ClinVar for Gene (Select 2267) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278702	NM_004467.4(FGL1):c.563A>G (p.Tyr188Cys)	FGL1 (Y188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278701	NM_004467.4(FGL1):c.727A>T (p.Asn243Tyr)	FGL1 (N243Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278700	NM_004467.4(FGL1):c.730T>C (p.Tyr244His)	FGL1 (Y244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278699	NM_004467.4(FGL1):c.356G>C (p.Gly119Ala)	FGL1 (G119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278698	NM_004467.4(FGL1):c.671A>G (p.Gln224Arg)	FGL1 (Q224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278696	NM_004467.4(FGL1):c.608A>G (p.Asn203Ser)	FGL1 (N203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278695	NM_004467.4(FGL1):c.95G>A (p.Arg32Gln)	FGL1 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278694	NM_004467.4(FGL1):c.827C>T (p.Thr276Met)	FGL1 (T276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094858	NM_004467.4(FGL1):c.917A>G (p.Asp306Gly)	FGL1 (D306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094857	NM_004467.4(FGL1):c.899T>C (p.Met300Thr)	FGL1 (M300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094856	NM_004467.4(FGL1):c.76T>G (p.Cys26Gly)	FGL1 (C26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094855	NM_004467.4(FGL1):c.668T>G (p.Val223Gly)	FGL1 (V223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094854	NM_004467.4(FGL1):c.647C>T (p.Ala216Val)	FGL1 (A216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094853	NM_004467.4(FGL1):c.465G>T (p.Trp155Cys)	FGL1 (W155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094852	NM_004467.4(FGL1):c.415G>A (p.Asp139Asn)	FGL1 (D139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094851	NM_004467.4(FGL1):c.34A>G (p.Thr12Ala)	FGL1 (T12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094850	NM_004467.4(FGL1):c.259T>C (p.Phe87Leu)	FGL1 (F87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094848	NM_004467.4(FGL1):c.188T>G (p.Leu63Arg)	FGL1 (L63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094847	NM_004467.4(FGL1):c.151A>G (p.Ile51Val)	FGL1 (I51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094846	NM_004467.4(FGL1):c.112C>G (p.Arg38Gly)	FGL1 (R38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024712	NM_004467.4(FGL1):c.419A>T (p.Tyr140Phe)	FGL1 (Y140F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2538703	NM_004467.4(FGL1):c.735A>C (p.Glu245Asp)	FGL1 (E245D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521780	NM_004467.4(FGL1):c.118C>T (p.Leu40Phe)	FGL1 (L40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470097	NM_004467.4(FGL1):c.93G>A (p.Met31Ile)	FGL1 (M31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462750	NM_004467.4(FGL1):c.346G>A (p.Asp116Asn)	FGL1 (D116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462229	NM_004467.4(FGL1):c.481C>G (p.Leu161Val)	FGL1 (L161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426516	NC_000008.10:g.(?_16850399)_(17885171_?)dup	CNOT7, FGF20 +9 more	Duplication	not provided	GUncertain significance
Select item 2398655	NM_004467.4(FGL1):c.526C>T (p.Leu176Phe)	FGL1 (L176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394677	NM_004467.4(FGL1):c.814A>G (p.Ser272Gly)	FGL1 (S272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387255	NM_004467.4(FGL1):c.65C>T (p.Ala22Val)	FGL1 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384999	NM_004467.4(FGL1):c.726C>A (p.Asp242Glu)	FGL1 (D242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384063	NM_004467.4(FGL1):c.634G>A (p.Gly212Arg)	FGL1 (G212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382013	NM_004467.4(FGL1):c.865C>T (p.His289Tyr)	FGL1 (H289Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355642	NM_004467.4(FGL1):c.364G>A (p.Val122Ile)	FGL1 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320822	NM_004467.4(FGL1):c.197G>C (p.Gly66Ala)	FGL1 (G66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312213	NM_004467.4(FGL1):c.80C>A (p.Ala27Asp)	FGL1 (A27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263196	NM_004467.4(FGL1):c.176A>T (p.Glu59Val)	FGL1 (E59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247105	NM_004467.4(FGL1):c.550C>T (p.Arg184Cys)	FGL1 (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234675	NM_004467.4(FGL1):c.377G>A (p.Arg126Gln)	FGL1 (R126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234190	NM_004467.4(FGL1):c.710G>C (p.Trp237Ser)	FGL1 (W237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808309	GRCh37/hg19 8p22(chr8:17652372-17732164)x1	FGL1, MTUS1	Copy number loss	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527422	GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)	ASAH1, ASAH1-AS1 +17 more	Copy number gain	not specified	GUncertain significance
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	ASAH1, ASAH1-AS1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815106	GRCh37/hg19 8p22(chr8:17657220-17942959)x3	ASAH1, PCM1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815105	GRCh37/hg19 8p22(chr8:17652402-17836331)x1	PCM1, MTUS1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 784639	NM_004467.4(FGL1):c.399T>C (p.Phe133=)	FGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781118	NM_004467.4(FGL1):c.64-3C>G	FGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729683	NM_004467.4(FGL1):c.361A>T (p.Thr121Ser)	FGL1 (T121S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720656	NM_004467.4(FGL1):c.128G>A (p.Arg43Gln)	FGL1 (R43Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688797	GRCh37/hg19 8p22(chr8:17474031-17883039)x1	FGL1, MTUS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688154	GRCh37/hg19 8p22(chr8:17487884-17883260)x1	FGL1, MTUS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687534	GRCh37/hg19 8p22(chr8:17575940-18443131)x3	ASAH1, ASAH1-AS1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685944	GRCh37/hg19 8p22(chr8:17465054-17864004)x3	FGL1, MTUS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563498	GRCh37/hg19 8p22(chr8:17727733-18316952)x3	ASAH1, FGL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 503589	GRCh37/hg19 8p22(chr8:17294405-17919470)x3	ASAH1, PCM1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443620	GRCh37/hg19 8p22(chr8:17623587-18133683)x3	ASAH1, ASAH1-AS1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442555	GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3	ASAH1, ASAH1-AS1 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394721	GRCh37/hg19 8p22(chr8:16657256-17861898)x3	CNOT7, FGF20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 226192	GRCh37/hg19 8p22(chr8:17592647-17859657)	PCM1, FGL1 +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic

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