microsatellite (frameshift variant)	not provided	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 796282	NM_021964.3(ZNF148):c.1644T>C (p.Tyr548=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727958	NM_021964.3(ZNF148):c.2052G>A (p.Gln684=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713344	NM_021964.3(ZNF148):c.1974C>T (p.Ser658=)	LOC126806798, ZNF148	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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: 27