28273[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 3176050	NM_052943.4(TENT5B):c.1237C>A (p.Leu413Ile)	TENT5B (L413I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176049	NM_052943.4(TENT5B):c.1213T>C (p.Tyr405His)	TENT5B (Y405H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176048	NM_052943.4(TENT5B):c.1192G>A (p.Val398Ile)	TENT5B (V398I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176047	NM_052943.4(TENT5B):c.1189G>A (p.Gly397Arg)	TENT5B (G397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176046	NM_052943.4(TENT5B):c.1187A>T (p.Asp396Val)	TENT5B (D396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176045	NM_052943.4(TENT5B):c.1088G>A (p.Arg363His)	TENT5B (R363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176044	NM_052943.4(TENT5B):c.1012C>T (p.Arg338Cys)	TENT5B (R338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325394	NM_052943.4(TENT5B):c.994G>A (p.Gly332Ser)	TENT5B (G332S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620830	NM_052943.4(TENT5B):c.945C>A (p.Asp315Glu)	TENT5B (D315E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325393	NM_052943.4(TENT5B):c.908G>C (p.Arg303Pro)	TENT5B (R303P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613294	NM_052943.4(TENT5B):c.872G>A (p.Arg291Gln)	TENT5B (R291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176064	NM_052943.4(TENT5B):c.806G>A (p.Arg269His)	TENT5B (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176063	NM_052943.4(TENT5B):c.799G>A (p.Ala267Thr)	TENT5B (A267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638551	NM_052943.4(TENT5B):c.798C>T (p.Ile266=)	TENT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490943	NM_052943.4(TENT5B):c.784C>T (p.Arg262Trp)	TENT5B (R262W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176062	NM_052943.4(TENT5B):c.734T>C (p.Val245Ala)	TENT5B (V245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512159	NM_052943.4(TENT5B):c.731C>T (p.Thr244Met)	TENT5B (T244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176061	NM_052943.4(TENT5B):c.721T>C (p.Phe241Leu)	TENT5B (F241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482612	NM_052943.4(TENT5B):c.717G>C (p.Glu239Asp)	TENT5B (E239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560789	NM_052943.4(TENT5B):c.707C>G (p.Pro236Arg)	TENT5B (P236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556012	NM_052943.4(TENT5B):c.692A>T (p.Gln231Leu)	TENT5B (Q231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176059	NM_052943.4(TENT5B):c.598G>A (p.Val200Met)	TENT5B (V200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176058	NM_052943.4(TENT5B):c.589G>A (p.Gly197Ser)	TENT5B (G197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176057	NM_052943.4(TENT5B):c.470C>T (p.Ala157Val)	TENT5B (A157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325391	NM_052943.4(TENT5B):c.467C>A (p.Pro156Gln)	TENT5B (P156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516282	NM_052943.4(TENT5B):c.462C>G (p.Phe154Leu)	TENT5B (F154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176056	NM_052943.4(TENT5B):c.404G>A (p.Arg135His)	TENT5B (R135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176055	NM_052943.4(TENT5B):c.340G>A (p.Val114Met)	TENT5B (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176054	NM_052943.4(TENT5B):c.314G>A (p.Arg105Gln)	TENT5B (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176053	NM_052943.4(TENT5B):c.271C>T (p.Arg91Cys)	TENT5B (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325395	NM_052943.4(TENT5B):c.194G>A (p.Ser65Asn)	TENT5B (S65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531189	NM_052943.4(TENT5B):c.176G>T (p.Arg59Leu)	TENT5B (R59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176052	NM_052943.4(TENT5B):c.132C>A (p.Phe44Leu)	TENT5B (F44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176051	NM_052943.4(TENT5B):c.128C>T (p.Ala43Val)	TENT5B (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176066	NM_052943.4(TENT5B):c.92C>T (p.Pro31Leu)	TENT5B (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176065	NM_052943.4(TENT5B):c.89C>T (p.Ala30Val)	TENT5B (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176060	NM_052943.4(TENT5B):c.71C>G (p.Thr24Arg)	TENT5B (T24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325392	NM_052943.4(TENT5B):c.53T>A (p.Val18Glu)	TENT5B (V18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481561	NM_052943.4(TENT5B):c.52G>T (p.Val18Leu)	TENT5B (V18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527725	GRCh37/hg19 1p36.11(chr1:27119557-27547784)	GPATCH3, GPN2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1412090	NC_000001.10:g.(?_27117307)_(27480825_?)dup	GPATCH3, GPN2 +9 more	Duplication	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 49