Related gene-specific medical variations for Gene (Select 5443) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051127	NM_000939.4(POMC):c.138C>T (p.Cys46=)	LOC129933280, POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 3029663	NM_000939.4(POMC):c.136T>C (p.Cys46Arg)	LOC129933280, POMC (C46R)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 2997702	NM_000939.4(POMC):c.133-19C>T	LOC129933280, POMC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719882	NM_000939.4(POMC):c.143G>A (p.Arg48Gln)	LOC129933280, POMC (R48Q)	Single nucleotide variant (missense variant)	POMC-related disorder +1 more	GUncertain significance
Select item 2634368	NM_000939.4(POMC):c.198C>G (p.Asp66Glu)	LOC129933280, POMC (D66E)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 2584571	NM_000939.4(POMC):c.-20-675A>G	POMC	Single nucleotide variant (intron variant)	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 2502150	NM_000939.4(POMC):c.-21+8C>A	LOC108167315, POMC	Single nucleotide variant (intron variant)	Inherited obesity	GUncertain significance
Select item 2151925	NM_000939.4(POMC):c.176C>T (p.Pro59Leu)	LOC129933280, POMC (P59L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1924255	NM_000939.4(POMC):c.147C>T (p.Ala49=)	LOC129933280, POMC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1706561	NM_000939.4(POMC):c.-21+1G>A	LOC108167315, POMC	Single nucleotide variant (splice donor variant)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 1615590	NM_000939.4(POMC):c.144G>C (p.Arg48=)	LOC129933280, POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339321	NM_000939.4(POMC):c.180del (p.Met60fs)	LOC129933280, POMC (M60fs)	Deletion (frameshift variant)	Obesity	GLikely pathogenic
Select item 1320984	NM_000939.4(POMC):c.169G>A (p.Glu57Lys)	LOC129933280, POMC (E57K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319356	NM_000939.4(POMC):c.297_298insA (p.Ala100fs)	POMC (A100fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 759252	NM_000939.4(POMC):c.186G>A (p.Pro62=)	LOC129933280, POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742519	NM_000939.4(POMC):c.141C>A (p.Ile47=)	LOC129933280, POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591163	NM_000939.4(POMC):c.293_294insAGGCAGCGG (p.Ser98delinsArgGlySerGly)	POMC	Insertion (inframe_indel)	not provided	GUncertain significance
Select item 492966	POMC, 1-BP INS, 6922C	POMC	Insertion	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 436364	NM_000939.4(POMC):c.133-2A>C	LOC129933280, POMC	Single nucleotide variant (splice acceptor variant)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 335357	NM_000939.4(POMC):c.158A>G (p.Asp53Gly)	LOC129933280, POMC (D53G)	Single nucleotide variant (missense variant)	Obesity +3 more	GConflicting classifications of pathogenicity
Select item 13359	POMC, 1-BP DEL, NT6996	POMC	Deletion	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 13358	NM_000939.4(POMC):c.151A>T (p.Lys51Ter)	LOC129933280, POMC (K51*)	Single nucleotide variant (nonsense)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic

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Links from Gene

Items: 22