"GeneDx"[submitter] AND "LEP"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 358814	NM_000230.3(LEP):c.-39G>A	LEP, LOC106728418	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 910456	NM_000230.3(LEP):c.53A>G (p.Tyr18Cys)	LEP (Y18C)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 778362	NM_000230.3(LEP):c.75A>G (p.Gln25=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1220903	NM_000230.3(LEP):c.145-217G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707063	NM_000230.3(LEP):c.145-209G>T	LEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247016	NM_000230.3(LEP):c.145-152G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211617	NM_000230.3(LEP):c.145-116G>C	LEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294302	NM_000230.3(LEP):c.145-107G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266247	NM_000230.3(LEP):c.145-50C>T	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 358819	NM_000230.3(LEP):c.280G>A (p.Val94Met)	LEP (V94M)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign/Likely benign
Select item 783831	NM_000230.3(LEP):c.309C>T (p.Asn103=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 13986	NM_000230.3(LEP):c.398del (p.Gly133fs)	LEP (G133fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 358820	NM_000230.3(LEP):c.*34G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GConflicting classifications of pathogenicity
Select item 1707392	NM_000230.3(LEP):c.*229C>G	LEP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic