ClinVar for Gene (Select 7278) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330189	NM_006001.3(TUBA3C):c.394C>G (p.Leu132Val)	TUBA3C (L132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330188	NM_006001.3(TUBA3C):c.49G>A (p.Gly17Ser)	TUBA3C (G17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330187	NM_006001.3(TUBA3C):c.448G>A (p.Ala150Thr)	TUBA3C (A150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330186	NM_006001.3(TUBA3C):c.641G>A (p.Arg214Gln)	TUBA3C (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184715	NM_006001.3(TUBA3C):c.88A>G (p.Ile30Val)	TUBA3C (I30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184714	NM_006001.3(TUBA3C):c.529G>A (p.Val177Ile)	TUBA3C (V177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184713	NM_006001.3(TUBA3C):c.377C>T (p.Ala126Val)	TUBA3C (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184712	NM_006001.3(TUBA3C):c.361C>T (p.Arg121Trp)	TUBA3C (R121W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184711	NM_006001.3(TUBA3C):c.175G>C (p.Gly59Arg)	TUBA3C (G59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184710	NM_006001.3(TUBA3C):c.1325C>G (p.Ala442Gly)	TUBA3C (A442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184709	NM_006001.3(TUBA3C):c.1003A>G (p.Ile335Val)	TUBA3C (I335V)	Single nucleotide variant (missense variant)	not specified	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 2601800	NM_006001.3(TUBA3C):c.662G>A (p.Arg221His)	TUBA3C (R221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593046	NM_006001.3(TUBA3C):c.989C>T (p.Ala330Val)	TUBA3C (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552582	NM_006001.3(TUBA3C):c.1327G>C (p.Glu443Gln)	TUBA3C (E443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549017	NM_006001.3(TUBA3C):c.554A>G (p.Tyr185Cys)	TUBA3C (Y185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540626	NM_006001.3(TUBA3C):c.1337A>T (p.Glu446Val)	TUBA3C (E446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524444	NM_006001.3(TUBA3C):c.835G>A (p.Glu279Lys)	TUBA3C (E279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479407	NM_006001.3(TUBA3C):c.1115A>G (p.Gln372Arg)	TUBA3C (Q372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472605	NM_006001.3(TUBA3C):c.1118G>A (p.Arg373Gln)	TUBA3C (R373Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456028	NM_006001.3(TUBA3C):c.862G>A (p.Val288Met)	TUBA3C (V288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379110	NM_006001.3(TUBA3C):c.1292A>C (p.Asp431Ala)	TUBA3C (D431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345756	NM_006001.3(TUBA3C):c.5G>A (p.Arg2His)	TUBA3C (R2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342438	NM_006001.3(TUBA3C):c.1265G>T (p.Arg422Leu)	TUBA3C (R422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306527	NM_006001.3(TUBA3C):c.125T>C (p.Ile42Thr)	TUBA3C (I42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276658	NM_006001.3(TUBA3C):c.59G>A (p.Cys20Tyr)	TUBA3C (C20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204817	NM_006001.3(TUBA3C):c.1016G>A (p.Arg339His)	TUBA3C (R339H)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 394411	GRCh37/hg19 13q12.11(chr13:19571503-19753683)x3	TUBA3C	Copy number gain	See cases	GLikely benign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 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 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	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 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 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 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 59