ClinVar for Gene (Select 1044) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141763	NM_001804.3(CDX1):c.783G>C (p.Glu261Asp)	CDX1 (E261D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141761	NM_001804.3(CDX1):c.547C>T (p.Arg183Trp)	CDX1 (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141760	NM_001804.3(CDX1):c.50C>A (p.Pro17Gln)	CDX1 (P17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141759	NM_001804.3(CDX1):c.310C>T (p.Pro104Ser)	CDX1 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141757	NM_001804.3(CDX1):c.245C>T (p.Ala82Val)	CDX1 (A82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634616	NM_001804.3(CDX1):c.430G>A (p.Gly144Ser)	CDX1 (G144S)	Single nucleotide variant (missense variant)	CDX1-related disorder	GUncertain significance
Select item 2612355	NM_001804.3(CDX1):c.446G>A (p.Gly149Asp)	CDX1 (G149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566238	NM_001804.3(CDX1):c.475G>A (p.Val159Met)	CDX1 (V159M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558739	NM_001804.3(CDX1):c.319C>T (p.Pro107Ser)	CDX1 (P107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547581	NM_001804.3(CDX1):c.62C>T (p.Ala21Val)	CDX1 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539388	NM_001804.3(CDX1):c.545G>T (p.Arg182Leu)	CDX1 (R182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496550	NM_001804.3(CDX1):c.434G>A (p.Gly145Asp)	CDX1 (G145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480515	NM_001804.3(CDX1):c.686A>G (p.His229Arg)	CDX1 (H229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467682	NM_001804.3(CDX1):c.725G>A (p.Gly242Asp)	CDX1 (G242D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 2399520	NM_001804.3(CDX1):c.112G>C (p.Ala38Pro)	CDX1 (A38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392717	NM_001804.3(CDX1):c.781G>A (p.Glu261Lys)	CDX1 (E261K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386945	NM_001804.3(CDX1):c.140G>C (p.Ser47Thr)	CDX1 (S47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344095	NM_001804.3(CDX1):c.170C>T (p.Pro57Leu)	CDX1 (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258281	NM_001804.3(CDX1):c.454C>T (p.Arg152Trp)	CDX1 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247566	NM_001804.3(CDX1):c.216G>C (p.Trp72Cys)	CDX1 (W72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	APBB3, CDX1 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 218595	NM_001804.3(CDX1):c.427G>A (p.Gly143Arg)	CDX1 (G143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33