ClinVar for Gene (Select 64129) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326204	NM_022164.3(TINAGL1):c.356G>T (p.Trp119Leu)	TINAGL1 (W14L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326203	NM_022164.3(TINAGL1):c.1333G>A (p.Glu445Lys)	TINAGL1 (E445K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326202	NM_022164.3(TINAGL1):c.500G>T (p.Gly167Val)	TINAGL1 (G167V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326201	NM_022164.3(TINAGL1):c.335A>T (p.Tyr112Phe)	TINAGL1 (Y112F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326200	NM_022164.3(TINAGL1):c.587T>C (p.Val196Ala)	TINAGL1 (V165A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177604	NM_022164.3(TINAGL1):c.67C>G (p.Gln23Glu)	LOC105378626, TINAGL1 (Q23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177602	NM_022164.3(TINAGL1):c.454C>G (p.Gln152Glu)	TINAGL1 (Q152E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177601	NM_022164.3(TINAGL1):c.329G>A (p.Arg110His)	TINAGL1 (R5H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177600	NM_022164.3(TINAGL1):c.1390A>G (p.Met464Val)	TINAGL1 (M359V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177599	NM_022164.3(TINAGL1):c.137G>A (p.Arg46Gln)	LOC105378626, TINAGL1 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2638603	NM_022164.3(TINAGL1):c.717C>T (p.Ser239=)	TINAGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555167	NM_022164.3(TINAGL1):c.949G>T (p.Gly317Cys)	TINAGL1 (G286C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553868	NM_022164.3(TINAGL1):c.943G>A (p.Ala315Thr)	TINAGL1 (A210T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543948	NM_022164.3(TINAGL1):c.1328T>C (p.Val443Ala)	TINAGL1 (V338A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538446	NM_022164.3(TINAGL1):c.136C>T (p.Arg46Trp)	LOC105378626, TINAGL1 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524213	NM_022164.3(TINAGL1):c.83G>A (p.Arg28His)	LOC105378626, TINAGL1 (R28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519670	NM_022164.3(TINAGL1):c.941G>A (p.Arg314Gln)	TINAGL1 (R283Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469071	NM_022164.3(TINAGL1):c.388A>G (p.Asn130Asp)	TINAGL1 (N25D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467746	NM_022164.3(TINAGL1):c.1392G>C (p.Met464Ile)	TINAGL1 (M359I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458234	NM_022164.3(TINAGL1):c.887C>T (p.Ser296Leu)	TINAGL1 (S296L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408637	NM_022164.3(TINAGL1):c.56C>T (p.Ala19Val)	LOC105378626, TINAGL1 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407727	NM_022164.3(TINAGL1):c.1235T>C (p.Leu412Pro)	TINAGL1 (L307P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401518	NM_022164.3(TINAGL1):c.847C>T (p.Arg283Cys)	TINAGL1 (R252C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397251	NM_022164.3(TINAGL1):c.593A>G (p.Asn198Ser)	TINAGL1 (N167S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387576	NM_022164.3(TINAGL1):c.335A>C (p.Tyr112Ser)	TINAGL1 (Y7S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386335	NM_022164.3(TINAGL1):c.128C>T (p.Ala43Val)	LOC105378626, TINAGL1 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366975	NM_022164.3(TINAGL1):c.122G>A (p.Arg41Gln)	LOC105378626, TINAGL1 (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360588	NM_022164.3(TINAGL1):c.904G>A (p.Glu302Lys)	TINAGL1 (E197K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342601	NM_022164.3(TINAGL1):c.289C>T (p.Pro97Ser)	LOC105378626, TINAGL1 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331770	NM_022164.3(TINAGL1):c.986A>G (p.Asn329Ser)	TINAGL1 (N298S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253733	NM_022164.3(TINAGL1):c.1331A>G (p.Asn444Ser)	TINAGL1 (N444S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253394	NM_022164.3(TINAGL1):c.181G>T (p.Asp61Tyr)	LOC105378626, TINAGL1 (D61Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250089	NM_022164.3(TINAGL1):c.133G>A (p.Gly45Ser)	LOC105378626, TINAGL1 (G45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215544	NM_022164.3(TINAGL1):c.191T>G (p.Leu64Arg)	LOC105378626, TINAGL1 (L64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 749342	NM_022164.3(TINAGL1):c.84C>T (p.Arg28=)	LOC105378626, TINAGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +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
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
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 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 47