ClinVar for Gene (Select 6400) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3159460	NM_005065.6(SEL1L):c.89A>T (p.Asp30Val)	SEL1L (D30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159459	NM_005065.6(SEL1L):c.838G>A (p.Val280Ile)	SEL1L (V280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159458	NM_005065.6(SEL1L):c.659A>G (p.Lys220Arg)	SEL1L (K220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159457	NM_005065.6(SEL1L):c.611G>A (p.Arg204Lys)	SEL1L (R204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159456	NM_005065.6(SEL1L):c.480A>C (p.Lys160Asn)	LOC129390655, SEL1L (K160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159455	NM_005065.6(SEL1L):c.403G>T (p.Asp135Tyr)	LOC129390655, SEL1L (D135Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159454	NM_005065.6(SEL1L):c.215T>A (p.Ile72Asn)	SEL1L (I72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159453	NM_005065.6(SEL1L):c.212C>T (p.Ser71Phe)	SEL1L (S71F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159452	NM_005065.6(SEL1L):c.1822A>G (p.Asn608Asp)	SEL1L (N608D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159451	NM_005065.6(SEL1L):c.1660C>T (p.Arg554Cys)	SEL1L (R554C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159450	NM_005065.6(SEL1L):c.143A>G (p.His48Arg)	SEL1L (H48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159449	NM_005065.6(SEL1L):c.1370A>G (p.Tyr457Cys)	SEL1L (Y457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159448	NM_005065.6(SEL1L):c.125A>G (p.Asp42Gly)	SEL1L (D42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159447	NM_005065.6(SEL1L):c.1201T>C (p.Phe401Leu)	SEL1L (F401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148944	GRCh37/hg19 14q24.3-31.3(chr14:79068206-87464634)x1	CEP128, DIO2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 3063337	GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3	CEP128, DIO2 +5 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2604523	NM_005065.6(SEL1L):c.885G>A (p.Met295Ile)	SEL1L (M295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561806	NM_005065.6(SEL1L):c.1730A>G (p.Gln577Arg)	SEL1L (Q577R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556106	NM_005065.6(SEL1L):c.1391A>G (p.Gln464Arg)	SEL1L (Q464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555018	NM_005065.6(SEL1L):c.286T>G (p.Ser96Ala)	SEL1L (S96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535992	NM_005065.6(SEL1L):c.1708G>T (p.Asp570Tyr)	SEL1L (D570Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479881	NM_005065.6(SEL1L):c.1702G>A (p.Asp568Asn)	SEL1L (D568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479784	NM_005065.6(SEL1L):c.269A>T (p.Asp90Val)	SEL1L (D90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403203	NM_005065.6(SEL1L):c.916G>A (p.Gly306Ser)	SEL1L (G306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387328	NM_005065.6(SEL1L):c.2323C>T (p.Pro775Ser)	SEL1L (P775S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386800	NM_005065.6(SEL1L):c.1964G>A (p.Arg655His)	SEL1L (R655H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365581	NM_005065.6(SEL1L):c.622C>T (p.Arg208Trp)	SEL1L (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346018	NM_005065.6(SEL1L):c.2143G>A (p.Val715Ile)	SEL1L (V715I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322519	NM_005065.6(SEL1L):c.437G>A (p.Arg146Lys)	LOC129390655, SEL1L (R146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292903	NM_005065.6(SEL1L):c.1827A>C (p.Glu609Asp)	SEL1L (E609D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290071	NM_005065.6(SEL1L):c.2177T>C (p.Ile726Thr)	SEL1L (I726T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289464	NM_005065.6(SEL1L):c.1205A>G (p.Asn402Ser)	SEL1L (N402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287874	NM_005065.6(SEL1L):c.10C>T (p.Arg4Trp)	SEL1L (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284497	NM_005065.6(SEL1L):c.178T>C (p.Phe60Leu)	SEL1L (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282466	NM_005065.6(SEL1L):c.1846C>G (p.Leu616Val)	SEL1L (L616V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275728	NM_005065.6(SEL1L):c.685C>G (p.Leu229Val)	SEL1L (L229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268069	NM_005065.6(SEL1L):c.556A>G (p.Met186Val)	SEL1L (M186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262453	NM_005065.6(SEL1L):c.2332C>T (p.Arg778Trp)	SEL1L (R778W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225187	NM_005065.6(SEL1L):c.1771A>G (p.Ser591Gly)	SEL1L (S591G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808448	GRCh37/hg19 14q31.1(chr14:81938991-83211803)x3	SEL1L	Copy number gain	not provided	GUncertain significance
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 781149	NM_005065.6(SEL1L):c.572T>C (p.Met191Thr)	SEL1L (M191T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768668	NM_005065.6(SEL1L):c.340+4G>A	SEL1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 747624	NM_005065.6(SEL1L):c.567T>G (p.Thr189=)	SEL1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708173	NM_005065.6(SEL1L):c.606A>G (p.Gln202=)	SEL1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564128	GRCh37/hg19 14q31.1(chr14:81831187-82613787)x3	STON2, SEL1L	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	CEP128, DIO2 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 58