25794[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 1423716	NM_012418.4(FSCN2):c.5C>T (p.Pro2Leu)	FSCN2 (P2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628334	NM_012418.4(FSCN2):c.6G>A (p.Pro2=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910103	NM_012418.4(FSCN2):c.8C>T (p.Thr3Met)	FSCN2 (T3M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1126729	NM_012418.4(FSCN2):c.9G>A (p.Thr3=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545039	NM_012418.4(FSCN2):c.12C>T (p.Asn4=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420210	NM_012418.4(FSCN2):c.13G>A (p.Gly5Ser)	FSCN2 (G5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349365	NM_012418.4(FSCN2):c.14G>T (p.Gly5Val)	FSCN2 (G5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966058	NM_012418.4(FSCN2):c.15C>T (p.Gly5=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368470	NM_012418.4(FSCN2):c.16C>A (p.Leu6Met)	FSCN2 (L6M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 857253	NM_012418.4(FSCN2):c.19C>T (p.His7Tyr)	FSCN2 (H7Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028481	NM_012418.4(FSCN2):c.22C>T (p.Gln8Ter)	FSCN2 (Q8*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 1912245	NM_012418.4(FSCN2):c.25G>T (p.Val9Leu)	FSCN2 (V9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461435	NM_012418.4(FSCN2):c.29T>C (p.Leu10Pro)	FSCN2 (L10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626475	NM_012418.4(FSCN2):c.30G>A (p.Leu10=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948775	NM_012418.4(FSCN2):c.33G>A (p.Lys11=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1407378	NM_012418.4(FSCN2):c.42T>G (p.Phe14Leu)	FSCN2 (F14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550018	NM_012418.4(FSCN2):c.45C>T (p.Gly15=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289847	NM_012418.4(FSCN2):c.48C>T (p.Leu16=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 100561	NM_012418.4(FSCN2):c.49G>A (p.Val17Ile)	FSCN2 (V17I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 30 +1 more	GLikely benign
Select item 1467636	NM_012418.4(FSCN2):c.52A>G (p.Asn18Asp)	FSCN2 (N18D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808334	NM_012418.4(FSCN2):c.54C>T (p.Asn18=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1982084	NM_012418.4(FSCN2):c.55G>C (p.Asp19His)	FSCN2 (D19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971078	NM_012418.4(FSCN2):c.55G>A (p.Asp19Asn)	FSCN2 (D19N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 940217	NM_012418.4(FSCN2):c.56A>T (p.Asp19Val)	FSCN2 (D19V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 935971	NM_012418.4(FSCN2):c.64C>T (p.Arg22Cys)	FSCN2 (R22C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351982	NM_012418.4(FSCN2):c.65G>A (p.Arg22His)	FSCN2 (R22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637850	NM_012418.4(FSCN2):c.72G>A (p.Leu24=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2945	NM_012418.4(FSCN2):c.72del (p.Thr25fs)	FSCN2 (T25fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2693023	NM_012418.4(FSCN2):c.77C>T (p.Ala26Val)	FSCN2 (A26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378385	NM_012418.4(FSCN2):c.87C>G (p.Phe29Leu)	FSCN2 (F29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084868	NM_012418.4(FSCN2):c.87C>T (p.Phe29=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408308	NM_012418.4(FSCN2):c.88G>A (p.Gly30Ser)	FSCN2 (G30S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1383845	NM_012418.4(FSCN2):c.88G>C (p.Gly30Arg)	FSCN2 (G30R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2114581	NM_012418.4(FSCN2):c.89G>T (p.Gly30Val)	FSCN2 (G30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971440	NM_012418.4(FSCN2):c.97G>A (p.Val33Ile)	FSCN2 (V33I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935975	NM_012418.4(FSCN2):c.101A>G (p.Asn34Ser)	FSCN2 (N34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006540	NM_012418.4(FSCN2):c.107C>T (p.Ser36Leu)	FSCN2 (S36L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934726	NM_012418.4(FSCN2):c.108G>C (p.Ser36=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1148688	NM_012418.4(FSCN2):c.108G>A (p.Ser36=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088242	NM_012418.4(FSCN2):c.120C>T (p.Leu40=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956706	NM_012418.4(FSCN2):c.129G>T (p.Lys43Asn)	FSCN2 (K43N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286516	NM_012418.4(FSCN2):c.130C>T (p.Gln44Ter)	FSCN2 (Q44*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2798075	NM_012418.4(FSCN2):c.131A>C (p.Gln44Pro)	FSCN2 (Q44P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111363	NM_012418.4(FSCN2):c.132G>A (p.Gln44=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097140	NM_012418.4(FSCN2):c.134C>G (p.Thr45Ser)	FSCN2 (T45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2757069	NM_012418.4(FSCN2):c.138G>C (p.Trp46Cys)	FSCN2 (W46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954497	NM_012418.4(FSCN2):c.138G>T (p.Trp46Cys)	FSCN2 (W46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991587	NM_012418.4(FSCN2):c.144G>A (p.Leu48=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932624	NM_012418.4(FSCN2):c.145G>A (p.Glu49Lys)	FSCN2 (E49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903755	NM_012418.4(FSCN2):c.146A>C (p.Glu49Ala)	FSCN2 (E49A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 724668	NM_012418.4(FSCN2):c.150C>T (p.Pro50=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 167104	NM_012418.4(FSCN2):c.150C>G (p.Pro50=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 840023	NM_012418.4(FSCN2):c.151G>A (p.Asp51Asn)	FSCN2 (D51N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567369	NM_012418.4(FSCN2):c.153C>T (p.Asp51=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 956029	NM_012418.4(FSCN2):c.161A>G (p.Gln54Arg)	FSCN2 (Q54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 860392	NM_012418.4(FSCN2):c.167C>T (p.Thr56Met)	FSCN2 (T56M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2846708	NM_012418.4(FSCN2):c.168G>C (p.Thr56=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437716	NM_012418.4(FSCN2):c.170C>T (p.Ala57Val)	FSCN2 (A57V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1936578	NM_012418.4(FSCN2):c.175C>T (p.Leu59=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955428	NM_012418.4(FSCN2):c.181C>T (p.Arg61Cys)	FSCN2 (R61C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 946579	NM_012418.4(FSCN2):c.182G>A (p.Arg61His)	FSCN2 (R61H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2044309	NM_012418.4(FSCN2):c.185G>A (p.Ser62Asn)	FSCN2 (S62N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786620	NM_012418.4(FSCN2):c.188G>A (p.Ser63Asn)	FSCN2 (S63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241693	NM_012418.4(FSCN2):c.193C>G (p.Leu65Val)	FSCN2 (L65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1443452	NM_012418.4(FSCN2):c.194T>C (p.Leu65Pro)	FSCN2 (L65P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061115	NM_012418.4(FSCN2):c.200G>A (p.Arg67His)	FSCN2 (R67H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536795	NM_012418.4(FSCN2):c.201C>T (p.Arg67=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 842735	NM_012418.4(FSCN2):c.209C>T (p.Ser70Leu)	FSCN2 (S70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444465	NM_012418.4(FSCN2):c.210G>A (p.Ser70=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1125569	NM_012418.4(FSCN2):c.210G>T (p.Ser70=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 954498	NM_012418.4(FSCN2):c.211G>A (p.Ala71Thr)	FSCN2 (A71T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439496	NM_012418.4(FSCN2):c.212C>T (p.Ala71Val)	FSCN2 (A71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047710	NM_012418.4(FSCN2):c.217G>A (p.Glu73Lys)	FSCN2 (E73K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496071	NM_012418.4(FSCN2):c.219G>C (p.Glu73Asp)	FSCN2 (E73D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735448	NM_012418.4(FSCN2):c.222C>T (p.Asp74=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764400	NM_012418.4(FSCN2):c.226C>A (p.Arg76Ser)	FSCN2 (R76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969654	NM_012418.4(FSCN2):c.227G>T (p.Arg76Leu)	FSCN2 (R76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836926	NM_012418.4(FSCN2):c.227G>A (p.Arg76His)	FSCN2 (R76H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1116306	NM_012418.4(FSCN2):c.228C>T (p.Arg76=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1038328	NM_012418.4(FSCN2):c.229G>A (p.Val77Met)	FSCN2 (V77M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038372	NM_012418.4(FSCN2):c.235_251del (p.Cys79fs)	FSCN2 (C79fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1431689	NM_012418.4(FSCN2):c.244G>A (p.Glu82Lys)	FSCN2 (E82K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871550	NM_012418.4(FSCN2):c.246G>A (p.Glu82=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 857132	NM_012418.4(FSCN2):c.251C>T (p.Pro84Leu)	FSCN2 (P84L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2794618	NM_012418.4(FSCN2):c.252G>C (p.Pro84=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142417	NM_012418.4(FSCN2):c.252G>A (p.Pro84=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517549	NM_012418.4(FSCN2):c.256C>T (p.Arg86Cys)	FSCN2 (R86C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2144318	NM_012418.4(FSCN2):c.257G>A (p.Arg86His)	FSCN2 (R86H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1463613	NM_012418.4(FSCN2):c.257G>T (p.Arg86Leu)	FSCN2 (R86L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019913	NM_012418.4(FSCN2):c.257del (p.Arg86fs)	FSCN2 (R86fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2820521	NM_012418.4(FSCN2):c.265C>G (p.Arg89Gly)	FSCN2 (R89G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478288	NM_012418.4(FSCN2):c.265C>T (p.Arg89Cys)	FSCN2 (R89C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446420	NM_012418.4(FSCN2):c.266G>A (p.Arg89His)	FSCN2 (R89H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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