FOXD4[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 917492	NC_000009.12:g.1_190938del	FAM138C, FOXD4 +11 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 545373	NC_000009.12:g.(?_10000)_(400952_?)del	DOCK8, DOCK8-AS1 +20 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 2499644	GRCh38/hg38 9p24.3(chr9:46587-273160)	DOCK8, DOCK8-AS1 +13 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 157129	NM_207305.4(FOXD4):c.-155989_*70213dup	LOC110120718, LOC124210604 +13 more	Duplication	Normal pregnancy	Gnot provided
Select item 58437	GRCh38/hg38 9p24.3(chr9:52389-356138)x3	DOCK8, DOCK8-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 152051	GRCh38/hg38 9p24.3(chr9:62525-386070)x3	DOCK8, DOCK8-AS1 +16 more	Copy number gain	See cases	GLikely benign
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 2353983	NM_207305.5(FOXD4):c.1309G>T (p.Gly437Trp)	FOXD4 (G437W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279531	NM_207305.5(FOXD4):c.1283C>A (p.Thr428Lys)	FOXD4 (T428K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606144	NM_207305.5(FOXD4):c.1256C>A (p.Thr419Asn)	FOXD4 (T419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508885	NM_207305.5(FOXD4):c.1251G>C (p.Glu417Asp)	FOXD4 (E417D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360720	NM_207305.5(FOXD4):c.1249G>C (p.Glu417Gln)	FOXD4 (E417Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279532	NM_207305.5(FOXD4):c.1234G>T (p.Ala412Ser)	FOXD4 (A412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536740	NM_207305.5(FOXD4):c.1201G>C (p.Val401Leu)	FOXD4 (V401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096314	NM_207305.5(FOXD4):c.1181C>T (p.Ala394Val)	FOXD4 (A394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025459	NM_207305.5(FOXD4):c.1177T>G (p.Ser393Ala)	FOXD4 (S393A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408033	NM_207305.5(FOXD4):c.1168T>A (p.Ser390Thr)	FOXD4 (S390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380064	NM_207305.5(FOXD4):c.1156G>A (p.Gly386Ser)	FOXD4 (G386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096313	NM_207305.5(FOXD4):c.1147G>T (p.Ala383Ser)	FOXD4 (A383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496413	NM_207305.5(FOXD4):c.1125C>A (p.Asn375Lys)	FOXD4 (N375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559237	NM_207305.5(FOXD4):c.1093C>G (p.Gln365Glu)	FOXD4 (Q365E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357032	NM_207305.5(FOXD4):c.1091A>C (p.Gln364Pro)	FOXD4 (Q364P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279529	NM_207305.5(FOXD4):c.1057A>T (p.Ser353Cys)	FOXD4 (S353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096312	NM_207305.5(FOXD4):c.1046C>T (p.Ala349Val)	FOXD4 (A349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272154	NM_207305.5(FOXD4):c.1024C>T (p.Pro342Ser)	FOXD4 (P342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477975	NM_207305.5(FOXD4):c.988T>G (p.Ser330Ala)	FOXD4 (S330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338820	NM_207305.5(FOXD4):c.971G>A (p.Arg324Lys)	FOXD4 (R324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096322	NM_207305.5(FOXD4):c.941G>A (p.Arg314Gln)	FOXD4 (R314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342902	NM_207305.5(FOXD4):c.932G>A (p.Arg311His)	FOXD4 (R311H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096321	NM_207305.5(FOXD4):c.920C>T (p.Ala307Val)	FOXD4 (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659010	NM_207305.5(FOXD4):c.892C>T (p.His298Tyr)	FOXD4 (H298Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3096320	NM_207305.5(FOXD4):c.884G>T (p.Cys295Phe)	FOXD4 (C295F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616671	NM_207305.5(FOXD4):c.840A>C (p.Lys280Asn)	FOXD4 (K280N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495935	NM_207305.5(FOXD4):c.814C>T (p.Pro272Ser)	FOXD4 (P272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096319	NM_207305.5(FOXD4):c.664G>C (p.Ala222Pro)	FOXD4 (A222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279530	NM_207305.5(FOXD4):c.640C>T (p.Pro214Ser)	FOXD4 (P214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333569	NM_207305.5(FOXD4):c.604C>G (p.Arg202Gly)	FOXD4 (R202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468404	NM_207305.5(FOXD4):c.602A>C (p.Gln201Pro)	FOXD4 (Q201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659011	NM_207305.5(FOXD4):c.542A>G (p.Asp181Gly)	FOXD4 (D181G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517167	NM_207305.5(FOXD4):c.502G>A (p.Glu168Lys)	FOXD4 (E168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545612	NM_207305.5(FOXD4):c.500G>A (p.Arg167His)	FOXD4 (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466566	NM_207305.5(FOXD4):c.499C>T (p.Arg167Cys)	FOXD4 (R167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276578	NM_207305.5(FOXD4):c.496C>T (p.Pro166Ser)	FOXD4 (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205351	NM_207305.5(FOXD4):c.487G>C (p.Val163Leu)	FOXD4 (V163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347552	NM_207305.5(FOXD4):c.477C>A (p.Asn159Lys)	FOXD4 (N159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279533	NM_207305.5(FOXD4):c.464A>G (p.Asn155Ser)	FOXD4 (N155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096318	NM_207305.5(FOXD4):c.432G>C (p.Lys144Asn)	FOXD4 (K144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096317	NM_207305.5(FOXD4):c.409C>G (p.Arg137Gly)	FOXD4 (R137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598841	NM_207305.5(FOXD4):c.384C>A (p.Ser128Arg)	FOXD4 (S128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279535	NM_207305.5(FOXD4):c.383G>A (p.Ser128Asn)	FOXD4 (S128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096316	NM_207305.5(FOXD4):c.377C>A (p.Thr126Lys)	FOXD4 (T126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659012	NM_207305.5(FOXD4):c.274T>A (p.Ser92Thr)	FOXD4 (S92T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2523981	NM_207305.5(FOXD4):c.208A>T (p.Ile70Phe)	FOXD4 (I70F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239058	NM_207305.5(FOXD4):c.113AGG[2] (p.Glu40del)	FOXD4 (E40del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2370015	NM_207305.5(FOXD4):c.112G>A (p.Glu38Lys)	FOXD4 (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486326	NM_207305.5(FOXD4):c.96G>C (p.Glu32Asp)	FOXD4 (E32D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279534	NM_207305.5(FOXD4):c.68A>C (p.Glu23Ala)	FOXD4 (E23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538762	NM_207305.5(FOXD4):c.22C>G (p.Arg8Gly)	FOXD4 (R8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515056	NM_207305.5(FOXD4):c.4A>C (p.Asn2His)	FOXD4 (N2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394974	GRCh37/hg19 9p24.3(chr9:118241-213161)x1	DOCK8-AS1, FOXD4 +1 more	Copy number loss	See cases	GBenign
Select item 394851	GRCh37/hg19 9p24.3(chr9:118241-239426)x1	DOCK8, DOCK8-AS1 +2 more	Copy number loss	See cases	GLikely benign
Select item 394555	GRCh37/hg19 9p24.3(chr9:118241-166977)x1	FOXD4, ZNG1A	Copy number loss	See cases	GBenign/Likely benign
Select item 394554	GRCh37/hg19 9p24.3(chr9:118241-166977)x3	FOXD4, ZNG1A	Copy number gain	See cases	GBenign
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 394190	GRCh37/hg19 9p24.3(chr9:13997-118241)x3	FOXD4, WASHC1	Copy number gain	See cases	GBenign
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253580	GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1	AK3, BRD10 +40 more	Copy number loss	See cases	GPathogenic
Select item 221834	GRCh37/hg19 9p24.3(chr9:46587-262191)x3	DOCK8-AS1, FOXD4 +2 more	Copy number gain	Premature ovarian failure	GBenign

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Items: 71