"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "POMC"[g - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1567506	NM_000939.4(POMC):c.798C>T (p.Gly266=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059980	NM_000939.4(POMC):c.745C>T (p.Pro249Ser)	POMC (P249S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079912	NM_000939.4(POMC):c.716G>A (p.Gly239Asp)	POMC (G239D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13356	NM_000939.4(POMC):c.706C>G (p.Arg236Gly)	POMC (R236G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1935298	NM_000939.4(POMC):c.693G>A (p.Pro231=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211936	NM_000939.4(POMC):c.641A>G (p.Glu214Gly)	POMC (E214G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 895579	NM_000939.4(POMC):c.638C>T (p.Ala213Val)	POMC (A213V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 746351	NM_000939.4(POMC):c.618G>A (p.Glu206=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381722	NM_000939.4(POMC):c.616G>T (p.Glu206Ter)	POMC (E206*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 420163	NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla)	POMC	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 2003812	NM_000939.4(POMC):c.599G>A (p.Gly200Glu)	POMC (G200E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335354	NM_000939.4(POMC):c.585C>T (p.Ala195=)	POMC	Single nucleotide variant (synonymous variant)	Obesity +2 more	GBenign
Select item 716681	NM_000939.4(POMC):c.583G>A (p.Ala195Thr)	POMC (A195T)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1984779	NM_000939.4(POMC):c.557G>A (p.Arg186Gln)	POMC (R186Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677671	NM_000939.4(POMC):c.499G>T (p.Glu167Ter)	POMC (E167*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 895580	NM_000939.4(POMC):c.498C>T (p.Asp166=)	POMC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3018425	NM_000939.4(POMC):c.492C>T (p.Ala164=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368345	NM_000939.4(POMC):c.434G>A (p.Arg145His)	POMC (R145H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 596626	NM_000939.4(POMC):c.430T>C (p.Phe144Leu)	POMC (F144L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978557	NM_000939.4(POMC):c.427C>T (p.His143Tyr)	POMC (H143Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 896986	NM_000939.4(POMC):c.394C>G (p.Pro132Ala)	POMC (P132A)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 728820	NM_000939.4(POMC):c.346C>T (p.Leu116=)	POMC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1969856	NM_000939.4(POMC):c.299C>G (p.Ala100Gly)	POMC (A100G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167896	NM_000939.4(POMC):c.280AGCAGCGGC[11] (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)	POMC	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2146580	NM_000939.4(POMC):c.280AGCAGCGGC[12] (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)	POMC	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 594219	NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4])	POMC	Microsatellite (inframe_insertion)	Obesity due to pro-opiomelanocortin deficiency +2 more	GUncertain significance
Select item 211935	NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3])	POMC	Microsatellite (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 2052930	NM_000939.4(POMC):c.274AGC[7] (p.Ser95_Gly96insSerSerSer)	POMC	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1396815	NM_000939.4(POMC):c.285_286insAGCAGCAGCGGCAGCAGC (p.94_95S[5]GSS[1])	POMC	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1658982	NM_000939.4(POMC):c.285C>T (p.Ser95=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122086	NM_000939.4(POMC):c.283_284delinsCC (p.Ser95Pro)	POMC (S95P)	Indel (missense variant)	not provided	GUncertain significance
Select item 335356	NM_000939.4(POMC):c.282C>T (p.Ser94=)	POMC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2085249	NM_000939.4(POMC):c.280A>G (p.Ser94Gly)	POMC (S94G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 710881	NM_000939.4(POMC):c.261C>A (p.Phe87Leu)	POMC (F87L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1426011	NM_000939.4(POMC):c.255C>G (p.Asp85Glu)	POMC (D85E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001694	NM_000939.4(POMC):c.234C>A (p.Val78=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2151925	NM_000939.4(POMC):c.176C>T (p.Pro59Leu)	LOC129933280, POMC (P59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335357	NM_000939.4(POMC):c.158A>G (p.Asp53Gly)	LOC129933280, POMC (D53G)	Single nucleotide variant (missense variant)	Obesity +2 more	GConflicting classifications of pathogenicity
Select item 1924255	NM_000939.4(POMC):c.147C>T (p.Ala49=)	LOC129933280, POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2719882	NM_000939.4(POMC):c.143G>A (p.Arg48Gln)	LOC129933280, POMC (R48Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2997702	NM_000939.4(POMC):c.133-19C>T	LOC129933280, POMC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989528	NM_000939.4(POMC):c.48del (p.Leu16fs)	POMC (L16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 335358	NM_000939.4(POMC):c.18C>T (p.Cys6=)	POMC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13355	NM_000939.4(POMC):c.-11C>A	POMC	Single nucleotide variant (5 prime UTR variant)	Obesity +2 more	GPathogenic
Select item 3247408	NC_000002.11:g.(?_24443763)_(26068452_?)dup	NCOA1, POMC +9 more	Duplication	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3247406	NC_000002.11:g.(?_24443763)_(25536853_?)del	ADCY3, CENPO +7 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2427540	NC_000002.11:g.(?_24443763)_(26029226_?)del	ADCY3, ASXL2 +9 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2423537	NC_000002.11:g.(?_25383950)_(25523132_?)del	DNMT3A, POMC	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic

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Items: 53