ClinVar for Gene (Select 5498) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309305	NM_001122764.3(PPOX):c.1268C>T (p.Thr423Ile)	PPOX (T386I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309304	NM_001122764.3(PPOX):c.271C>T (p.His91Tyr)	PPOX (H96Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3309303	NM_001122764.3(PPOX):c.270C>A (p.Asp90Glu)	PPOX (D90E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3309302	NM_001122764.3(PPOX):c.1024G>A (p.Gly342Arg)	PPOX (G180R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309301	NM_001122764.3(PPOX):c.567A>C (p.Gln189His)	PPOX (Q189H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259472	NM_003779.4(B4GALT3):c.503C>T (p.Thr168Ile)	B4GALT3, PPOX (T168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259462	NM_003779.4(B4GALT3):c.310C>T (p.Arg104Trp)	B4GALT3, PPOX (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259452	NM_003779.4(B4GALT3):c.123T>A (p.Asp41Glu)	B4GALT3, PPOX (D41E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217389	NM_001122764.3(PPOX):c.611G>A (p.Gly204Glu)	PPOX (G42E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132707	NM_003779.4(B4GALT3):c.1117C>T (p.Arg373Trp)	B4GALT3, PPOX (R373W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067865	NM_001122764.3(PPOX):c.87+1G>A	PPOX	Single nucleotide variant (splice donor variant)	Variegate porphyria	GLikely pathogenic
Select item 3029153	NM_001122764.3(PPOX):c.182T>A (p.Ile61Asn)	PPOX (I61N)	Single nucleotide variant (missense variant +1 more)	PPOX-related disorder	GUncertain significance
Select item 3020621	NM_001122764.3(PPOX):c.213C>A (p.Thr71=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011042	NM_001122764.3(PPOX):c.910C>T (p.Arg304Cys)	PPOX (R142C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001467	NM_001122764.3(PPOX):c.809T>C (p.Val270Ala)	PPOX (V108A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000073	NM_001122764.3(PPOX):c.1390C>T (p.Arg464Cys)	PPOX (R302C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986330	NM_001122764.3(PPOX):c.807+13C>G	PPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983325	NM_001122764.3(PPOX):c.800G>A (p.Arg267His)	PPOX (R234H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978229	NM_001122764.3(PPOX):c.1243C>T (p.His415Tyr)	PPOX (H253Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971414	NM_001122764.3(PPOX):c.1325T>A (p.Leu442Ter)	PPOX (L280* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2970102	NM_001122764.3(PPOX):c.616+15A>G	PPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966218	NM_001122764.3(PPOX):c.168T>C (p.Leu56=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903295	NM_001122764.3(PPOX):c.668G>A (p.Arg223His)	PPOX (R61H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899215	NM_001122764.3(PPOX):c.667C>T (p.Arg223Cys)	PPOX (R223C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894196	NM_001122764.3(PPOX):c.82C>A (p.Pro28Thr)	PPOX (P28T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2883271	NM_001122764.3(PPOX):c.684A>G (p.Ser228=)	PPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879702	NM_001122764.3(PPOX):c.987+6A>T	PPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879430	NM_001122764.3(PPOX):c.366C>T (p.Phe122=)	PPOX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2856367	NM_001122764.3(PPOX):c.1097C>T (p.Thr366Ile)	PPOX (T230I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2852848	NM_001122764.3(PPOX):c.1014AGA[1] (p.Glu339del)	PPOX (E203del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2840044	NM_001122764.3(PPOX):c.97G>T (p.Val33Leu)	PPOX (V33L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2810407	NM_001122764.3(PPOX):c.1281G>C (p.Trp427Cys)	PPOX (W427C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807442	NM_001122764.3(PPOX):c.1353T>C (p.Tyr451=)	PPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801097	NM_001122764.3(PPOX):c.441C>G (p.His147Gln)	PPOX (H147Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2771852	NM_001122764.3(PPOX):c.134C>A (p.Ser45Tyr)	PPOX (S45Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2771314	NM_001122764.3(PPOX):c.361C>G (p.Pro121Ala)	PPOX (P121A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2765859	NM_001122764.3(PPOX):c.1316C>G (p.Ala439Gly)	PPOX (A277G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753315	NM_001122764.3(PPOX):c.88-18_88-15del	PPOX	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2751657	NM_001122764.3(PPOX):c.1160A>G (p.Glu387Gly)	PPOX (E251G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748796	NM_001122764.3(PPOX):c.1071C>T (p.Asp357=)	PPOX	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2734010	NM_001122764.3(PPOX):c.1330_1331del (p.Leu444fs)	PPOX (L308fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2734009	NM_001122764.3(PPOX):c.1289dup (p.Glu431fs)	PPOX (E269fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2734007	NM_001122764.3(PPOX):c.251T>G (p.Val84Gly)	PPOX (V89G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2718634	NM_001122764.3(PPOX):c.1065G>C (p.Glu355Asp)	PPOX (E322D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2698622	NM_001122764.3(PPOX):c.972C>T (p.Ala324=)	PPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698072	NM_001122764.3(PPOX):c.1070A>C (p.Asp357Ala)	PPOX (D324A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2665040	NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys)	PPOX (R197C +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria	GUncertain significance
Select item 2662309	NM_001122764.3(PPOX):c.245C>T (p.Ser82Leu)	PPOX (S82L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2637710	NM_001122764.3(PPOX):c.1047C>T (p.Asp349=)	PPOX	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2623303	NM_003779.4(B4GALT3):c.1019C>T (p.Ala340Val)	B4GALT3, PPOX (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612447	NM_003779.4(B4GALT3):c.416G>A (p.Arg139His)	B4GALT3, PPOX (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609799	NM_003779.4(B4GALT3):c.400C>T (p.Arg134Trp)	B4GALT3, PPOX (R134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606602	NM_003779.4(B4GALT3):c.841A>G (p.Thr281Ala)	B4GALT3, PPOX (T281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583134	NM_001122764.3(PPOX):c.571G>T (p.Glu191Ter)	PPOX (E158* +3 more)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 2577468	NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)	PPOX (V270L +3 more)	Single nucleotide variant (missense variant)	Variegate porphyria, childhood-onset	GPathogenic
Select item 2577467	NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)	PPOX	Single nucleotide variant (missense variant +2 more)	Variegate porphyria, childhood-onset	GPathogenic
Select item 2577466	NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys)	PPOX (Y186C +2 more)	Single nucleotide variant (missense variant +1 more)	Variegate porphyria, childhood-onset	GPathogenic
Select item 2577464	NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)	PPOX (G136E +2 more)	Single nucleotide variant (missense variant)	Variegate porphyria, childhood-onset	GPathogenic
Select item 2550320	NM_003779.4(B4GALT3):c.758A>G (p.Asn253Ser)	B4GALT3, PPOX (N253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547968	NM_001122764.3(PPOX):c.1423C>G (p.Pro475Ala)	PPOX (P339A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542371	NM_001122764.3(PPOX):c.79C>G (p.Pro27Ala)	PPOX (P27A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534887	NM_003779.4(B4GALT3):c.644G>A (p.Arg215His)	B4GALT3, PPOX (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515593	NM_001122764.3(PPOX):c.1161G>C (p.Glu387Asp)	PPOX (E251D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511350	NM_003779.4(B4GALT3):c.1091C>T (p.Ala364Val)	B4GALT3, PPOX (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500825	NM_001122764.3(PPOX):c.420del (p.Glu141fs)	B4GALT3, PPOX +1 more (E141fs)	Deletion (frameshift variant +2 more)	Variegate porphyria	GPathogenic
Select item 2497988	NM_001122764.3(PPOX):c.427G>A (p.Asp143Asn)	PPOX (D143N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2494460	NM_001122764.3(PPOX):c.1217T>C (p.Met406Thr)	PPOX (M373T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455724	NM_003779.4(B4GALT3):c.1076C>G (p.Pro359Arg)	B4GALT3, PPOX (P359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446702	NM_001122764.3(PPOX):c.67C>T (p.Arg23Trp)	PPOX (R23W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435222	NM_001122764.3(PPOX):c.761G>A (p.Gly254Asp)	PPOX (G118D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416403	NM_001122764.3(PPOX):c.1248+19C>T	PPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2407925	NM_001122764.3(PPOX):c.1139G>C (p.Ser380Thr)	PPOX (S347T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404148	NM_001122764.3(PPOX):c.583C>T (p.Arg195Cys)	PPOX (R59C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392551	NM_001122764.3(PPOX):c.799C>T (p.Arg267Cys)	PPOX (R131C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2388826	NM_003779.4(B4GALT3):c.17T>C (p.Leu6Pro)	B4GALT3, PPOX (L6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382026	NM_001122764.3(PPOX):c.82C>G (p.Pro28Ala)	PPOX (P28A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2346963	NM_003779.4(B4GALT3):c.1162G>T (p.Ala388Ser)	B4GALT3, PPOX (A388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330935	NM_003779.4(B4GALT3):c.202C>T (p.Pro68Ser)	B4GALT3, PPOX (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314878	NM_001122764.3(PPOX):c.1115C>A (p.Ser372Tyr)	PPOX (S335Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304447	NM_001122764.3(PPOX):c.1259C>G (p.Pro420Arg)	PPOX (P383R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294745	NM_001122764.3(PPOX):c.1003G>A (p.Val335Met)	PPOX (V173M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288261	NM_003779.4(B4GALT3):c.727G>A (p.Asp243Asn)	B4GALT3, PPOX (D243N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259622	NM_001122764.3(PPOX):c.332G>T (p.Gly111Val)	PPOX (G111V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2254089	NM_001122764.3(PPOX):c.689G>A (p.Arg230His)	PPOX (R68H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244906	NM_001122764.3(PPOX):c.278C>T (p.Ala93Val)	PPOX (A98V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2217510	NM_003779.4(B4GALT3):c.119G>A (p.Arg40Gln)	B4GALT3, PPOX (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208698	NM_003779.4(B4GALT3):c.634C>T (p.Arg212Trp)	B4GALT3, PPOX (R212W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202874	NM_001122764.3(PPOX):c.1287del (p.Lys429fs)	PPOX (K392fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2202873	NM_001122764.3(PPOX):c.1082dup (p.Gly362fs)	PPOX (G226fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2202872	NM_001122764.3(PPOX):c.916_917del (p.Leu306fs)	PPOX (L170fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2202871	NM_001122764.3(PPOX):c.218T>C (p.Leu73Pro)	PPOX (L73P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2202870	NM_001122764.3(PPOX):c.-9G>A	PPOX	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2190445	NM_001122764.3(PPOX):c.1421A>G (p.Glu474Gly)	PPOX (E441G +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2180677	NM_001122764.3(PPOX):c.988-3C>T	PPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2151517	NM_001122764.3(PPOX):c.322C>G (p.Leu108Val)	PPOX (L108V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2130704	NM_001122764.3(PPOX):c.157A>G (p.Ile53Val)	PPOX (I53V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127253	NM_001122764.3(PPOX):c.1164G>C (p.Leu388=)	PPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102031	NM_001122764.3(PPOX):c.1154C>T (p.Ser385Phe)	PPOX (S223F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071770	NM_001122764.3(PPOX):c.747C>G (p.Val249=)	PPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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