LOC129937086[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 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 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic
Select item 147525	GRCh38/hg38 3p12.1-11.2(chr3:86917979-87234450)x1	CHMP2B, LINC00506 +9 more	Copy number loss	See cases	GUncertain significance
Select item 346802	NM_014043.4(CHMP2B):c.-102C>T	CHMP2B, LOC129937086	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 346803	NM_014043.4(CHMP2B):c.-38C>T	CHMP2B, LOC129937086	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 901455	NM_014043.4(CHMP2B):c.-34G>A	CHMP2B, LOC129937086	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance