FRG2C[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	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 154281	GRCh38/hg38 3p12.3(chr3:75153221-76021659)x3	FRG2C, LINC00960 +17 more	Copy number gain	See cases	GLikely benign
Select item 156869	NR_031714.1(MIR1324):n.-251239_47012del	LOC129937069, LOC129937070 +8 more	Deletion	Preeclampsia +2 more	Gnot provided
Select item 149648	GRCh38/hg38 3p12.3(chr3:75422685-75744282)x1	LOC129937069, FRG2C +11 more	Copy number loss	See cases	GLikely benign
Select item 147855	GRCh38/hg38 3p12.3(chr3:75522003-75744122)x1	FRG2C, LINC00960 +5 more	Copy number loss	See cases	GBenign
Select item 152484	GRCh38/hg38 3p12.3(chr3:75654754-75742414)x3	FRG2C, LINC00960 +3 more	Copy number gain	See cases	GBenign
Select item 152464	GRCh38/hg38 3p12.3(chr3:75654754-75814049)x3	FRG2C, LINC00960 +5 more	Copy number gain	See cases	GBenign
Select item 982114	NM_001124759.5(FRG2C):c.179-112A>G	FRG2C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982115	NM_001124759.5(FRG2C):c.278A>G (p.Gln93Arg)	FRG2C (Q93R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 982116	NM_001124759.5(FRG2C):c.317T>G (p.Ile106Ser)	FRG2C (I106S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 982117	NM_001124759.5(FRG2C):c.334+93C>T	FRG2C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982118	NM_001124759.5(FRG2C):c.334+114A>G	FRG2C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982119	NM_001124759.5(FRG2C):c.359A>G (p.Asn120Ser)	FRG2C (N120S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2653973	NM_001124759.5(FRG2C):c.487C>A (p.Arg163=)	FRG2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982120	NM_001124759.5(FRG2C):c.497A>G (p.Glu166Gly)	FRG2C (E166G)	Single nucleotide variant (missense variant)	not specified	GBenign
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 1341111	GRCh37/hg19 3p12.3(chr3:74969156-77959159)x1	FRG2C, ROBO2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814457	GRCh37/hg19 3p12.3(chr3:75404228-76636256)x1	FRG2C, ROBO2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814456	GRCh37/hg19 3p12.3(chr3:75200750-76084525)x3	ROBO2, ZNF717 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	RYBP, SHQ1 +13 more	Copy number loss	See cases	GPathogenic

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Items: 26