GFRA3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	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
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 161581	NM_001496.4(GFRA3):c.1135C>A (p.Pro379Thr)	GFRA3 (P379T)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3281258	NM_001496.4(GFRA3):c.1133G>A (p.Arg378Lys)	GFRA3 (R378K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281261	NM_001496.4(GFRA3):c.998G>A (p.Gly333Glu)	GFRA3 (G333E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 776066	NM_001496.4(GFRA3):c.948C>T (p.Cys316=)	GFRA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2254257	NM_001496.4(GFRA3):c.944G>C (p.Ser315Thr)	GFRA3 (S315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281260	NM_001496.4(GFRA3):c.857C>A (p.Ser286Tyr)	GFRA3 (S286Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099500	NM_001496.4(GFRA3):c.776C>T (p.Pro259Leu)	GFRA3 (P259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603048	NM_001496.4(GFRA3):c.713A>G (p.Asn238Ser)	GFRA3 (N238S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298168	NM_001496.4(GFRA3):c.695G>A (p.Arg232His)	GFRA3 (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281262	NM_001496.4(GFRA3):c.635C>A (p.Ala212Glu)	GFRA3 (A212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376570	NM_001496.4(GFRA3):c.625G>C (p.Glu209Gln)	GFRA3 (E209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281263	NM_001496.4(GFRA3):c.511C>T (p.Leu171Phe)	GFRA3 (L171F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099498	NM_001496.4(GFRA3):c.505T>C (p.Cys169Arg)	GFRA3 (C169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281259	NM_001496.4(GFRA3):c.439A>G (p.Met147Val)	GFRA3 (M147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552961	NM_001496.4(GFRA3):c.415A>G (p.Thr139Ala)	GFRA3 (T139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099497	NM_001496.4(GFRA3):c.400T>C (p.Ser134Pro)	GFRA3 (S134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213083	NM_001496.4(GFRA3):c.371G>A (p.Arg124His)	GFRA3 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232309	NM_001496.4(GFRA3):c.314G>A (p.Arg105Gln)	GFRA3 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407137	NM_001496.4(GFRA3):c.306G>A (p.Met102Ile)	GFRA3 (M102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314559	NM_001496.4(GFRA3):c.34C>A (p.Pro12Thr)	GFRA3, LOC129994728 (P12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281264	NM_001496.4(GFRA3):c.20C>T (p.Pro7Leu)	GFRA3, LOC129994728 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618967	NM_001496.4(GFRA3):c.4G>A (p.Val2Met)	GFRA3, LOC129994728 (V2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	APBB3, BRD8 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41