Related gene-specific medical variations for Gene (Select 10472) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664043	NM_205768.3(ZBTB18):c.343A>G (p.Met115Val)	ZBTB18 (M106V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 2627035	NM_205768.3(ZBTB18):c.1009C>T (p.Arg337Trp)	ZBTB18 (R328W +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 2575946	NM_205768.3(ZBTB18):c.1361A>G (p.Lys454Arg)	ZBTB18 (K445R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2438638	NM_205768.3(ZBTB18):c.208G>A (p.Asp70Asn)	ZBTB18 (D61N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 2429450	NM_205768.3(ZBTB18):c.32A>T (p.Glu11Val)	ZBTB18 (E11V +1 more)	Single nucleotide variant (missense variant)	Developmental delay	GLikely pathogenic
Select item 1803087	NM_205768.3(ZBTB18):c.1478A>G (p.His493Arg)	ZBTB18 (H484R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 1700158	NM_205768.3(ZBTB18):c.877_881del (p.Asp293fs)	ZBTB18 (D284fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 992626	NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs)	ZBTB18 (S243fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 986934	NM_205768.3(ZBTB18):c.1174del (p.His392fs)	ZBTB18 (H383fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 980422	GRCh37/hg19 1q44(chr1:244125028-244229161)x3	ZBTB18	Copy number gain	not provided	GLikely benign
Select item 975781	NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro)	ZBTB18 (R455P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 975780	NM_205768.3(ZBTB18):c.1143C>A (p.Cys381Ter)	ZBTB18 (C372* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 623730	NM_205768.3(ZBTB18):c.1246G>A (p.Val416Ile)	ZBTB18 (V416I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 565247	GRCh37/hg19 1q44(chr1:244206222-244452976)x1	ZBTB18	Copy number loss	not provided	GUncertain significance
Select item 377090	NM_205768.3(ZBTB18):c.307A>T (p.Ile103Phe)	ZBTB18 (I103F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253915	GRCh37/hg19 1q44(chr1:244138107-244509450)x3	ZBTB18	Copy number gain	See cases	GUncertain significance