CADM2[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 57759	GRCh38/hg38 3p12.2-11.2(chr3:80320584-87468216)x3	CADM2, CADM2-AS1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 57801	GRCh38/hg38 3p12.2-12.1(chr3:81504313-85127899)x1	CADM2, GBE1 +20 more	Copy number loss	See cases	GPathogenic
Select item 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic
Select item 144755	GRCh38/hg38 3p12.1(chr3:85017472-85269997)x1	CADM2, SNORA95	Copy number loss	See cases	GUncertain significance
Select item 144855	GRCh38/hg38 3p12.1(chr3:85408307-85566418)x1	CADM2	Copy number loss	See cases	GBenign
Select item 221698	GRCh38/hg38 3p12.1(chr3:85427867-85558987)x1	CADM2	Copy number loss	Premature ovarian failure	GBenign
Select item 151884	GRCh38/hg38 3p12.1(chr3:85521116-85566418)x1	CADM2	Copy number loss	See cases	GBenign
Select item 2243247	NM_001167675.2(CADM2):c.344T>C (p.Leu115Ser)	CADM2 (L108S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2261926	NM_001167675.2(CADM2):c.412A>T (p.Ile138Phe)	CADM2 (I122F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 783311	NM_001167675.2(CADM2):c.465C>T (p.Cys155=)	CADM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2261386	NM_001167675.2(CADM2):c.800C>T (p.Pro267Leu)	CADM2 (P221L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263655	NM_001167675.2(CADM2):c.871A>T (p.Asn291Tyr)	CADM2 (N241Y +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326120	NM_001167675.2(CADM2):c.970+17565C>A	CADM2 (T331N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301719	NM_001167675.2(CADM2):c.970+17579A>G	CADM2 (T336A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 714392	NM_001167675.2(CADM2):c.970+17639A>G	CADM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2516400	NM_001167675.2(CADM2):c.973C>T (p.Pro325Ser)	CADM2 (P208S +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771703	NM_001167675.2(CADM2):c.981T>C (p.Ala327=)	CADM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788972	NM_001167675.2(CADM2):c.1050G>C (p.Thr350=)	CADM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2311882	NM_001167675.2(CADM2):c.1193A>G (p.Glu398Gly)	CADM2 (E348G +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607000	NM_001167675.2(CADM2):c.1210A>G (p.Ile404Val)	CADM2 (I354V +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807683	GRCh37/hg19 3p12.2-12.1(chr3:82896300-85764904)x3	CADM2	Copy number gain	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980023	GRCh37/hg19 3p12.2-12.1(chr3:80873527-85127795)x3	GBE1, CADM2	Copy number gain	not provided	GUncertain significance
Select item 980021	GRCh37/hg19 3p12.1(chr3:84958561-85175858)x3	CADM2	Copy number gain	not provided	GLikely benign
Select item 980020	GRCh37/hg19 3p12.1(chr3:85323182-85578035)x1	CADM2	Copy number loss	not provided	GLikely benign
Select item 814461	GRCh37/hg19 3p12.1(chr3:84951675-85119041)x1	CADM2	Copy number loss	not provided	GUncertain significance
Select item 814460	GRCh37/hg19 3p12.1(chr3:83681388-85570265)x3	CADM2	Copy number gain	not provided	GUncertain significance
Select item 688918	GRCh37/hg19 3p12.1(chr3:85462795-85678555)x1	CADM2	Copy number loss	not provided	GUncertain significance
Select item 688880	GRCh37/hg19 3p12.1(chr3:84757732-85375831)x3	CADM2	Copy number gain	not provided	GUncertain significance
Select item 688595	GRCh37/hg19 3p12.1(chr3:85534492-85630237)x1	CADM2	Copy number loss	not provided	GUncertain significance
Select item 687336	GRCh37/hg19 3p12.1(chr3:85545466-85630145)x1	CADM2	Copy number loss	not provided	GUncertain significance
Select item 687296	GRCh37/hg19 3p12.1(chr3:85534558-85630237)x1	CADM2	Copy number loss	not provided	GUncertain significance
Select item 687282	GRCh37/hg19 3p12.1(chr3:85555420-85622910)x1	CADM2	Copy number loss	not provided	GUncertain significance
Select item 685501	GRCh37/hg19 3p12.1(chr3:85988337-86080939)x3	CADM2	Copy number gain	not provided	GUncertain significance
Select item 562792	GRCh37/hg19 3p12.1(chr3:85947973-86315425)x1	CADM2	Copy number loss	not provided	GUncertain significance
Select item 562791	GRCh37/hg19 3p12.1(chr3:85304378-85474415)x1	CADM2	Copy number loss	not provided	GLikely benign
Select item 562790	GRCh37/hg19 3p12.2-12.1(chr3:82906524-85764904)x3	CADM2	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393805	GRCh37/hg19 3p12.1(chr3:85119132-85362677)x1	CADM2	Copy number loss	See cases	GLikely benign
Select item 253808	GRCh37/hg19 3p12.2-12.1(chr3:81307181-86030178)x3	CADM2, GBE1	Copy number gain	See cases	GUncertain significance
Select item 226159	GRCh37/hg19 3p12.1(chr3:85561190-85612793)	CADM2	Copy number loss	Abnormal esophagus morphology	GBenign

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Items: 46