ClinVar for Gene (Select 2676) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2618967	NM_001496.4(GFRA3):c.4G>A (p.Val2Met)	GFRA3, LOC129994728 (V2M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603048	NM_001496.4(GFRA3):c.713A>G (p.Asn238Ser)	GFRA3 (N238S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2552961	NM_001496.4(GFRA3):c.415A>G (p.Thr139Ala)	GFRA3 (T139A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2407137	NM_001496.4(GFRA3):c.306G>A (p.Met102Ile)	GFRA3 (M102I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376570	NM_001496.4(GFRA3):c.625G>C (p.Glu209Gln)	GFRA3 (E209Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314559	NM_001496.4(GFRA3):c.34C>A (p.Pro12Thr)	GFRA3, LOC129994728 (P12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298168	NM_001496.4(GFRA3):c.695G>A (p.Arg232His)	GFRA3 (R232H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254257	NM_001496.4(GFRA3):c.944G>C (p.Ser315Thr)	GFRA3 (S315T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232309	NM_001496.4(GFRA3):c.314G>A (p.Arg105Gln)	GFRA3 (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213083	NM_001496.4(GFRA3):c.371G>A (p.Arg124His)	GFRA3 (R124H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	HSPA9, IGIP +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 776066	NM_001496.4(GFRA3):c.948C>T (p.Cys316=)	GFRA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 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 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ANKHD1, ANKHD1-DT +224 more	Copy number gain	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 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	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 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: 34