ClinVar for Gene (Select 55279) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2616723	NM_001350134.2(ZNF654):c.2179A>G (p.Ile727Val)	CGGBP1, ZNF654 (I453V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611562	NM_001350134.2(ZNF654):c.2167G>A (p.Val723Ile)	CGGBP1, ZNF654 (V449I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2609978	NM_001350134.2(ZNF654):c.1727T>C (p.Ile576Thr)	CGGBP1, ZNF654 (I29T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597345	NM_001350134.2(ZNF654):c.1706A>C (p.Lys569Thr)	CGGBP1, ZNF654 (K22T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508661	NM_001350134.2(ZNF654):c.3142G>A (p.Val1048Ile)	CGGBP1, ZNF654 (V1048I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492113	NM_001350134.2(ZNF654):c.2350T>G (p.Trp784Gly)	CGGBP1, ZNF654 (W510G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484165	NM_001350134.2(ZNF654):c.1808T>C (p.Ile603Thr)	CGGBP1, ZNF654 (I329T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344604	NM_001350134.2(ZNF654):c.1931C>T (p.Thr644Ile)	CGGBP1, ZNF654 (T370I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316799	NM_001350134.2(ZNF654):c.3075G>C (p.Gln1025His)	CGGBP1, ZNF654 (Q912H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262393	NM_001350134.2(ZNF654):c.2761T>A (p.Ser921Thr)	CGGBP1, ZNF654 (S709T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252598	NM_001350134.2(ZNF654):c.2800A>G (p.Lys934Glu)	CGGBP1, ZNF654 (K934E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341090	GRCh37/hg19 3p11.1(chr3:88159133-90502849)x1	C3orf38, CGGBP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 980019	GRCh37/hg19 3p11.2-11.1(chr3:87877640-88214146)x1	ZNF654, HTR1F +2 more	Copy number loss	not provided	GUncertain significance
Select item 562794	GRCh37/hg19 3p11.1(chr3:87969926-88963355)x3	C3orf38, CGGBP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150090	GRCh38/hg38 3p11.1(chr3:88034430-88834975)x3	C3orf38, CGGBP1 +11 more	Copy number gain	See cases	GLikely benign
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 23