FCHSD1[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2314748	NM_173828.5(RELL2):c.334A>G (p.Ser112Gly)	FCHSD1, RELL2 (S112G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152941	NM_173828.5(RELL2):c.386C>T (p.Ala129Val)	FCHSD1, RELL2 (A129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313577	NM_173828.5(RELL2):c.425C>T (p.Pro142Leu)	FCHSD1, RELL2 (P142L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2294758	NM_173828.5(RELL2):c.434G>A (p.Arg145His)	FCHSD1, RELL2 (R145H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520823	NM_173828.5(RELL2):c.450G>T (p.Lys150Asn)	FCHSD1, RELL2 (K150N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363814	NM_173828.5(RELL2):c.589G>T (p.Gly197Trp)	FCHSD1, RELL2 (G197W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152942	NM_173828.5(RELL2):c.604G>A (p.Gly202Arg)	FCHSD1, RELL2 (G202R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590687	NM_173828.5(RELL2):c.671C>A (p.Pro224His)	FCHSD1, RELL2 (P224H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323765	NM_173828.5(RELL2):c.691G>A (p.Val231Ile)	FCHSD1, RELL2 (V231I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360498	NM_173828.5(RELL2):c.730G>A (p.Asp244Asn)	FCHSD1, RELL2 (D244N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456343	NM_173828.5(RELL2):c.775T>C (p.Ser259Pro)	FCHSD1, RELL2 (S259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313579	NM_173828.5(RELL2):c.802G>A (p.Gly268Arg)	FCHSD1, RELL2 (G268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313576	NM_173828.5(RELL2):c.896G>A (p.Gly299Glu)	FCHSD1, RELL2 (G299E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598575	NM_033449.3(FCHSD1):c.2065C>G (p.Leu689Val)	FCHSD1 (L689V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094118	NM_033449.3(FCHSD1):c.2062C>T (p.Pro688Ser)	FCHSD1 (P688S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256331	NM_033449.3(FCHSD1):c.2027C>T (p.Pro676Leu)	FCHSD1 (P676L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360674	NM_033449.3(FCHSD1):c.2011C>T (p.Arg671Cys)	FCHSD1 (R671C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094117	NM_033449.3(FCHSD1):c.1981G>A (p.Asp661Asn)	FCHSD1 (D661N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094116	NM_033449.3(FCHSD1):c.1903G>A (p.Ala635Thr)	FCHSD1 (A635T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594724	NM_033449.3(FCHSD1):c.1861C>A (p.Gln621Lys)	FCHSD1 (Q621K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474712	NM_033449.3(FCHSD1):c.1828C>T (p.Pro610Ser)	FCHSD1 (P610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278359	NM_033449.3(FCHSD1):c.1772A>G (p.Glu591Gly)	FCHSD1 (E591G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655870	NM_033449.3(FCHSD1):c.1731C>T (p.Pro577=)	FCHSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602807	NM_033449.3(FCHSD1):c.1721G>A (p.Arg574His)	FCHSD1 (R574H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094114	NM_033449.3(FCHSD1):c.1699T>C (p.Phe567Leu)	FCHSD1 (F567L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463773	NM_033449.3(FCHSD1):c.1697G>A (p.Ser566Asn)	FCHSD1 (S566N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329862	NM_033449.3(FCHSD1):c.1669T>G (p.Tyr557Asp)	FCHSD1 (Y557D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278362	NM_033449.3(FCHSD1):c.1620T>G (p.Asn540Lys)	FCHSD1 (N540K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456889	NM_033449.3(FCHSD1):c.1610A>G (p.Asp537Gly)	FCHSD1 (D537G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094113	NM_033449.3(FCHSD1):c.1606C>G (p.Gln536Glu)	FCHSD1 (Q536E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351645	NM_033449.3(FCHSD1):c.1583A>T (p.Asp528Val)	FCHSD1 (D528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094112	NM_033449.3(FCHSD1):c.1568A>C (p.Tyr523Ser)	FCHSD1 (Y523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278358	NM_033449.3(FCHSD1):c.1528C>G (p.Arg510Gly)	FCHSD1 (R510G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480291	NM_033449.3(FCHSD1):c.1528C>T (p.Arg510Trp)	FCHSD1 (R510W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094111	NM_033449.3(FCHSD1):c.1512C>G (p.Asp504Glu)	FCHSD1 (D504E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094110	NM_033449.3(FCHSD1):c.1448G>A (p.Arg483His)	FCHSD1 (R483H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094109	NM_033449.3(FCHSD1):c.1376C>G (p.Pro459Arg)	FCHSD1 (P459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094107	NM_033449.3(FCHSD1):c.1267C>T (p.Arg423Trp)	FCHSD1 (R423W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278353	NM_033449.3(FCHSD1):c.1147C>G (p.Gln383Glu)	FCHSD1 (Q383E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094106	NM_033449.3(FCHSD1):c.1138C>T (p.Arg380Cys)	FCHSD1 (R380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317832	NM_033449.3(FCHSD1):c.1118A>G (p.Gln373Arg)	FCHSD1 (Q373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598305	NM_033449.3(FCHSD1):c.1087C>T (p.Arg363Trp)	FCHSD1 (R363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281727	NM_033449.3(FCHSD1):c.1082C>T (p.Ser361Leu)	FCHSD1 (S361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460517	NM_033449.3(FCHSD1):c.890C>A (p.Pro297Gln)	FCHSD1 (P297Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094122	NM_033449.3(FCHSD1):c.883C>T (p.Pro295Ser)	FCHSD1 (P295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275111	NM_033449.3(FCHSD1):c.854T>G (p.Leu285Arg)	FCHSD1 (L285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479545	NM_033449.3(FCHSD1):c.830T>G (p.Val277Gly)	FCHSD1 (V277G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278356	NM_033449.3(FCHSD1):c.806G>T (p.Arg269Leu)	FCHSD1 (R269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278354	NM_033449.3(FCHSD1):c.778G>A (p.Ala260Thr)	FCHSD1 (A260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385449	NM_033449.3(FCHSD1):c.767A>C (p.Glu256Ala)	FCHSD1 (E256A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219982	NM_033449.3(FCHSD1):c.663C>A (p.His221Gln)	FCHSD1 (H221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278361	NM_033449.3(FCHSD1):c.658G>T (p.Ala220Ser)	FCHSD1 (A220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094121	NM_033449.3(FCHSD1):c.623G>A (p.Arg208His)	FCHSD1 (R208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395899	NM_033449.3(FCHSD1):c.622C>T (p.Arg208Cys)	FCHSD1 (R208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214973	NM_033449.3(FCHSD1):c.572C>T (p.Thr191Ile)	FCHSD1 (T191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278357	NM_033449.3(FCHSD1):c.554G>T (p.Ser185Ile)	FCHSD1 (S185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590372	NM_033449.3(FCHSD1):c.545C>A (p.Ser182Tyr)	FCHSD1 (S182Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094120	NM_033449.3(FCHSD1):c.517A>C (p.Asn173His)	FCHSD1 (N173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230367	NM_033449.3(FCHSD1):c.493G>A (p.Ala165Thr)	FCHSD1 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369449	NM_033449.3(FCHSD1):c.437G>A (p.Arg146Gln)	FCHSD1 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260268	NM_033449.3(FCHSD1):c.398C>T (p.Ala133Val)	FCHSD1 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342422	NM_033449.3(FCHSD1):c.352G>A (p.Ala118Thr)	FCHSD1 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521820	NM_033449.3(FCHSD1):c.337G>C (p.Gly113Arg)	FCHSD1 (G113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374940	NM_033449.3(FCHSD1):c.332C>T (p.Ala111Val)	FCHSD1 (A111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207761	NM_033449.3(FCHSD1):c.326A>C (p.Asp109Ala)	FCHSD1 (D109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278352	NM_033449.3(FCHSD1):c.316C>G (p.Arg106Gly)	FCHSD1 (R106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232173	NM_033449.3(FCHSD1):c.315C>A (p.Asp105Glu)	FCHSD1 (D105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263032	NM_033449.3(FCHSD1):c.274G>A (p.Ala92Thr)	FCHSD1 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454870	NM_033449.3(FCHSD1):c.260G>A (p.Arg87His)	FCHSD1 (R87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254157	NM_033449.3(FCHSD1):c.212G>A (p.Arg71Gln)	FCHSD1 (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094108	NM_033449.3(FCHSD1):c.131A>G (p.Lys44Arg)	FCHSD1 (K44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335554	NM_033449.3(FCHSD1):c.73C>T (p.Leu25Phe)	FCHSD1 (L25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205370	NM_033449.3(FCHSD1):c.58G>C (p.Glu20Gln)	FCHSD1 (E20Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231514	NM_033449.3(FCHSD1):c.17G>T (p.Arg6Leu)	FCHSD1 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278355	NM_033449.3(FCHSD1):c.7C>T (p.Pro3Ser)	FCHSD1 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 90