PITPNM2[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 152933	GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	ABCB9, ARL6IP4 +38 more	Copy number gain	See cases	GUncertain significance
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 2492910	NM_020845.3(PITPNM2):c.4036G>A (p.Ala1346Thr)	PITPNM2 (A1275T +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265036	NM_020845.3(PITPNM2):c.4016G>A (p.Arg1339His)	PITPNM2 (R1398H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213274	NM_020845.3(PITPNM2):c.4015C>G (p.Arg1339Gly)	PITPNM2 (R1339G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216064	NM_020845.3(PITPNM2):c.4015C>T (p.Arg1339Cys)	PITPNM2 (R1268C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602451	NM_020845.3(PITPNM2):c.3975G>A (p.Met1325Ile)	PITPNM2 (M1268I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277398	NM_020845.3(PITPNM2):c.3959G>C (p.Arg1320Pro)	PITPNM2 (R1249P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209321	NM_020845.3(PITPNM2):c.3920G>A (p.Arg1307Gln)	PITPNM2 (R1253Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558021	NM_020845.3(PITPNM2):c.3911C>G (p.Pro1304Arg)	PITPNM2 (P1247R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217529	NM_020845.3(PITPNM2):c.3869G>A (p.Arg1290Gln)	PITPNM2 (R1284Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299264	NM_020845.3(PITPNM2):c.3863G>A (p.Arg1288His)	PITPNM2 (R1217H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352186	NM_020845.3(PITPNM2):c.3844G>A (p.Gly1282Ser)	PITPNM2 (G1211S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329498	NM_020845.3(PITPNM2):c.3821G>A (p.Arg1274His)	PITPNM2 (R1268H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213272	NM_020845.3(PITPNM2):c.3809G>A (p.Arg1270His)	PITPNM2 (R1199H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266821	NM_020845.3(PITPNM2):c.3808C>T (p.Arg1270Cys)	PITPNM2 (R1270C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462980	NM_020845.3(PITPNM2):c.3794G>A (p.Arg1265His)	PITPNM2 (R1208H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213271	NM_020845.3(PITPNM2):c.3793C>T (p.Arg1265Cys)	PITPNM2 (R1324C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485046	NM_020845.3(PITPNM2):c.3782C>T (p.Ala1261Val)	PITPNM2 (A1190V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213270	NM_020845.3(PITPNM2):c.3745G>A (p.Ala1249Thr)	PITPNM2 (A1243T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213269	NM_020845.3(PITPNM2):c.3564C>G (p.His1188Gln)	PITPNM2 (H1182Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254882	NM_020845.3(PITPNM2):c.3544G>A (p.Val1182Met)	PITPNM2 (V1268M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213268	NM_020845.3(PITPNM2):c.3520G>A (p.Val1174Met)	PITPNM2 (V1117M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405230	NM_020845.3(PITPNM2):c.3358G>A (p.Val1120Met)	PITPNM2 (V1114M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473406	NM_020845.3(PITPNM2):c.3352G>A (p.Ala1118Thr)	PITPNM2 (A1061T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213266	NM_020845.3(PITPNM2):c.3283G>T (p.Asp1095Tyr)	PITPNM2 (D1089Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296905	NM_020845.3(PITPNM2):c.3157C>T (p.Leu1053Phe)	PITPNM2 (L1139F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376432	NM_020845.3(PITPNM2):c.3153G>T (p.Glu1051Asp)	PITPNM2 (E1051D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213265	NM_020845.3(PITPNM2):c.3074T>C (p.Met1025Thr)	PITPNM2 (M968T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213264	NM_020845.3(PITPNM2):c.2986G>A (p.Val996Met)	PITPNM2 (V939M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213263	NM_020845.3(PITPNM2):c.2933C>T (p.Ser978Leu)	PITPNM2 (S921L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335122	NM_020845.3(PITPNM2):c.2774T>C (p.Leu925Pro)	PITPNM2 (L1011P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2531887	NM_020845.3(PITPNM2):c.2681G>A (p.Ser894Asn)	PITPNM2 (S837N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213262	NM_020845.3(PITPNM2):c.2672G>A (p.Arg891Lys)	PITPNM2 (R977K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304230	NM_020845.3(PITPNM2):c.2663C>T (p.Pro888Leu)	PITPNM2 (P974L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213261	NM_020845.3(PITPNM2):c.2609G>A (p.Arg870His)	PITPNM2 (R956H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317902	NM_020845.3(PITPNM2):c.2602G>A (p.Val868Ile)	PITPNM2 (V811I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549677	NM_020845.3(PITPNM2):c.2549C>T (p.Thr850Met)	PITPNM2 (T793M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213260	NM_020845.3(PITPNM2):c.2449G>A (p.Ala817Thr)	PITPNM2 (A903T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2643508	NM_020845.3(PITPNM2):c.2404+741G>A	PITPNM2 (E849K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2395949	NM_020845.3(PITPNM2):c.2396C>T (p.Thr799Met)	PITPNM2 (T782M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324608	NM_020845.3(PITPNM2):c.2342C>T (p.Pro781Leu)	PITPNM2 (P781L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481505	NM_020845.3(PITPNM2):c.2120A>T (p.Asp707Val)	PITPNM2 (D707V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473409	NM_020845.3(PITPNM2):c.2099C>G (p.Ser700Cys)	PITPNM2 (S700C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314841	NM_020845.3(PITPNM2):c.2035C>T (p.His679Tyr)	PITPNM2 (H679Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314307	NM_020845.3(PITPNM2):c.1964A>T (p.Glu655Val)	PITPNM2 (E655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620510	NM_020845.3(PITPNM2):c.1963G>A (p.Glu655Lys)	PITPNM2 (E655K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457313	NM_020845.3(PITPNM2):c.1858G>A (p.Gly620Ser)	PITPNM2 (G620S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643509	NM_020845.3(PITPNM2):c.1768G>A (p.Val590Met)	PITPNM2 (V590M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2355657	NM_020845.3(PITPNM2):c.1655A>G (p.Asn552Ser)	PITPNM2 (N552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222774	NM_020845.3(PITPNM2):c.1601G>A (p.Arg534Gln)	PITPNM2 (R534Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279929	NM_020845.3(PITPNM2):c.1498G>A (p.Gly500Ser)	PITPNM2 (G500S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306169	NM_020845.3(PITPNM2):c.1453G>A (p.Ala485Thr)	PITPNM2 (A485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590538	NM_020845.3(PITPNM2):c.1441G>A (p.Val481Ile)	PITPNM2 (V481I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231575	NM_020845.3(PITPNM2):c.1421G>A (p.Arg474His)	PITPNM2 (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209294	NM_020845.3(PITPNM2):c.1408C>T (p.Arg470Cys)	PITPNM2 (R470C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315878	NM_020845.3(PITPNM2):c.1394C>T (p.Pro465Leu)	PITPNM2 (P465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340819	NM_020845.3(PITPNM2):c.1361A>C (p.Asn454Thr)	PITPNM2 (N454T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354280	NM_020845.3(PITPNM2):c.1357G>A (p.Ala453Thr)	PITPNM2 (A453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462511	NM_020845.3(PITPNM2):c.1325C>T (p.Pro442Leu)	PITPNM2 (P442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213258	NM_020845.3(PITPNM2):c.1315G>A (p.Ala439Thr)	PITPNM2 (A439T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364315	NM_020845.3(PITPNM2):c.1166G>A (p.Arg389His)	PITPNM2 (R389H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301378	NM_020845.3(PITPNM2):c.1166G>T (p.Arg389Leu)	PITPNM2 (R389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314777	NM_020845.3(PITPNM2):c.1085A>G (p.Asp362Gly)	PITPNM2 (D362G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314776	NM_020845.3(PITPNM2):c.1060G>A (p.Asp354Asn)	PITPNM2 (D354N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314306	NM_020845.3(PITPNM2):c.1010C>T (p.Ser337Leu)	PITPNM2 (S337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378398	NM_020845.3(PITPNM2):c.965G>A (p.Arg322His)	PITPNM2 (R322H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600756	NM_020845.3(PITPNM2):c.935G>A (p.Arg312Gln)	PITPNM2 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529567	NM_020845.3(PITPNM2):c.886G>A (p.Val296Met)	PITPNM2 (V296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608602	NM_020845.3(PITPNM2):c.869G>C (p.Ser290Thr)	PITPNM2 (S290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549631	NM_020845.3(PITPNM2):c.826G>A (p.Val276Ile)	PITPNM2 (V276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213275	NM_020845.3(PITPNM2):c.543G>T (p.Lys181Asn)	PITPNM2 (K181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382548	NM_020845.3(PITPNM2):c.520G>A (p.Glu174Lys)	PITPNM2 (E174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354137	NM_020845.3(PITPNM2):c.438C>A (p.Asp146Glu)	PITPNM2 (D146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213267	NM_020845.3(PITPNM2):c.328G>T (p.Asp110Tyr)	PITPNM2 (D110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533662	NM_020845.3(PITPNM2):c.223T>G (p.Ser75Ala)	PITPNM2 (S75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	LOC129390584, LOC130009080 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	DDX55, DENR +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3063249	GRCh37/hg19 12q24.31(chr12:123586597-124015352)x3	CDK2AP1, KMT5A +7 more	Copy number gain	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 97