"Ambry Genetics"[submitter] AND "GFRA4"[gene] - ClinVar

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Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2229930	NM_022139.4(GFRA4):c.791C>T (p.Ala264Val)	GFRA4 (A264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483344	NM_022139.4(GFRA4):c.702G>C (p.Gln234His)	GFRA4 (Q264H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611429	NM_022139.4(GFRA4):c.628C>T (p.Arg210Cys)	GFRA4 (R210C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331174	NM_022139.4(GFRA4):c.515C>A (p.Thr172Asn)	GFRA4 (T172N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454533	NM_022139.4(GFRA4):c.489C>T (p.Tyr163=)	GFRA4 (R190C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2595774	NM_022139.4(GFRA4):c.458T>C (p.Leu153Pro)	GFRA4, LOC130065333 (L153P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2235008	NM_022139.4(GFRA4):c.444C>G (p.Pro148=)	GFRA4, LOC130065333 (R175G)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2288868	NM_022139.4(GFRA4):c.392+24C>A	GFRA4, LOC130065334 (P139Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099504	NM_022139.4(GFRA4):c.392+5G>C	GFRA4, LOC130065334 (A133P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099503	NM_022139.4(GFRA4):c.346T>C (p.Ser116Pro)	GFRA4, LOC130065334 (S116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325280	NM_022139.4(GFRA4):c.323C>T (p.Ser108Leu)	GFRA4, LOC130065334 (S108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616694	NM_022139.4(GFRA4):c.283G>A (p.Glu95Lys)	GFRA4 (E95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281266	NM_022139.4(GFRA4):c.230C>T (p.Pro77Leu)	GFRA4 (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303258	NM_022139.4(GFRA4):c.229C>T (p.Pro77Ser)	GFRA4 (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373230	NM_022139.4(GFRA4):c.209G>A (p.Arg70His)	GFRA4 (R70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469257	NM_022139.4(GFRA4):c.200C>G (p.Ala67Gly)	GFRA4 (A67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460484	NM_022139.4(GFRA4):c.155G>T (p.Gly52Val)	GFRA4 (G52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226491	NM_022139.4(GFRA4):c.128G>C (p.Arg43Pro)	GFRA4 (R43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099501	NM_022139.4(GFRA4):c.121C>A (p.Arg41Ser)	GFRA4 (R41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281265	NM_022139.4(GFRA4):c.50C>T (p.Ser17Leu)	GFRA4 (S17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346215	NM_022139.4(GFRA4):c.23C>T (p.Ala8Val)	GFRA4 (A8V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556735	NM_022139.4(GFRA4):c.14T>A (p.Leu5Gln)	GFRA4 (L5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22