ClinVar for MedGen (Select 462081) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068483	NM_001130438.3(SPTAN1):c.1462-2A>G	SPTAN1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 3066357	NM_001130438.3(SPTAN1):c.3014G>A (p.Trp1005Ter)	SPTAN1 (W1005* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 3066258	NM_001130438.3(SPTAN1):c.121G>T (p.Glu41Ter)	SPTAN1 (E41* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 3065093	NM_001130438.3(SPTAN1):c.7174T>G (p.Ser2392Ala)	SPTAN1 (S2367A +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 3065071	NM_001130438.3(SPTAN1):c.3886G>A (p.Ala1296Thr)	SPTAN1 (A1276T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 3061890	NM_001130438.3(SPTAN1):c.3007-2A>G	SPTAN1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 2627514	NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)	SPTAN1 (E13Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2582657	NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)	SPTAN1 (S658R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2582524	NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)	SPTAN1 (H1831fs +4 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 2505559	NM_001130438.3(SPTAN1):c.6016A>T (p.Thr2006Ser)	SPTAN1 (T1981S +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely benign
Select item 2442060	NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)	SPTAN1 (F1430L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2431388	NM_001130438.3(SPTAN1):c.3626A>C (p.Lys1209Thr)	SPTAN1 (K1189T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2188311	NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)	SPTAN1 (P2379L +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1878662	NM_001130438.3(SPTAN1):c.5804G>A (p.Cys1935Tyr)	SPTAN1 (C1910Y +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1806160	NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)	SPTAN1 (A961T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely benign
Select item 1805232	NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)	SPTAN1 (F46L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1804136	NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)	SPTAN1 (D1501Y +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1804130	NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)	SPTAN1	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 1709560	NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)	SPTAN1	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1707716	NC_000009.11:g.(?_131382516)_(131393966_?)del	SPTAN1	Deletion	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 1701629	NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe)	SPTAN1 (S2385F +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 1699257	NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr)	SPTAN1 (A570T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1693306	NM_001130438.3(SPTAN1):c.4804G>A (p.Ala1602Thr)	SPTAN1 (A1577T +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1686228	NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup)	SPTAN1	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 1685144	NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)	SPTAN1 (R2230H +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1684519	NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter)	SPTAN1 (R25* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1679604	NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys)	SPTAN1 (E1203K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 1679267	NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu)	SPTAN1 (K1648E +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1676440	NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)	SPTAN1 (Q404* +1 more)	Single nucleotide variant	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1437007	NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln)	SPTAN1 (E2072Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1391770	NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met)	SPTAN1 (T2283M +8 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 1333719	NM_001130438.3(SPTAN1):c.5392G>T (p.Gly1798Cys)	SPTAN1 (G1773C +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1331519	NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter)	SPTAN1 (D281* +1 more)	Duplication (nonsense)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1325814	NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5	GLikely benign
Select item 1325797	NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)	SPTAN1 (A306V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1325796	NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)	SPTAN1 (G178D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1325795	NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)	SPTAN1	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1325794	NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)	SPTAN1 (D2259del +8 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1325793	NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)	SPTAN1 (N2183del +5 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1325792	NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)	SPTAN1 (R1751W +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1321259	NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met)	SPTAN1 (V1657M +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1187699	NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)	SPTAN1 (R1311S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GUncertain significance
Select item 1169465	NM_001130438.3(SPTAN1):c.6763-6C>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign
Select item 1108098	NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His)	SPTAN1 (D1309H +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1065462	NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)	SPTAN1 (R139* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1064825	NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)	SPTAN1 (R2037W +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1042134	NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr)	SPTAN1 (A2372T +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 1041606	NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln)	SPTAN1 (R1371Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1033316	NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn)	SPTAN1 (D1239N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1033315	NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser)	SPTAN1 (A820S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1027548	NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln)	SPTAN1 (L1527Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1015715	NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)	SPTAN1 (R1078C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 1015065	NM_001130438.3(SPTAN1):c.7160+5_7160+9del	SPTAN1	Deletion (splice donor variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 996072	NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro)	SPTAN1 (Q1428P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 988585	NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln)	SPTAN1 (E2111Q +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely benign
Select item 988009	NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro)	SPTAN1 (L327P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely benign
Select item 986935	NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)	SPTAN1 (E2246K +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GPathogenic/Likely pathogenic
Select item 983118	NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter)	SPTAN1 (R733* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 982637	NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)	SPTAN1 (L102R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 976415	NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe)	SPTAN1 (L939F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 976410	NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter)	SPTAN1 (Q1621* +4 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 976180	NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln)	SPTAN1 (R25Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 976143	NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln)	SPTAN1 (R2179Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 976120	NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys)	SPTAN1 (E2387K +8 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 976098	NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn)	SPTAN1 (K1465N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 976054	NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs)	SPTAN1 (K871fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 953167	NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys)	SPTAN1 (E873K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 947247	NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg)	SPTAN1 (W872R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 942572	NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys)	SPTAN1 (S2417K +8 more)	Indel (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 936279	NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr)	SPTAN1 (I1903T +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 931620	NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys)	SPTAN1 (E2460K +8 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 930568	NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu)	SPTAN1 (Q486E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 930479	NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val)	SPTAN1 (M1078V +1 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 930357	NM_001130438.3(SPTAN1):c.364-3C>G	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 929476	NM_001130438.3:c.(?_1225)_(1572_?)del	SPTAN1	Deletion	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 859299	NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val)	SPTAN1 (A2148V +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 854884	NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)	SPTAN1 (R1065H +1 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 844981	NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)	SPTAN1 (K2058del +4 more)	Microsatellite (inframe_deletion)	Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 842827	NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp)	SPTAN1 (R1736W +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 842016	NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)	SPTAN1 (I958M +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 837431	NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg)	SPTAN1 (K1750R +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 833965	NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr)	SPTAN1 (A2233T +5 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 802518	NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)	SPTAN1 (H1806Q +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 800727	NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu)	SPTAN1 (H1467L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 698953	NM_001130438.3(SPTAN1):c.5340C>T (p.Asp1780=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign
Select item 681787	NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr)	SPTAN1 (C1314Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GConflicting classifications of pathogenicity
Select item 680381	NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)	SPTAN1 (M2380T +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GConflicting classifications of pathogenicity
Select item 666262	NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)	SPTAN1	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 5 +1 more	GLikely pathogenic
Select item 658253	NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)	SPTAN1 (A2485T +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GBenign/Likely benign
Select item 640768	NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)	SPTAN1 (G1936R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 638337	NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp)	SPTAN1 (E457D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 638004	NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)	SPTAN1 (L1659P +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 632592	NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr)	SPTAN1 (H1605Y +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 626172	NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met)	SPTAN1 (V763M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GConflicting classifications of pathogenicity
Select item 625454	NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)	SPTAN1 (G106R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 624370	NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)	SPTAN1 (T2439I +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 624369	NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr)	SPTAN1 (I639T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 598610	NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys)	SPTAN1 (R652C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 590182	NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related disorder +4 more	GBenign/Likely benign
Select item 590150	NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly)	SPTAN1 (A1975G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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