17299[HGNC] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 151278	GRCh38/hg38 13q12.11(chr13:19283997-19479601)x3	LINC00421, TPTE2	Copy number gain	See cases	GLikely benign
Select item 2282697	NM_001395978.1(TPTE2):c.1467G>C (p.Arg489Ser)	TPTE2 (R160S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408200	NM_001395978.1(TPTE2):c.1412A>G (p.Tyr471Cys)	TPTE2 (Y471C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483258	NM_001395978.1(TPTE2):c.1358C>T (p.Pro453Leu)	TPTE2 (P376L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465721	NM_001395978.1(TPTE2):c.1298G>A (p.Cys433Tyr)	TPTE2 (C433Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181697	NM_001395978.1(TPTE2):c.1261A>G (p.Lys421Glu)	TPTE2 (K421E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458591	NM_001395978.1(TPTE2):c.1220G>C (p.Arg407Pro)	TPTE2 (R407P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248550	NM_001395978.1(TPTE2):c.1162T>C (p.Trp388Arg)	TPTE2 (W59R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181696	NM_001395978.1(TPTE2):c.1074A>C (p.Lys358Asn)	TPTE2 (K29N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368851	NM_001395978.1(TPTE2):c.1070A>G (p.Asn357Ser)	TPTE2 (N280S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181706	NM_001395978.1(TPTE2):c.982G>A (p.Gly328Arg)	TPTE2 (G217R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328371	NM_001395978.1(TPTE2):c.950C>T (p.Ala317Val)	TPTE2 (A206V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461182	NM_001395978.1(TPTE2):c.889A>G (p.Met297Val)	TPTE2 (M186V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611792	NM_001395978.1(TPTE2):c.841G>A (p.Val281Ile)	TPTE2 (V170I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337014	NM_001395978.1(TPTE2):c.821C>A (p.Pro274His)	TPTE2 (P197H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349023	NM_001395978.1(TPTE2):c.754T>G (p.Phe252Val)	TPTE2 (F252V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181705	NM_001395978.1(TPTE2):c.752G>A (p.Arg251Gln)	TPTE2 (R174Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394113	NM_001395978.1(TPTE2):c.751C>T (p.Arg251Trp)	TPTE2 (R174W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 145861	GRCh38/hg38 13q12.11(chr13:19452025-19555582)x1	LOC130009290, TPTE2	Copy number loss	See cases	GLikely benign
Select item 145860	GRCh38/hg38 13q12.11(chr13:19452025-19555582)x3	LOC130009290, TPTE2	Copy number gain	See cases	GBenign
Select item 2473015	NM_001395978.1(TPTE2):c.736A>G (p.Ile246Val)	TPTE2 (I135V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457383	NM_001395978.1(TPTE2):c.700C>T (p.Pro234Ser)	TPTE2 (P234S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455264	NM_001395978.1(TPTE2):c.679C>T (p.Arg227Cys)	TPTE2 (R150C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462425	NM_001395978.1(TPTE2):c.638C>A (p.Thr213Lys)	TPTE2 (T136K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3181704	NM_001395978.1(TPTE2):c.626A>G (p.Lys209Arg)	TPTE2 (K132R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221854	NM_001395978.1(TPTE2):c.533T>C (p.Leu178Pro)	TPTE2 (L101P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2613264	NM_001395978.1(TPTE2):c.479T>G (p.Phe160Cys)	TPTE2 (F160C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328369	NM_001395978.1(TPTE2):c.451C>T (p.Pro151Ser)	TPTE2 (P151S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346758	NM_001395978.1(TPTE2):c.422A>T (p.Asn141Ile)	TPTE2 (N141I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 403563	NM_001395978.1(TPTE2):c.393-11_393-10del	TPTE2	Deletion (intron variant)	not specified	GBenign
Select item 3181703	NM_001395978.1(TPTE2):c.377G>A (p.Arg126Gln)	TPTE2 (R126Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475439	NM_001395978.1(TPTE2):c.376C>G (p.Arg126Gly)	TPTE2 (R89G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2567594	NM_001395978.1(TPTE2):c.347G>T (p.Gly116Val)	TPTE2 (G79V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546942	NM_001395978.1(TPTE2):c.331A>C (p.Ile111Leu)	TPTE2 (I111L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328370	NM_001395978.1(TPTE2):c.296A>G (p.Asp99Gly)	TPTE2 (D62G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181701	NM_001395978.1(TPTE2):c.280G>A (p.Asp94Asn)	TPTE2 (D57N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273028	NM_001395978.1(TPTE2):c.233T>C (p.Ile78Thr)	TPTE2 (I41T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181700	NM_001395978.1(TPTE2):c.224C>T (p.Ala75Val)	TPTE2 (A75V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181699	NM_001395978.1(TPTE2):c.218C>A (p.Ser73Tyr)	TPTE2 (S73Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623125	NM_001395978.1(TPTE2):c.182G>A (p.Ser61Asn)	TPTE2 (S61N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181698	NM_001395978.1(TPTE2):c.140A>G (p.Lys47Arg)	TPTE2 (K47R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 146898	GRCh38/hg38 13q12.11(chr13:19503409-20005117)x3	LOC130009290, LOC130009291 +22 more	Copy number gain	See cases	GUncertain significance
Select item 3148926	GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3	GJA3, GJB2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 2684691	GRCh37/hg19 13q12.11(chr13:20050099-20602627)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684690	GRCh37/hg19 13q12.11(chr13:19777092-20278649)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1807884	GRCh37/hg19 13q12.11(chr13:19725083-20273635)x3	MPHOSPH8, PSPC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 981007	GRCh37/hg19 13q12.11(chr13:20085212-20571450)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815567	GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	MPHOSPH8, FGF9 +27 more	Copy number loss	not provided	GPathogenic
Select item 815566	GRCh37/hg19 13q11-12.11(chr13:19436286-20886867)x3	ZMYM5, TUBA3C +7 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 685307	GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GPathogenic
Select item 625812	GRCh37/hg19 13q12.11(chr13:19540031-22849981)	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564075	GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	ATP12A, C1QTNF9 +30 more	Copy number loss	not provided	GPathogenic
Select item 443440	GRCh37/hg19 13q12.11(chr13:20095295-20608465)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 80