PAN2[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2248405	NM_014871.6(PAN2):c.3566C>T (p.Ala1189Val)	PAN2 (A1123V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208308	NM_014871.6(PAN2):c.3542A>G (p.Glu1181Gly)	PAN2 (E1042G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257867	NM_014871.6(PAN2):c.3478C>T (p.His1160Tyr)	PAN2 (H1159Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216430	NM_014871.6(PAN2):c.3410G>A (p.Arg1137His)	PAN2 (R1136H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305456	NM_014871.6(PAN2):c.3409C>T (p.Arg1137Cys)	PAN2 (R1141C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342924	NM_014871.6(PAN2):c.3399dup (p.Glu1134Ter)	PAN2 (E1133* +4 more)	Duplication (nonsense +1 more)	PAN2-related multiple congenital anomalies syndrome	GLikely pathogenic
Select item 2578253	NM_014871.6(PAN2):c.3383A>G (p.Glu1128Gly)	PAN2 (E1127G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3208307	NM_014871.6(PAN2):c.3382G>A (p.Glu1128Lys)	PAN2 (E1132K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208306	NM_014871.6(PAN2):c.3205A>G (p.Ile1069Val)	PAN2 (I1072V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375145	NM_014871.6(PAN2):c.3044A>G (p.Asn1015Ser)	PAN2 (N1018S +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2477779	NM_014871.6(PAN2):c.3003G>T (p.Met1001Ile)	PAN2 (M1004I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208305	NM_014871.6(PAN2):c.2963G>A (p.Arg988His)	PAN2 (R987H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208304	NM_014871.6(PAN2):c.2962C>T (p.Arg988Cys)	PAN2 (R988C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3371488	NM_014871.6(PAN2):c.2945A>G (p.Glu982Gly)	PAN2 (E843G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573034	NM_014871.6(PAN2):c.2915G>T (p.Gly972Val)	PAN2 (G833V +4 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2279441	NM_014871.6(PAN2):c.2901T>G (p.Ile967Met)	PAN2 (I966M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305637	NM_014871.6(PAN2):c.2893C>T (p.Pro965Ser)	PAN2 (P968S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208303	NM_014871.6(PAN2):c.2840G>A (p.Arg947Gln)	PAN2 (R950Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369127	NM_014871.6(PAN2):c.2797C>T (p.Pro933Ser)	PAN2 (P933S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208302	NM_014871.6(PAN2):c.2685A>T (p.Glu895Asp)	PAN2 (E894D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391976	NM_014871.6(PAN2):c.2641G>A (p.Val881Ile)	PAN2 (V742I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272777	NM_014871.6(PAN2):c.2630G>A (p.Arg877His)	PAN2 (R738H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051341	NM_014871.6(PAN2):c.2580_2581del (p.Gly862fs)	PAN2 (G723fs +4 more)	Deletion (frameshift variant)	PAN2-related disorder	GUncertain significance
Select item 2405408	NM_014871.6(PAN2):c.2531A>G (p.Tyr844Cys)	PAN2 (Y705C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380927	NM_014871.6(PAN2):c.2423C>A (p.Ser808Tyr)	PAN2 (S669Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250319	NM_014871.6(PAN2):c.2383C>T (p.Pro795Ser)	PAN2 (P799S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3363958	NM_014871.6(PAN2):c.2346-1G>A	PAN2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1342923	NM_014871.6(PAN2):c.2326G>T (p.Glu776Ter)	PAN2 (E637* +4 more)	Single nucleotide variant (nonsense)	PAN2-related multiple congenital anomalies syndrome	GLikely pathogenic
Select item 2590589	NM_014871.6(PAN2):c.2315C>T (p.Ser772Phe)	PAN2 (S633F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304175	NM_014871.6(PAN2):c.2314T>C (p.Ser772Pro)	PAN2 (S633P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208301	NM_014871.6(PAN2):c.2287G>T (p.Ala763Ser)	PAN2 (A763S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730839	NM_014871.6(PAN2):c.2169C>T (p.Pro723=)	PAN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3208300	NM_014871.6(PAN2):c.2065G>C (p.Asp689His)	PAN2 (D550H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208299	NM_014871.6(PAN2):c.2054C>A (p.Ser685Tyr)	PAN2 (S546Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304172	NM_014871.6(PAN2):c.2003G>A (p.Arg668His)	PAN2 (R668H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065839	NM_014871.6(PAN2):c.1903C>T (p.Gln635Ter)	PAN2 (Q496* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 785414	NM_014871.6(PAN2):c.1897A>G (p.Ile633Val)	PAN2 (I633V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2256724	NM_014871.6(PAN2):c.1891C>G (p.Leu631Val)	PAN2 (L492V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304173	NM_014871.6(PAN2):c.1882A>G (p.Met628Val)	PAN2 (M489V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329598	NM_014871.6(PAN2):c.1724G>A (p.Cys575Tyr)	PAN2 (C575Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717735	NM_014871.6(PAN2):c.1712G>A (p.Arg571His)	PAN2 (R571H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2287451	NM_014871.6(PAN2):c.1705C>T (p.Leu569Phe)	PAN2 (L569F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3369427	NM_014871.6(PAN2):c.1661del (p.Phe554fs)	PAN2 (F415fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3208298	NM_014871.6(PAN2):c.1643A>G (p.His548Arg)	PAN2 (H409R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208296	NM_014871.6(PAN2):c.1576G>A (p.Ala526Thr)	PAN2 (A526T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208294	NM_014871.6(PAN2):c.1475G>A (p.Arg492His)	PAN2 (R353H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208293	NM_014871.6(PAN2):c.1438G>A (p.Glu480Lys)	PAN2 (E341K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485640	NM_014871.6(PAN2):c.1420T>G (p.Ser474Ala)	PAN2 (S335A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280198	NM_014871.6(PAN2):c.1415C>G (p.Thr472Ser)	PAN2 (T333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623540	NM_014871.6(PAN2):c.1347G>C (p.Arg449Ser)	PAN2 (R449S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208292	NM_014871.6(PAN2):c.1282G>C (p.Ala428Pro)	PAN2 (A428P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364223	NM_014871.6(PAN2):c.1276G>A (p.Val426Met)	PAN2 (V426M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365174	NM_014871.6(PAN2):c.1263-2A>T	PAN2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3208291	NM_014871.6(PAN2):c.1207A>T (p.Thr403Ser)	PAN2 (T403S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208289	NM_014871.6(PAN2):c.1193T>A (p.Ile398Asn)	PAN2 (I398N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594678	NM_014871.6(PAN2):c.1138G>A (p.Val380Met)	PAN2 (V241M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461747	NM_014871.6(PAN2):c.1109G>A (p.Arg370His)	PAN2 (R231H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349435	NM_014871.6(PAN2):c.1108del (p.Arg370fs)	PAN2 (R231fs +1 more)	Deletion (frameshift variant)	PAN2-related disorder	GUncertain significance
Select item 3208288	NM_014871.6(PAN2):c.1006T>A (p.Phe336Ile)	PAN2 (F197I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334642	NM_014871.6(PAN2):c.976G>A (p.Val326Met)	PAN2 (V326M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208312	NM_014871.6(PAN2):c.956A>G (p.Asn319Ser)	PAN2 (N319S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458318	NM_014871.6(PAN2):c.802A>C (p.Lys268Gln)	PAN2 (K268Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270866	NM_014871.6(PAN2):c.794G>A (p.Arg265His)	PAN2 (R126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208311	NM_014871.6(PAN2):c.769C>T (p.Arg257Cys)	PAN2 (R118C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393473	NM_014871.6(PAN2):c.761T>A (p.Phe254Tyr)	PAN2 (F115Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357211	NM_014871.6(PAN2):c.700G>T (p.Ala234Ser)	PAN2 (A95S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508580	NM_014871.6(PAN2):c.671G>A (p.Arg224His)	PAN2 (R85H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304174	NM_014871.6(PAN2):c.670C>T (p.Arg224Cys)	PAN2 (R85C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208310	NM_014871.6(PAN2):c.587C>T (p.Thr196Met)	PAN2 (T57M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342925	NM_014871.6(PAN2):c.574-2A>G	PAN2	Single nucleotide variant (splice acceptor variant)	PAN2-related multiple congenital anomalies syndrome	GLikely pathogenic
Select item 2454401	NM_014871.6(PAN2):c.554C>T (p.Thr185Ile)	PAN2 (T185I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304171	NM_014871.6(PAN2):c.502A>G (p.Thr168Ala)	PAN2 (T29A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208309	NM_014871.6(PAN2):c.469G>T (p.Asp157Tyr)	PAN2 (D157Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317404	NM_014871.6(PAN2):c.336A>C (p.Gln112His)	PAN2 (Q112H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278255	NM_014871.6(PAN2):c.286C>T (p.His96Tyr)	PAN2 (H96Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605102	NM_014871.6(PAN2):c.283G>A (p.Gly95Ser)	PAN2 (G95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208295	NM_014871.6(PAN2):c.148C>T (p.Pro50Ser)	PAN2 (P50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328124	NM_014871.6(PAN2):c.95G>A (p.Ser32Asn)	PAN2 (S32N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304176	NM_014871.6(PAN2):c.23C>A (p.Pro8His)	PAN2 (P8H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 87