"GeneDx"[submitter] AND "LETM1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 more	Copy number loss	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 1166789	NM_012318.3(LETM1):c.1791G>A (p.Lys597=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2662487	NM_012318.3(LETM1):c.1605G>C (p.Leu535Phe)	LETM1 (L535F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712746	NM_012318.3(LETM1):c.1333-1G>C	LETM1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 152442	GRCh38/hg38 4p16.3(chr4:1825301-1859026)x1	LETM1, LOC129992013 +1 more	Copy number loss	See cases	GLikely pathogenic
Select item 1300223	NM_012318.3(LETM1):c.1178G>A (p.Arg393His)	LETM1 (R393H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372945	NM_012318.3(LETM1):c.903C>A (p.Ser301Arg)	LETM1 (S301R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300217	NM_012318.3(LETM1):c.898C>T (p.Pro300Ser)	LETM1 (P300S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1286584	NM_012318.3(LETM1):c.595-10C>T	LETM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	ABLIM2, ACOX3 +89 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253474	GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1	NSD2, FGFR3 +17 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24