ClinVar for Gene (Select 157869) - ClinVar

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

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158099	NM_153225.4(SBSPON):c.715C>T (p.Arg239Trp)	SBSPON (R239W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158098	NM_153225.4(SBSPON):c.560C>G (p.Pro187Arg)	SBSPON (P187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158097	NM_153225.4(SBSPON):c.410T>A (p.Val137Asp)	SBSPON (V137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158096	NM_153225.4(SBSPON):c.296G>A (p.Arg99His)	SBSPON (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158095	NM_153225.4(SBSPON):c.280A>G (p.Thr94Ala)	SBSPON (T94A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158094	NM_153225.4(SBSPON):c.236A>T (p.Glu79Val)	SBSPON (E79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 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 2658653	NM_153225.4(SBSPON):c.396C>T (p.Cys132=)	SBSPON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622993	NM_153225.4(SBSPON):c.451A>G (p.Thr151Ala)	SBSPON (T151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600214	NM_153225.4(SBSPON):c.322G>A (p.Gly108Ser)	SBSPON (G108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594140	NM_153225.4(SBSPON):c.289C>T (p.Arg97Trp)	SBSPON (R97W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559997	NM_153225.4(SBSPON):c.523G>C (p.Glu175Gln)	SBSPON (E175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554955	NM_153225.4(SBSPON):c.599C>T (p.Thr200Met)	SBSPON (T200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482122	NM_153225.4(SBSPON):c.20C>T (p.Ala7Val)	SBSPON (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478093	NM_153225.4(SBSPON):c.100C>T (p.Pro34Ser)	SBSPON (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464649	NM_153225.4(SBSPON):c.346G>A (p.Glu116Lys)	SBSPON (E116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349759	NM_153225.4(SBSPON):c.493G>A (p.Asp165Asn)	SBSPON (D165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341532	NM_153225.4(SBSPON):c.608T>C (p.Val203Ala)	SBSPON (V203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340850	NM_153225.4(SBSPON):c.770C>T (p.Ala257Val)	SBSPON (A257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333854	NM_153225.4(SBSPON):c.221C>T (p.Pro74Leu)	SBSPON (P74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288500	NM_153225.4(SBSPON):c.125G>C (p.Arg42Thr)	SBSPON (R42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288238	NM_153225.4(SBSPON):c.176C>T (p.Thr59Ile)	SBSPON (T59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272677	NM_153225.4(SBSPON):c.502T>A (p.Tyr168Asn)	SBSPON (Y168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208426	NM_153225.4(SBSPON):c.742C>T (p.Arg248Trp)	SBSPON (R248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206278	NM_153225.4(SBSPON):c.415G>A (p.Ala139Thr)	SBSPON (A139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205798	NM_153225.4(SBSPON):c.91G>A (p.Gly31Ser)	SBSPON (G31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 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: 50