3804[HGNC] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +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	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +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	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +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	NC_000001.11:g.63322420G>T	FOXD3, FOXD3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	Autoimmune disease, susceptibility to, 1	Grisk factor
Select item 3096304	NM_012183.3(FOXD3):c.139C>A (p.Pro47Thr)	FOXD3, FOXD3-AS1 (P47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096306	NM_012183.3(FOXD3):c.149C>T (p.Pro50Leu)	FOXD3, FOXD3-AS1 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279527	NM_012183.3(FOXD3):c.191C>A (p.Ala64Glu)	FOXD3, FOXD3-AS1 (A64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096307	NM_012183.3(FOXD3):c.245C>T (p.Pro82Leu)	FOXD3, FOXD3-AS1 (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607289	NM_012183.3(FOXD3):c.257C>T (p.Ala86Val)	FOXD3, FOXD3-AS1 (A86V)	Single nucleotide variant (missense variant)	not specified	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 disorder	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 disorder	GBenign
Select item 2524265	NM_012183.3(FOXD3):c.358C>A (p.Pro120Thr)	FOXD3, FOXD3-AS1 (P120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398967	NM_012183.3(FOXD3):c.361G>A (p.Gly121Ser)	FOXD3, FOXD3-AS1 (G121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221055	NM_012183.3(FOXD3):c.395C>A (p.Pro132Gln)	FOXD3-AS1, FOXD3 (P132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274732	NM_012183.3(FOXD3):c.404C>G (p.Pro135Arg)	FOXD3, FOXD3-AS1 (P135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030321	NM_012183.3(FOXD3):c.432C>T (p.Tyr144=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	FOXD3-related disorder	GLikely benign
Select item 3279526	NM_012183.3(FOXD3):c.535A>G (p.Arg179Gly)	FOXD3, FOXD3-AS1 (R179G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 3058097	NM_012183.3(FOXD3):c.720C>T (p.His240=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	FOXD3-related disorder	GLikely benign
Select item 3096308	NM_012183.3(FOXD3):c.749C>T (p.Ala250Val)	FOXD3, FOXD3-AS1 (A250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405365	NM_012183.3(FOXD3):c.791C>G (p.Ala264Gly)	FOXD3, FOXD3-AS1 (A264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394297	NM_012183.3(FOXD3):c.797G>C (p.Gly266Ala)	FOXD3, FOXD3-AS1 (G266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279525	NM_012183.3(FOXD3):c.803C>T (p.Ala268Val)	FOXD3, FOXD3-AS1 (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227160	NM_012183.3(FOXD3):c.803C>G (p.Ala268Gly)	FOXD3, FOXD3-AS1 (A268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037990	NM_012183.3(FOXD3):c.804G>C (p.Ala268=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	FOXD3-related disorder	GLikely benign
Select item 2481863	NM_012183.3(FOXD3):c.826G>C (p.Gly276Arg)	FOXD3, FOXD3-AS1 (G276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596809	NM_012183.3(FOXD3):c.835C>A (p.Pro279Thr)	FOXD3, FOXD3-AS1 (P279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096309	NM_012183.3(FOXD3):c.842C>T (p.Ala281Val)	FOXD3, FOXD3-AS1 (A281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279524	NM_012183.3(FOXD3):c.854C>T (p.Ala285Val)	FOXD3, FOXD3-AS1 (A285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096310	NM_012183.3(FOXD3):c.859T>A (p.Ser287Thr)	FOXD3, FOXD3-AS1 (S287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508851	NM_012183.3(FOXD3):c.880G>T (p.Ala294Ser)	FOXD3, FOXD3-AS1 (A294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096311	NM_012183.3(FOXD3):c.968C>T (p.Ser323Leu)	FOXD3, FOXD3-AS1 (S323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485014	NM_012183.3(FOXD3):c.970G>A (p.Gly324Ser)	FOXD3, FOXD3-AS1 (G324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546237	NM_012183.3(FOXD3):c.982C>T (p.Arg328Cys)	FOXD3, FOXD3-AS1 (R328C)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3096299	NM_012183.3(FOXD3):c.1055C>T (p.Ala352Val)	FOXD3, FOXD3-AS1 (A352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051610	NM_012183.3(FOXD3):c.1074G>T (p.Ala358=)	FOXD3, FOXD3-AS1	Single nucleotide variant (synonymous variant)	FOXD3-related disorder	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)	not specified	GUncertain significance
Select item 3096300	NM_012183.3(FOXD3):c.1163C>T (p.Pro388Leu)	FOXD3, FOXD3-AS1 (P388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254507	NM_012183.3(FOXD3):c.1169C>G (p.Ala390Gly)	FOXD3, FOXD3-AS1 (A390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254508	NM_012183.3(FOXD3):c.1174G>A (p.Gly392Arg)	FOXD3, FOXD3-AS1 (G392R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254509	NM_012183.3(FOXD3):c.1177G>A (p.Gly393Ser)	FOXD3, FOXD3-AS1 (G393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208864	NM_012183.3(FOXD3):c.1177G>T (p.Gly393Cys)	FOXD3, FOXD3-AS1 (G393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384783	NM_012183.3(FOXD3):c.1202C>T (p.Ala401Val)	FOXD3, FOXD3-AS1 (A401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523787	NM_012183.3(FOXD3):c.1226G>A (p.Gly409Asp)	FOXD3, FOXD3-AS1 (G409D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096302	NM_012183.3(FOXD3):c.1228G>A (p.Gly410Ser)	FOXD3, FOXD3-AS1 (G410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096303	NM_012183.3(FOXD3):c.1241A>G (p.Gln414Arg)	FOXD3, FOXD3-AS1 (Q414R)	Single nucleotide variant (missense variant)	not specified	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 disorder	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)	not specified	GUncertain significance
Select item 2387902	NM_012183.3(FOXD3):c.1396G>T (p.Ala466Ser)	FOXD3 (A466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498184	NC_000001.11:g.63395673_63749318del	ALG6, DLEU2L +9 more	Deletion	Craniosynostosis syndrome	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3063221	GRCh37/hg19 1p31.3(chr1:63047044-64769540)x1	ALG6, ANGPTL3 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424083	NC_000001.10:g.(?_63090910)_(63902691_?)dup	ALG6, ATG4C +2 more	Duplication	ALG6-congenital disorder of glycosylation 1C +1 more	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565104	GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1	CACHD1, ANGPTL3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565103	GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3	KANK4, EFCAB7 +16 more	Copy number gain	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 443569	GRCh37/hg19 1p31.3(chr1:63322607-64040590)x3	ALG6, ATG4C +3 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 76