FOXD2[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279519	NM_004474.4(FOXD2):c.151G>A (p.Val51Met)	FOXD2 (V51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223478	NM_004474.4(FOXD2):c.160C>G (p.His54Asp)	FOXD2 (H54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096292	NM_004474.4(FOXD2):c.188C>A (p.Ala63Asp)	FOXD2 (A63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 667745	NM_004474.4(FOXD2):c.193G>A (p.Ala65Thr)	FOXD2 (A65T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3096293	NM_004474.4(FOXD2):c.198C>G (p.Asp66Glu)	FOXD2 (D66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236719	NM_004474.4(FOXD2):c.227G>T (p.Gly76Val)	FOXD2 (G76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491611	NM_004474.4(FOXD2):c.239G>A (p.Gly80Asp)	FOXD2 (G80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260945	NM_004474.4(FOXD2):c.239G>T (p.Gly80Val)	FOXD2 (G80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096294	NM_004474.4(FOXD2):c.262C>G (p.Arg88Gly)	FOXD2 (R88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339409	NM_004474.4(FOXD2):c.268G>A (p.Ala90Thr)	FOXD2 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279520	NM_004474.4(FOXD2):c.277G>A (p.Ala93Thr)	FOXD2 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550750	NM_004474.4(FOXD2):c.307G>T (p.Ala103Ser)	FOXD2 (A103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638808	NM_004474.4(FOXD2):c.360G>A (p.Ala120=)	FOXD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096295	NM_004474.4(FOXD2):c.362C>G (p.Thr121Arg)	FOXD2 (T121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341518	NM_004474.4(FOXD2):c.498G>T (p.Glu166Asp)	FOXD2 (E166D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628375	NM_004474.4(FOXD2):c.628A>G (p.Met210Val)	FOXD2 (M210V)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2330944	NM_004474.4(FOXD2):c.748G>A (p.Ala250Thr)	FOXD2 (A250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204522	NM_004474.4(FOXD2):c.754G>C (p.Asp252His)	FOXD2 (D252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096296	NM_004474.4(FOXD2):c.760G>A (p.Gly254Ser)	FOXD2 (G254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096297	NM_004474.4(FOXD2):c.830A>G (p.Tyr277Cys)	FOXD2 (Y277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470854	NM_004474.4(FOXD2):c.854C>T (p.Ala285Val)	FOXD2 (A285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096298	NM_004474.4(FOXD2):c.892G>A (p.Ala298Thr)	FOXD2 (A298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394296	NM_004474.4(FOXD2):c.1027T>C (p.Ser343Pro)	FOXD2 (S343P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375705	NM_004474.4(FOXD2):c.1027T>G (p.Ser343Ala)	FOXD2 (S343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252907	NM_004474.4(FOXD2):c.1072G>T (p.Ala358Ser)	FOXD2 (A358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096288	NM_004474.4(FOXD2):c.1115G>A (p.Ser372Asn)	FOXD2 (S372N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543718	NM_004474.4(FOXD2):c.1129G>C (p.Gly377Arg)	FOXD2 (G377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279522	NM_004474.4(FOXD2):c.1156C>T (p.Leu386Phe)	FOXD2 (L386F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279523	NM_004474.4(FOXD2):c.1183G>T (p.Ala395Ser)	FOXD2 (A395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621051	NM_004474.4(FOXD2):c.1201G>A (p.Gly401Ser)	FOXD2 (G401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465540	NM_004474.4(FOXD2):c.1220G>A (p.Gly407Glu)	FOXD2 (G407E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326732	NM_004474.4(FOXD2):c.1291G>A (p.Gly431Ser)	FOXD2 (G431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096291	NM_004474.4(FOXD2):c.1354T>A (p.Leu452Met)	FOXD2 (L452M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279521	NM_004474.4(FOXD2):c.1441T>C (p.Ser481Pro)	FOXD2 (S481P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525929	NM_004474.4(FOXD2):c.1445G>C (p.Arg482Pro)	FOXD2 (R482P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 395572	GRCh37/hg19 1p33(chr1:47902505-47905928)x3	FOXD2	Copy number gain	See cases	Gconflicting data from submitters
Select item 394470	GRCh37/hg19 1p33(chr1:47899684-47905928)x3	FOXD2	Copy number gain	See cases	GLikely benign

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Items: 37