POMP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 147323	GRCh38/hg38 13q12.3(chr13:28566995-29387932)x3	LOC113939938, LOC121838573 +10 more	Copy number gain	See cases	GUncertain significance
Select item 116	NM_015932.5(POMP):c.-95del	POMP	Deletion	not provided	GPathogenic
Select item 2993234	NM_015932.5(POMP):c.-95C>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)	Inborn genetic diseases +2 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)	POMP-related disorder +1 more	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

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