ClinVar for Gene (Select 26281) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +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 3056346	NM_019851.3(FGF20):c.186C>G (p.Gly62=)	FGF20	Single nucleotide variant (synonymous variant)	FGF20-related condition	GLikely benign
Select item 3056011	NM_019851.3(FGF20):c.195C>G (p.Arg65=)	FGF20	Single nucleotide variant (synonymous variant)	FGF20-related condition	GLikely benign
Select item 3055308	NM_019851.3(FGF20):c.210T>C (p.Tyr70=)	FGF20	Single nucleotide variant (synonymous variant)	FGF20-related condition	GLikely benign
Select item 3054080	NM_019851.3(FGF20):c.534C>T (p.Gly178=)	FGF20	Single nucleotide variant (synonymous variant)	FGF20-related condition	GLikely benign
Select item 3042296	NM_019851.3(FGF20):c.240G>C (p.Leu80=)	FGF20	Single nucleotide variant (synonymous variant)	FGF20-related condition	GLikely benign
Select item 3041324	NM_019851.3(FGF20):c.232C>G (p.Gln78Glu)	FGF20 (Q78E)	Single nucleotide variant (missense variant)	FGF20-related condition	GLikely benign
Select item 3041307	NM_019851.3(FGF20):c.238C>T (p.Leu80=)	FGF20	Single nucleotide variant (synonymous variant)	FGF20-related condition	GLikely benign
Select item 3033970	NM_019851.3(FGF20):c.267G>C (p.Arg89=)	FGF20	Single nucleotide variant (synonymous variant)	FGF20-related condition	GLikely benign
Select item 3033215	NM_019851.3(FGF20):c.261C>G (p.Gly87=)	FGF20	Single nucleotide variant (synonymous variant)	FGF20-related condition	GLikely benign
Select item 3002434	NM_019851.3(FGF20):c.184G>C (p.Gly62Arg)	FGF20 (G62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999987	NM_019851.3(FGF20):c.412A>G (p.Ile138Val)	FGF20 (I138V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998901	NM_019851.3(FGF20):c.393G>C (p.Glu131Asp)	FGF20 (E131D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987329	NM_019851.3(FGF20):c.391-14C>G	FGF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985501	NM_019851.3(FGF20):c.127_128delinsAA (p.Ala43Lys)	FGF20, LOC129999926 (A43K)	Indel (missense variant)	not provided	GUncertain significance
Select item 2958709	NM_019851.3(FGF20):c.151G>C (p.Gly51Arg)	FGF20, LOC129999926 (G51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907885	NM_019851.3(FGF20):c.251G>A (p.Ser84Asn)	FGF20 (S84N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887699	NM_019851.3(FGF20):c.163G>A (p.Ala55Thr)	FGF20, LOC129999926 (A55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869849	NM_019851.3(FGF20):c.546G>C (p.Lys182Asn)	FGF20 (K182N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868180	NM_019851.3(FGF20):c.88G>A (p.Ala30Thr)	FGF20 (A30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815320	NM_019851.3(FGF20):c.154C>G (p.Pro52Ala)	FGF20, LOC129999926 (P52A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811825	NM_019851.3(FGF20):c.44_52del (p.Glu15_Leu17del)	FGF20	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2811824	NM_019851.3(FGF20):c.56_80del (p.Gln19fs)	FGF20 (Q19fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2793797	NM_019851.3(FGF20):c.265C>T (p.Arg89Trp)	FGF20 (R89W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775846	NM_019851.3(FGF20):c.266G>A (p.Arg89Gln)	FGF20 (R89Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746828	NM_019851.3(FGF20):c.504A>C (p.Ala168=)	FGF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724143	NM_019851.3(FGF20):c.320T>A (p.Leu107Gln)	FGF20 (L107Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697660	NM_019851.3(FGF20):c.535G>T (p.Ala179Ser)	FGF20 (A179S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2684530	GRCh37/hg19 8p22(chr8:16438155-17255355)x3	CNOT7, FGF20 +4 more	Copy number gain	not provided	GUncertain significance
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	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2613297	NM_019851.3(FGF20):c.340G>C (p.Asp114His)	FGF20 (D114H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +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 2569796	NM_019851.3(FGF20):c.94G>A (p.Glu32Lys)	FGF20 (E32K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557108	NM_019851.3(FGF20):c.161C>T (p.Ala54Val)	FGF20, LOC129999926 (A54V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553589	NM_019851.3(FGF20):c.314T>C (p.Val105Ala)	FGF20 (V105A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543095	NM_019851.3(FGF20):c.23G>C (p.Gly8Ala)	FGF20 (G8A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493399	NM_019851.3(FGF20):c.469A>G (p.Lys157Glu)	FGF20 (K157E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485248	NM_019851.3(FGF20):c.89C>T (p.Ala30Val)	FGF20 (A30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480628	NM_019851.3(FGF20):c.464T>C (p.Ile155Thr)	FGF20 (I155T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457684	NM_019851.3(FGF20):c.623T>C (p.Leu208Pro)	FGF20 (L208P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426516	NC_000008.10:g.(?_16850399)_(17885171_?)dup	CNOT7, FGF20 +9 more	Duplication	not provided	GUncertain significance
Select item 2420458	NM_019851.3(FGF20):c.97C>A (p.Arg33=)	FGF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420456	NM_019851.3(FGF20):c.144_145delinsCA (p.Arg49Ser)	FGF20, LOC129999926 (R49S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2394092	NM_019851.3(FGF20):c.152G>A (p.Gly51Glu)	FGF20, LOC129999926 (G51E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381318	NM_019851.3(FGF20):c.466T>C (p.Tyr156His)	FGF20 (Y156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297470	NM_019851.3(FGF20):c.583G>C (p.Val195Leu)	FGF20 (V195L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290716	NM_019851.3(FGF20):c.137G>A (p.Arg46Gln)	FGF20, LOC129999926 (R46Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267057	NM_019851.3(FGF20):c.134A>G (p.Glu45Gly)	FGF20, LOC129999926 (E45G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2242196	NM_019851.3(FGF20):c.247G>C (p.Gly83Arg)	FGF20 (G83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208771	NM_019851.3(FGF20):c.447C>G (p.Asn149Lys)	FGF20 (N149K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195458	NM_019851.3(FGF20):c.59A>T (p.Gln20Leu)	FGF20 (Q20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177176	NM_019851.3(FGF20):c.616G>T (p.Asp206Tyr)	FGF20 (D206Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164168	NM_019851.3(FGF20):c.75C>T (p.Phe25=)	FGF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2100263	NM_019851.3(FGF20):c.46G>T (p.Gly16Cys)	FGF20 (G16C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084376	NM_019851.3(FGF20):c.121A>G (p.Arg41Gly)	FGF20, LOC129999926 (R41G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059402	NM_019851.3(FGF20):c.630C>T (p.Tyr210=)	FGF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053508	NM_019851.3(FGF20):c.523C>G (p.Pro175Ala)	FGF20 (P175A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2047027	NM_019851.3(FGF20):c.178C>T (p.Leu60=)	FGF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019844	NM_019851.3(FGF20):c.343_351del (p.Ser115_Leu117del)	FGF20	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1980958	NM_019851.3(FGF20):c.60G>A (p.Gln20=)	FGF20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1808254	GRCh37/hg19 8p22(chr8:16623013-16998517)x1	FGF20, MICU3	Copy number loss	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +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	ASAH1-AS1, ASH2L +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 1491102	NM_019851.3(FGF20):c.38G>A (p.Gly13Asp)	FGF20 (G13D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	CNOT7, CSGALNACT1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1289305	NM_019851.3(FGF20):c.*83G>C	FGF20	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1284084	NM_019851.3(FGF20):c.391-111C>A	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271718	NM_019851.3(FGF20):c.*165T>C	FGF20	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1269247	NM_019851.3(FGF20):c.391-309G>A	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246783	NM_019851.3(FGF20):c.144G>C (p.Ala48=)	FGF20, LOC129999926	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 2 +1 more	GBenign
Select item 1237440	NM_019851.3(FGF20):c.391-251del	FGF20	Deletion (intron variant)	not provided	GBenign
Select item 1236757	NM_019851.3(FGF20):c.391-52A>C	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236477	NM_019851.3(FGF20):c.391-297G>A	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231868	NM_019851.3(FGF20):c.102G>A (p.Pro34=)	FGF20, LOC129999926	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1231805	NM_019851.3(FGF20):c.391-215G>A	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183885	NM_019851.3(FGF20):c.391-275G>C	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179541	NM_019851.3(FGF20):c.391-228G>C	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +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 802391	NM_019851.3(FGF20):c.391-1G>A	FGF20	Single nucleotide variant (splice acceptor variant)	Renal hypodysplasia/aplasia 2	GLikely pathogenic
Select item 784125	NM_019851.3(FGF20):c.616G>A (p.Asp206Asn)	FGF20 (D206N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 753587	NM_019851.3(FGF20):c.357T>C (p.Leu119=)	FGF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745723	NM_019851.3(FGF20):c.78G>A (p.Leu26=)	FGF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736558	NM_019851.3(FGF20):c.346G>C (p.Gly116Arg)	FGF20 (G116R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733416	NM_019851.3(FGF20):c.235A>G (p.Ile79Val)	FGF20 (I79V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 708485	NM_019851.3(FGF20):c.282C>A (p.Leu94=)	FGF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687116	GRCh37/hg19 8p22(chr8:16403859-17275458)x3	CNOT7, FGF20 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686374	GRCh37/hg19 8p22(chr8:16438154-17251297)x3	CNOT7, FGF20 +4 more	Copy number gain	not provided	GUncertain significance

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