"GeneDx"[submitter] AND "MC2R"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 1184897	NM_000529.2(MC2R):c.767C>T (p.Ser256Phe)	MC2R (S256F)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 492870	NM_000529.2(MC2R):c.634del (p.Arg212fs)	MC2R (R212fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 279974	NM_000529.2(MC2R):c.579_581del (p.Tyr193_Val194delinsTer)	MC2R	Deletion (nonsense)	not provided	GPathogenic
Select item 2442403	NM_000529.2(MC2R):c.307G>A (p.Asp103Asn)	MC2R (D103N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 253656	GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	ANKRD62, MC2R +63 more	Copy number loss	See cases	GPathogenic
Select item 253619	GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	NDUFV2, CETN1 +65 more	Copy number loss	See cases	GPathogenic
Select item 253449	GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4	POTEC, LRRC30 +65 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic