FOXD3-AS1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 889	NR_121634.1(FOXD3-AS1):n.39C>A	FOXD3, FOXD3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	Autoimmune disease, susceptibility to, 1	Grisk factor
Select item 2607289	NM_012183.3(FOXD3):c.257C>T (p.Ala86Val)	FOXD3, FOXD3-AS1 (A86V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029095	NM_012183.3(FOXD3):c.266G>A (p.Gly89Glu)	FOXD3, FOXD3-AS1 (G89E)	Single nucleotide variant (missense variant)	FOXD3-related condition	GUncertain significance
Select item 3037447	NM_012183.3(FOXD3):c.286G>T (p.Val96Leu)	FOXD3, FOXD3-AS1 (V96L)	Single nucleotide variant (missense variant)	FOXD3-related condition	GBenign
Select item 2524265	NM_012183.3(FOXD3):c.358C>A (p.Pro120Thr)	FOXD3, FOXD3-AS1 (P120T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398967	NM_012183.3(FOXD3):c.361G>A (p.Gly121Ser)	FOXD3, FOXD3-AS1 (G121S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221055	NM_012183.3(FOXD3):c.395C>A (p.Pro132Gln)	FOXD3-AS1, FOXD3 (P132Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274732	NM_012183.3(FOXD3):c.404C>G (p.Pro135Arg)	FOXD3, FOXD3-AS1 (P135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030321	NM_012183.3(FOXD3):c.432C>T (p.Tyr144=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	FOXD3-related condition	GLikely benign
Select item 775557	NM_012183.3(FOXD3):c.639C>T (p.Asn213=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2555057	NM_012183.3(FOXD3):c.682G>C (p.Gly228Arg)	FOXD3, FOXD3-AS1 (G228R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058097	NM_012183.3(FOXD3):c.720C>T (p.His240=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	FOXD3-related condition	GLikely benign
Select item 2405365	NM_012183.3(FOXD3):c.791C>G (p.Ala264Gly)	FOXD3, FOXD3-AS1 (A264G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394297	NM_012183.3(FOXD3):c.797G>C (p.Gly266Ala)	FOXD3-AS1, FOXD3 (G266A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227160	NM_012183.3(FOXD3):c.803C>G (p.Ala268Gly)	FOXD3-AS1, FOXD3 (A268G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037990	NM_012183.3(FOXD3):c.804G>C (p.Ala268=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	FOXD3-related condition	GLikely benign
Select item 2481863	NM_012183.3(FOXD3):c.826G>C (p.Gly276Arg)	FOXD3, FOXD3-AS1 (G276R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596809	NM_012183.3(FOXD3):c.835C>A (p.Pro279Thr)	FOXD3, FOXD3-AS1 (P279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508851	NM_012183.3(FOXD3):c.880G>T (p.Ala294Ser)	FOXD3, FOXD3-AS1 (A294S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485014	NM_012183.3(FOXD3):c.970G>A (p.Gly324Ser)	FOXD3, FOXD3-AS1 (G324S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546237	NM_012183.3(FOXD3):c.982C>T (p.Arg328Cys)	FOXD3-AS1, FOXD3 (R328C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049048	NM_012183.3(FOXD3):c.1024C>A (p.Gln342Lys)	FOXD3, FOXD3-AS1 (Q342K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555489	NM_012183.3(FOXD3):c.1037A>G (p.Asn346Ser)	FOXD3, FOXD3-AS1 (N346S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051610	NM_012183.3(FOXD3):c.1074G>T (p.Ala358=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	FOXD3-related condition	GLikely benign
Select item 2638868	NM_012183.3(FOXD3):c.1080C>G (p.Ala360=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528382	NM_012183.3(FOXD3):c.1111G>A (p.Glu371Lys)	FOXD3, FOXD3-AS1 (E371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254507	NM_012183.3(FOXD3):c.1169C>G (p.Ala390Gly)	FOXD3-AS1, FOXD3 (A390G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254508	NM_012183.3(FOXD3):c.1174G>A (p.Gly392Arg)	FOXD3, FOXD3-AS1 (G392R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254509	NM_012183.3(FOXD3):c.1177G>A (p.Gly393Ser)	FOXD3, FOXD3-AS1 (G393S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208864	NM_012183.3(FOXD3):c.1177G>T (p.Gly393Cys)	FOXD3-AS1, FOXD3 (G393C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384783	NM_012183.3(FOXD3):c.1202C>T (p.Ala401Val)	FOXD3, FOXD3-AS1 (A401V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523787	NM_012183.3(FOXD3):c.1226G>A (p.Gly409Asp)	FOXD3, FOXD3-AS1 (G409D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047999	NM_012183.3(FOXD3):c.1308G>A (p.Ser436=)	FOXD3, FOXD3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FOXD3-related condition	GLikely benign
Select item 2465837	NM_012183.3(FOXD3):c.1372C>A (p.Gln458Lys)	FOXD3, FOXD3-AS1 (Q458K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 44