ClinVar for Gene (Select 1045) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 2602502	NM_001265.6(CDX2):c.536G>A (p.Ser179Asn)	CDX2 (S179N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556228	NM_001265.6(CDX2):c.24C>G (p.Asp8Glu)	CDX2 (D8E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551088	NM_001265.6(CDX2):c.479G>A (p.Gly160Asp)	CDX2 (G160D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540267	NM_001265.6(CDX2):c.137C>A (p.Ala46Glu)	CDX2 (A46E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527007	NM_001265.6(CDX2):c.935C>G (p.Thr312Ser)	CDX2 (T312S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473964	NM_001265.6(CDX2):c.107A>G (p.Gln36Arg)	CDX2 (Q36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429738	NM_001265.6(CDX2):c.722A>G (p.Glu241Gly)	CDX2 (E241G +1 more)	Single nucleotide variant (missense variant)	Anorectal malformation	GLikely pathogenic
Select item 2378524	NM_001265.6(CDX2):c.850C>T (p.Pro284Ser)	CDX2 (P284S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371524	NM_001265.6(CDX2):c.625C>T (p.Arg209Cys)	CDX2 (R209C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365625	NM_001265.6(CDX2):c.103C>A (p.Pro35Thr)	CDX2 (P35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365383	NM_001265.6(CDX2):c.849T>A (p.Ser283Arg)	CDX2 (S283R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345787	NM_001265.6(CDX2):c.262G>T (p.Ala88Ser)	CDX2 (A88S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328751	NM_001265.6(CDX2):c.343C>A (p.Pro115Thr)	CDX2 (P115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314899	NM_001265.6(CDX2):c.334G>A (p.Asp112Asn)	CDX2 (D112N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295153	NM_001265.6(CDX2):c.122G>A (p.Gly41Asp)	CDX2 (G41D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237106	NM_001265.6(CDX2):c.761A>C (p.Gln254Pro)	CDX2 (S253R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 815577	GRCh37/hg19 13q12.2(chr13:28083408-28591050)x3	GSX1, LNX2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 812557	NM_001265.6(CDX2):c.940T>C (p.Ter314Arg)	CDX2	Single nucleotide variant (stop lost +1 more)	Sirenomelia	GLikely pathogenic
Select item 782573	NM_001265.6(CDX2):c.688-6T>A	CDX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 768606	NM_001265.6(CDX2):c.877= (p.Pro293=)	CDX2	Variation (no sequence alteration)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	PARP4, PCOTH +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443090	GRCh37/hg19 13q12.2-12.3(chr13:28152002-29117192)x3	CDX2, FLT1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +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)	ALG11, ABCC4 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 more	Copy number gain	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53