GFRA4[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	ADAM33, ADISSP +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	MCM8, MCM8-AS1 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC130065300, LOC130065301 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	ADAM33, ADISSP +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC130065416, LOC130065417 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065331, LOC130065332 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 2229930	NM_022139.4(GFRA4):c.791C>T (p.Ala264Val)	GFRA4 (A264V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483344	NM_022139.4(GFRA4):c.702G>C (p.Gln234His)	GFRA4 (Q264H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 736462	NM_022139.4(GFRA4):c.637+9C>G	GFRA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2611429	NM_022139.4(GFRA4):c.628C>T (p.Arg210Cys)	GFRA4 (R210C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331174	NM_022139.4(GFRA4):c.515C>A (p.Thr172Asn)	GFRA4 (T172N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454533	NM_022139.4(GFRA4):c.489C>T (p.Tyr163=)	GFRA4 (R190C)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595774	NM_022139.4(GFRA4):c.458T>C (p.Leu153Pro)	GFRA4, LOC130065333 (L153P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2235008	NM_022139.4(GFRA4):c.444C>G (p.Pro148=)	GFRA4, LOC130065333 (R175G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288868	NM_022139.4(GFRA4):c.392+24C>A	GFRA4, LOC130065334 (P139Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2325280	NM_022139.4(GFRA4):c.323C>T (p.Ser108Leu)	GFRA4, LOC130065334 (S108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616694	NM_022139.4(GFRA4):c.283G>A (p.Glu95Lys)	GFRA4 (E95K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 692314	NM_022139.4(GFRA4):c.244G>C (p.Ala82Pro)	GFRA4 (A82P)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 2303258	NM_022139.4(GFRA4):c.229C>T (p.Pro77Ser)	GFRA4 (P77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373230	NM_022139.4(GFRA4):c.209G>A (p.Arg70His)	GFRA4 (R70H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469257	NM_022139.4(GFRA4):c.200C>G (p.Ala67Gly)	GFRA4 (A67G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460484	NM_022139.4(GFRA4):c.155G>T (p.Gly52Val)	GFRA4 (G52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226491	NM_022139.4(GFRA4):c.128G>C (p.Arg43Pro)	GFRA4 (R43P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346215	NM_022139.4(GFRA4):c.23C>T (p.Ala8Val)	GFRA4 (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2556735	NM_022139.4(GFRA4):c.14T>A (p.Leu5Gln)	GFRA4 (L5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062412	GRCh37/hg19 20p13(chr20:3169728-3642646)x1	ATRN, DDRGK1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADISSP, AP5S1 +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1054510	NC_000020.10:g.(?_3190178)_(3903961_?)dup	DNAAF9, GFRA4 +14 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 979728	GRCh37/hg19 20p13(chr20:3116478-4199486)x3	FASTKD5, CDC25B +20 more	Copy number gain	not provided	GUncertain significance
Select item 979727	GRCh37/hg19 20p13(chr20:3092739-4939933)x3	CDC25B, ADAM33 +25 more	Copy number gain	not provided	GUncertain significance
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADRA1D +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, AP5S1 +26 more	Copy number loss	See cases	GUncertain significance
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 253695	GRCh37/hg19 20p13(chr20:3026868-3657453)x3	DDRGK1, OXT +11 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 63