FOXD1[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3056416	NM_004472.3(FOXD1):c.1290_1295dup (p.Ala434_Ser435insAlaAla)	FOXD1	Duplication	FOXD1-related disorder	GLikely benign
Select item 3029284	NM_004472.3(FOXD1):c.1260C>T (p.Ala420=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3052425	NM_004472.3(FOXD1):c.1251C>A (p.Gly417=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3029712	NM_004472.3(FOXD1):c.1170CTCGCC[4] (p.Pro396_Val397insSerPro)	FOXD1	Microsatellite	FOXD1-related disorder	GLikely benign
Select item 3042166	NM_004472.3(FOXD1):c.1146_1160del (p.Gln383_Ala387del)	FOXD1	Deletion	FOXD1-related disorder	GBenign
Select item 511653	NM_004472.3(FOXD1):c.1143C>T (p.Ala381=)	FOXD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2602786	NM_004472.3(FOXD1):c.1005C>T (p.Gly335=)	FOXD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3037543	NM_004472.3(FOXD1):c.889_890dup (p.Ala298fs)	FOXD1 (A298fs)	Duplication (frameshift variant)	FOXD1-related disorder	GLikely benign
Select item 3029354	NM_004472.3(FOXD1):c.858G>A (p.Ala286=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3056830	NM_004472.3(FOXD1):c.798G>A (p.Pro266=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3052761	NM_004472.3(FOXD1):c.789G>C (p.Pro263=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3037053	NM_004472.3(FOXD1):c.759C>G (p.Ala253=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3036957	NM_004472.3(FOXD1):c.756A>G (p.Ala252=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3032563	NM_004472.3(FOXD1):c.744G>T (p.Ala248=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3039829	NM_004472.3(FOXD1):c.681C>A (p.Leu227=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3096287	NM_004472.3(FOXD1):c.667C>T (p.Arg223Trp)	FOXD1 (R223W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037186	NM_004472.3(FOXD1):c.612G>A (p.Glu204=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3030145	NM_004472.3(FOXD1):c.609G>C (p.Pro203=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3096286	NM_004472.3(FOXD1):c.565G>A (p.Glu189Lys)	FOXD1 (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030811	NM_004472.3(FOXD1):c.564C>G (p.Arg188=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3047224	NM_004472.3(FOXD1):c.486C>T (p.Tyr162=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 981887	NM_004472.3(FOXD1):c.415C>G (p.Leu139Val)	FOXD1 (L139V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3279518	NM_004472.3(FOXD1):c.380C>G (p.Pro127Arg)	FOXD1 (P127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317738	NM_004472.3(FOXD1):c.358A>G (p.Lys120Glu)	FOXD1 (K120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096285	NM_004472.3(FOXD1):c.349A>T (p.Ser117Cys)	FOXD1 (S117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034442	NM_004472.3(FOXD1):c.318_338del (p.Gly107_Gly113del)	FOXD1	Deletion	FOXD1-related disorder	GLikely benign
Select item 3047045	NM_004472.3(FOXD1):c.333C>A (p.Gly111=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 2550328	NM_004472.3(FOXD1):c.332G>A (p.Gly111Asp)	FOXD1 (G111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051510	NM_004472.3(FOXD1):c.324C>G (p.Gly108=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3054868	NM_004472.3(FOXD1):c.315C>T (p.Gly105=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3096284	NM_004472.3(FOXD1):c.298G>A (p.Ala100Thr)	FOXD1 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405642	NM_004472.3(FOXD1):c.280C>G (p.Pro94Ala)	FOXD1 (P94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515407	NM_004472.3(FOXD1):c.277G>A (p.Ala93Thr)	FOXD1 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039406	NM_004472.3(FOXD1):c.273C>G (p.Gly91=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3096283	NM_004472.3(FOXD1):c.265C>T (p.Pro89Ser)	FOXD1 (P89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554162	NM_004472.3(FOXD1):c.265C>A (p.Pro89Thr)	FOXD1 (P89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056198	NM_004472.3(FOXD1):c.263C>G (p.Ala88Gly)	FOXD1 (A88G)	Single nucleotide variant (missense variant)	FOXD1-related disorder	GBenign
Select item 2298555	NM_004472.3(FOXD1):c.262G>C (p.Ala88Pro)	FOXD1 (A88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045741	NM_004472.3(FOXD1):c.255C>T (p.Gly85=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3279516	NM_004472.3(FOXD1):c.248C>T (p.Ala83Val)	FOXD1 (A83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037294	NM_004472.3(FOXD1):c.237G>A (p.Leu79=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 2520715	NM_004472.3(FOXD1):c.223G>A (p.Asp75Asn)	FOXD1 (D75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593719	NM_004472.3(FOXD1):c.216G>C (p.Glu72Asp)	FOXD1 (E72D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096282	NM_004472.3(FOXD1):c.202C>A (p.Leu68Met)	FOXD1 (L68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096281	NM_004472.3(FOXD1):c.189C>G (p.Asp63Glu)	FOXD1 (D63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055836	NM_004472.3(FOXD1):c.153GCG[5] (p.Arg57del)	FOXD1 (R57del)	Microsatellite	FOXD1-related disorder	GBenign
Select item 2402168	NM_004472.3(FOXD1):c.149C>T (p.Ala50Val)	FOXD1 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456077	NM_004472.3(FOXD1):c.134G>C (p.Arg45Pro)	FOXD1 (R45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096280	NM_004472.3(FOXD1):c.118G>A (p.Gly40Ser)	FOXD1 (G40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258462	NM_004472.3(FOXD1):c.90C>G (p.Asp30Glu)	FOXD1 (D30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591663	NM_004472.3(FOXD1):c.25G>C (p.Asp9His)	FOXD1 (D9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045411	NM_004472.3(FOXD1):c.6C>T (p.Thr2=)	FOXD1	Single nucleotide variant (synonymous variant)	FOXD1-related disorder	GLikely benign
Select item 3036775	NM_004472.3(FOXD1):c.-6A>C	FOXD1	Single nucleotide variant (5 prime UTR variant)	FOXD1-related disorder	GLikely benign
Select item 3038294	NM_004472.3(FOXD1):c.-21CGC[3]	FOXD1	Microsatellite (5 prime UTR variant)	FOXD1-related disorder	GLikely benign
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 2684418	GRCh37/hg19 5q13.2-13.3(chr5:72551652-73317520)x3	ANKRA2, ARHGEF28 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 62