ClinVar for Gene (Select 2307) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096634	NM_004118.4(FOXS1):c.751C>T (p.Arg251Trp)	FOXS1 (R251W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096633	NM_004118.4(FOXS1):c.733G>A (p.Gly245Arg)	FOXS1 (G245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096632	NM_004118.4(FOXS1):c.682G>A (p.Glu228Lys)	FOXS1 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096631	NM_004118.4(FOXS1):c.554G>T (p.Arg185Met)	FOXS1 (R185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096630	NM_004118.4(FOXS1):c.514G>A (p.Ala172Thr)	FOXS1 (A172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096629	NM_004118.4(FOXS1):c.478G>C (p.Asp160His)	FOXS1 (D160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096628	NM_004118.4(FOXS1):c.391C>T (p.Arg131Cys)	FOXS1 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096627	NM_004118.4(FOXS1):c.367A>G (p.Thr123Ala)	FOXS1 (T123A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096626	NM_004118.4(FOXS1):c.346C>T (p.Arg116Trp)	FOXS1 (R116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096625	NM_004118.4(FOXS1):c.197T>G (p.Ile66Ser)	FOXS1 (I66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096624	NM_004118.4(FOXS1):c.181G>A (p.Gly61Ser)	FOXS1 (G61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 2596933	NM_004118.4(FOXS1):c.590C>T (p.Thr197Met)	FOXS1 (T197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592643	NM_004118.4(FOXS1):c.385G>A (p.Ala129Thr)	FOXS1 (A129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495003	NM_004118.4(FOXS1):c.469G>C (p.Glu157Gln)	FOXS1 (E157Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476459	NM_004118.4(FOXS1):c.407C>T (p.Ala136Val)	FOXS1 (A136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365751	NM_004118.4(FOXS1):c.712T>A (p.Leu238Met)	FOXS1 (L238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362563	NM_004118.4(FOXS1):c.968C>T (p.Thr323Met)	FOXS1 (T323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353724	NM_004118.4(FOXS1):c.667G>A (p.Gly223Ser)	FOXS1 (G223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348665	NM_004118.4(FOXS1):c.347G>A (p.Arg116Gln)	FOXS1 (R116Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328504	NM_004118.4(FOXS1):c.307G>C (p.Glu103Gln)	FOXS1 (E103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300911	NM_004118.4(FOXS1):c.49A>G (p.Thr17Ala)	FOXS1 (T17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283486	NM_004118.4(FOXS1):c.620C>A (p.Pro207His)	FOXS1 (P207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283283	NM_004118.4(FOXS1):c.334C>G (p.Arg112Gly)	FOXS1 (R112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278860	NM_004118.4(FOXS1):c.860C>A (p.Ala287Asp)	FOXS1 (A287D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263953	NM_004118.4(FOXS1):c.241C>T (p.Arg81Cys)	FOXS1 (R81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207701	NM_004118.4(FOXS1):c.152G>A (p.Arg51Gln)	FOXS1 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207675	NM_004118.4(FOXS1):c.560G>A (p.Arg187Gln)	FOXS1 (R187Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206803	NM_004118.4(FOXS1):c.329G>A (p.Arg110His)	FOXS1 (R110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808851	GRCh37/hg19 20q11.21(chr20:30299729-30687587)x3	BCL2L1, CCM2L +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340735	GRCh37/hg19 20q11.21(chr20:30239509-30494851)x3	BCL2L1, DUSP15 +4 more	Copy number gain	not provided	GLikely benign
Select item 1340492	GRCh37/hg19 20q11.21(chr20:29652122-30518304)x3	BCL2L1, COX4I2 +15 more	Copy number gain	not provided	GLikely benign
Select item 979729	GRCh37/hg19 20q11.21(chr20:29833534-30494851)x3	DEFB115, DEFB123 +15 more	Copy number gain	not provided	GLikely benign
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442379	GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3	BCL2L1, CCM2L +18 more	Copy number gain	See cases	GUncertain significance
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51