GFRA1[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic
Select item 3058306	NM_005264.8(GFRA1):c.1392A>G (p.Thr464=)	GFRA1	Single nucleotide variant (synonymous variant +1 more)	GFRA1-related disorder	GLikely benign
Select item 776768	NM_005264.8(GFRA1):c.1344G>C (p.Leu448=)	GFRA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1686971	NM_005264.8(GFRA1):c.1294del (p.Thr432fs)	GFRA1 (T311fs +2 more)	Deletion (frameshift variant +1 more)	Renal hypodysplasia/aplasia 4	GPathogenic
Select item 3034245	NM_005264.8(GFRA1):c.1251+8T>G	GFRA1	Single nucleotide variant (intron variant)	GFRA1-related disorder	GLikely benign
Select item 2561143	NM_005264.8(GFRA1):c.1229A>G (p.Asn410Ser)	GFRA1 (N405S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290636	NM_005264.8(GFRA1):c.1217A>C (p.Asn406Thr)	GFRA1 (N406T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099487	NM_005264.8(GFRA1):c.1170T>A (p.His390Gln)	GFRA1 (H269Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399538	NM_005264.8(GFRA1):c.1145G>C (p.Gly382Ala)	GFRA1 (G377A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060080	NM_005264.8(GFRA1):c.1096A>G (p.Thr366Ala)	GFRA1 (T245A +2 more)	Single nucleotide variant (missense variant)	GFRA1-related disorder	GBenign
Select item 2531368	NM_005264.8(GFRA1):c.1037G>A (p.Gly346Asp)	GFRA1 (G225D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049839	NM_005264.8(GFRA1):c.1002C>T (p.Asp334=)	GFRA1	Single nucleotide variant (synonymous variant)	GFRA1-related disorder	GBenign
Select item 3042478	NM_005264.8(GFRA1):c.880+9C>T	GFRA1	Single nucleotide variant (intron variant)	GFRA1-related disorder	GLikely benign
Select item 741776	NM_005264.8(GFRA1):c.861C>T (p.Leu287=)	GFRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493851	NM_005264.8(GFRA1):c.848C>A (p.Ala283Asp)	GFRA1 (A278D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493850	NM_005264.8(GFRA1):c.847G>A (p.Ala283Thr)	GFRA1 (A162T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736071	NM_005264.8(GFRA1):c.831T>C (p.Cys277=)	GFRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265475	NM_005264.8(GFRA1):c.804G>T (p.Gln268His)	GFRA1 (Q147H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349352	NM_005264.8(GFRA1):c.792dup (p.Thr265fs)	GFRA1 (T144fs +2 more)	Duplication (frameshift variant)	GFRA1-related disorder	GLikely pathogenic
Select item 2624337	NM_005264.8(GFRA1):c.782C>T (p.Ala261Val)	GFRA1 (A256V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 190259	NM_005264.8(GFRA1):c.779T>C (p.Leu260Pro)	GFRA1 (L255P +2 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 2347689	NM_005264.8(GFRA1):c.776G>A (p.Arg259His)	GFRA1 (R138H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038464	NM_005264.8(GFRA1):c.770+5G>T	GFRA1	Single nucleotide variant (intron variant)	GFRA1-related disorder	GLikely benign
Select item 3051155	NM_005264.8(GFRA1):c.755C>T (p.Thr252Met)	GFRA1 (T131M +2 more)	Single nucleotide variant (missense variant)	GFRA1-related disorder	GLikely benign
Select item 3099489	NM_005264.8(GFRA1):c.754A>G (p.Thr252Ala)	GFRA1 (T252A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784518	NM_005264.8(GFRA1):c.747C>T (p.Ser249=)	GFRA1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2314455	NM_005264.8(GFRA1):c.725A>G (p.Asn242Ser)	GFRA1 (N237S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686970	NM_005264.8(GFRA1):c.676C>T (p.Arg226Ter)	GFRA1 (R226* +2 more)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 4	GPathogenic
Select item 2446629	NM_005264.8(GFRA1):c.671G>A (p.Arg224Gln)	GFRA1 (R103Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281254	NM_005264.8(GFRA1):c.658G>A (p.Ala220Thr)	GFRA1 (A215T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040540	NM_005264.8(GFRA1):c.650G>A (p.Arg217Gln)	GFRA1 (R212Q +2 more)	Single nucleotide variant (missense variant)	GFRA1-related disorder	GLikely benign
Select item 3099488	NM_005264.8(GFRA1):c.633G>A (p.Met211Ile)	GFRA1 (M206I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686972	NM_005264.8(GFRA1):c.628G>T (p.Gly210Ter)	GFRA1 (G210* +2 more)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 4	GPathogenic
Select item 3281252	NM_005264.8(GFRA1):c.620A>G (p.His207Arg)	GFRA1 (H207R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492744	NM_005264.8(GFRA1):c.610C>T (p.Pro204Ser)	GFRA1 (P83S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321689	NM_005264.8(GFRA1):c.568C>T (p.Arg190Cys)	GFRA1 (R190C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060424	NM_005264.8(GFRA1):c.552C>T (p.Asn184=)	GFRA1	Single nucleotide variant (synonymous variant)	GFRA1-related disorder	GBenign
Select item 2344697	NM_005264.8(GFRA1):c.551A>G (p.Asn184Ser)	GFRA1 (N179S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749110	NM_005264.8(GFRA1):c.450A>G (p.Lys150=)	GFRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2211968	NM_005264.8(GFRA1):c.433G>C (p.Val145Leu)	GFRA1 (V145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1705592	NM_005264.8(GFRA1):c.362A>G (p.Tyr121Cys)	GFRA1 (Y121C)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 4	GUncertain significance
Select item 3281253	NM_005264.8(GFRA1):c.353A>T (p.Asp118Val)	GFRA1 (D118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620069	NM_005264.8(GFRA1):c.325A>G (p.Ser109Gly)	GFRA1 (S109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035761	NM_005264.8(GFRA1):c.282G>A (p.Lys94=)	GFRA1	Single nucleotide variant (synonymous variant)	GFRA1-related disorder	GBenign
Select item 2465626	NM_005264.8(GFRA1):c.257A>G (p.Asn86Ser)	GFRA1 (N86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328035	NM_005264.8(GFRA1):c.253T>A (p.Tyr85Asn)	GFRA1 (Y85N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2318053	NM_005264.8(GFRA1):c.200A>G (p.Glu67Gly)	GFRA1 (E67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783583	NM_005264.8(GFRA1):c.41A>C (p.Asp14Ala)	GFRA1 (D14A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3053275	NM_005264.8(GFRA1):c.41-6C>A	GFRA1	Single nucleotide variant (intron variant)	GFRA1-related disorder	GLikely benign
Select item 691404	NM_005264.8(GFRA1):c.1A>T (p.Met1Leu)	GFRA1 (M1L)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 3244903	NC_000010.10:g.(?_117823909)_(119750414_?)dup	CCDC172, EMX2 +14 more	Duplication	Microphthalmia, syndromic 11	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063153	GRCh37/hg19 10q25.3(chr10:117937548-118025491)x3	GFRA1	Copy number gain	not specified	GUncertain significance
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 80