POMP[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 116	NC_000013.11:g.28659090del	POMP	Deletion	not provided	GPathogenic
Select item 2993234	NC_000013.11:g.28659090C>T	POMP	Single nucleotide variant	not provided	GUncertain significance
Select item 2785605	NM_015932.6(POMP):c.3+3G>C	POMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2984415	NM_015932.6(POMP):c.3+4A>G	POMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2132291	NM_015932.6(POMP):c.3+7G>A	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900005	NM_015932.6(POMP):c.3+13C>T	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646846	NM_015932.6(POMP):c.3+14C>T	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601637	NM_015932.6(POMP):c.3+19G>C	POMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255316	NM_015932.6(POMP):c.4-201A>T	POMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288406	NM_015932.6(POMP):c.4-58C>T	POMP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2041595	NM_015932.6(POMP):c.4-14del	POMP	Deletion (intron variant)	not provided	GBenign
Select item 2052971	NM_015932.6(POMP):c.4-11T>C	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800223	NM_015932.6(POMP):c.4-7G>A	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2298190	NM_015932.6(POMP):c.17T>C (p.Leu6Pro)	POMP (L6P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1991235	NM_015932.6(POMP):c.27_35del (p.Glu9_Lys11del)	POMP	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2793484	NM_015932.6(POMP):c.38G>A (p.Ser13Asn)	POMP (S13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923865	NM_015932.6(POMP):c.42T>G (p.Ile14Met)	POMP (I14M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440852	NM_015932.6(POMP):c.43C>T (p.Pro15Ser)	POMP (P15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848611	NM_015932.6(POMP):c.45A>C (p.Pro15=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082319	NM_015932.6(POMP):c.45A>T (p.Pro15=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465765	NM_015932.6(POMP):c.50C>T (p.Thr17Ile)	POMP (T17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974201	NM_015932.6(POMP):c.58T>C (p.Ser20Pro)	POMP (S20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954034	NM_015932.6(POMP):c.61G>T (p.Ala21Ser)	POMP (A21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871389	NM_015932.6(POMP):c.67G>A (p.Gly23Arg)	POMP (G23R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449348	NM_015932.6(POMP):c.83A>C (p.His28Pro)	POMP (H28P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1509396	NM_015932.6(POMP):c.88C>T (p.Leu30Phe)	POMP (L30F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492095	NM_015932.6(POMP):c.91C>T (p.Leu31Phe)	POMP (L31F)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 2 +3 more	GUncertain significance
Select item 2975427	NM_015932.6(POMP):c.94C>T (p.Arg32Trp)	POMP (R32W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497892	NM_015932.6(POMP):c.95G>A (p.Arg32Gln)	POMP (R32Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168426	NM_015932.6(POMP):c.101+9G>A	POMP	Single nucleotide variant (intron variant)	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome +2 more	GBenign/Likely benign
Select item 2825584	NM_015932.6(POMP):c.101+12A>T	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011456	NM_015932.6(POMP):c.101+19A>G	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654219	NM_015932.6(POMP):c.101+20C>T	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241797	NM_015932.6(POMP):c.102-70T>C	POMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1634586	NM_015932.6(POMP):c.102-14T>A	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854849	NM_015932.6(POMP):c.102-10_102-9del	POMP	Deletion (intron variant)	not provided	GLikely benign
Select item 1922984	NM_015932.6(POMP):c.112G>C (p.Val38Leu)	POMP (V38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1437956	NM_015932.6(POMP):c.113T>C (p.Val38Ala)	POMP (V38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1922973	NM_015932.6(POMP):c.119A>G (p.Asn40Ser)	POMP (N40S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424489	NM_015932.6(POMP):c.131C>T (p.Pro44Leu)	POMP (P44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2294744	NM_015932.6(POMP):c.136C>T (p.His46Tyr)	POMP (H46Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3003034	NM_015932.6(POMP):c.145G>C (p.Glu49Gln)	POMP (E49Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715147	NM_015932.6(POMP):c.146A>G (p.Glu49Gly)	POMP (E49G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1113381	NM_015932.6(POMP):c.150A>G (p.Leu50=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425976	NM_015932.6(POMP):c.162+1G>T	POMP	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3019290	NM_015932.6(POMP):c.162+7A>T	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792195	NM_015932.6(POMP):c.162+9A>G	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105950	NM_015932.6(POMP):c.163-19A>G	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908626	NM_015932.6(POMP):c.163-17T>C	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2000450	NM_015932.6(POMP):c.163-16del	POMP	Deletion (intron variant)	not provided	GLikely benign
Select item 1169005	NM_015932.6(POMP):c.163-11G>A	POMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343678	NM_015932.6(POMP):c.163-5del	POMP	Deletion (intron variant)	not specified	GUncertain significance
Select item 1422782	NM_015932.6(POMP):c.163-5T>G	POMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870887	NM_015932.6(POMP):c.168G>A (p.Gln56=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371381	NM_015932.6(POMP):c.168G>C (p.Gln56His)	POMP (Q56H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1998452	NM_015932.6(POMP):c.170T>C (p.Leu57Pro)	POMP (L57P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662668	NM_015932.6(POMP):c.171C>G (p.Leu57=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632826	NM_015932.6(POMP):c.171C>T (p.Leu57=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123838	NM_015932.6(POMP):c.177A>G (p.Gln59=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907945	NM_015932.6(POMP):c.183A>G (p.Lys61=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719180	NM_015932.6(POMP):c.187A>T (p.Asn63Tyr)	POMP (N63Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2330892	NM_015932.6(POMP):c.194C>T (p.Ser65Phe)	POMP (S65F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364663	NM_015932.6(POMP):c.194C>G (p.Ser65Cys)	POMP (S65C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938473	NM_015932.6(POMP):c.219A>G (p.Leu73=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572651	NM_015932.6(POMP):c.219A>C (p.Leu73=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505681	NM_015932.6(POMP):c.226C>A (p.Pro76Thr)	POMP (P76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392303	NM_015932.6(POMP):c.226C>T (p.Pro76Ser)	POMP (P76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614778	NM_015932.6(POMP):c.228G>A (p.Pro76=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919194	NM_015932.6(POMP):c.246A>G (p.Glu82=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1384807	NM_015932.6(POMP):c.254C>T (p.Ala85Val)	POMP (A85V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500851	NM_015932.6(POMP):c.259C>G (p.Gln87Glu)	POMP (Q87E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950945	NM_015932.6(POMP):c.263A>G (p.Gln88Arg)	POMP (Q88R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640393	NM_015932.6(POMP):c.264+7T>C	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264933	NM_015932.6(POMP):c.265-270A>G	POMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1642869	NM_015932.6(POMP):c.265-19T>G	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649636	NM_015932.6(POMP):c.265-14A>T	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088091	NM_015932.6(POMP):c.265-8C>A	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554188	NM_015932.6(POMP):c.265-4A>G	POMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1685031	NM_015932.6(POMP):c.265-1G>C	POMP	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2191863	NM_015932.6(POMP):c.309T>C (p.Asp103=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982125	NM_015932.6(POMP):c.311T>C (p.Val104Ala)	POMP (V104A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634388	NM_015932.6(POMP):c.318G>A (p.Arg106=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720759	NM_015932.6(POMP):c.320G>A (p.Gly107Asp)	POMP (G107D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324850	NM_015932.6(POMP):c.322A>C (p.Asn108His)	POMP (N108H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1668861	NM_015932.6(POMP):c.324T>C (p.Asn108=)	POMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546726	NM_015932.6(POMP):c.326dup (p.Asp109fs)	POMP (D109fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 522801	NM_015932.6(POMP):c.334_335del (p.Ile112fs)	POMP (I112fs)	Deletion (frameshift variant)	Proteasome-associated autoinflammatory syndrome 2 +1 more	GPathogenic
Select item 2788074	NM_015932.6(POMP):c.334A>C (p.Ile112Leu)	POMP (I112L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193277	NM_015932.6(POMP):c.334A>G (p.Ile112Val)	POMP (I112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2609879	NM_015932.6(POMP):c.335T>C (p.Ile112Thr)	POMP (I112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 548959	NM_015932.6(POMP):c.340_344dup (p.Glu115fs)	POMP (E115fs)	Duplication (frameshift variant)	Proteasome-associated autoinflammatory syndrome 2	GPathogenic
Select item 548960	NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs)	POMP (F114fs)	Indel (frameshift variant)	Proteasome-associated autoinflammatory syndrome 2	GPathogenic
Select item 1524474	NM_015932.6(POMP):c.358+4A>G	POMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2815883	NM_015932.6(POMP):c.358+5G>A	POMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2128088	NM_015932.6(POMP):c.358+24_358+25insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATTCAGCACCTTTTT	POMP	Insertion (intron variant)	not provided	GUncertain significance
Select item 1529973	NM_015932.6(POMP):c.359-12G>C	POMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1655272	NM_015932.6(POMP):c.359-8_359-5del	POMP	Deletion (intron variant)	not provided	GLikely benign
Select item 2049532	NM_015932.6(POMP):c.368A>G (p.Gln123Arg)	POMP (Q123R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074124	NM_015932.6(POMP):c.372C>T (p.Ser124=)	POMP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2093350	NM_015932.6(POMP):c.373G>A (p.Glu125Lys)	POMP (E125K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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