ClinVar for Gene (Select 2246) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278617	NM_000800.5(FGF1):c.140A>G (p.Asp47Gly)	FGF1 (D47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2519000	NM_000800.5(FGF1):c.218G>A (p.Ser73Asn)	FGF1 (S73N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407185	NM_000800.5(FGF1):c.268G>A (p.Gly90Ser)	FGF1 (G90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368753	NM_000800.5(FGF1):c.394T>G (p.Cys132Gly)	FGF1 (C132G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360481	NM_000800.5(FGF1):c.401G>C (p.Arg134Pro)	FGF1 (R133P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347435	NM_000800.5(FGF1):c.344A>C (p.Lys115Thr)	FGF1 (K114T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299176	NM_000800.5(FGF1):c.40G>C (p.Glu14Gln)	FGF1 (E14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786817	NM_000800.5(FGF1):c.62G>A (p.Gly21Glu)	FGF1 (G21E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563112	GRCh37/hg19 5q31.3(chr5:142068279-142786071)x3	NR3C1, FGF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCNI2, FAM13B +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146046	GRCh38/hg38 5q31.3(chr5:142643032-142900779)x3	ARHGAP26, ARHGAP26-AS1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25