ClinVar for MedGen (Select 436112) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3900649	NM_001355436.2(SPTB):c.5312G>A (p.Trp1771Ter)	SPTB (W1771*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3895494	NM_001355436.2(SPTB):c.1644+5G>A	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3892553	NM_001355436.2(SPTB):c.508C>T (p.Arg170Cys)	SPTB (R170C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3892552	NM_001355436.2(SPTB):c.4072C>T (p.His1358Tyr)	SPTB (H1358Y)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3892551	NM_001355436.2(SPTB):c.3155G>A (p.Gly1052Asp)	SPTB (G1052D)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3892550	NM_001355436.2(SPTB):c.257G>A (p.Arg86His)	SPTB (R86H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3777122	NM_001355436.2(SPTB):c.4932dup (p.Ser1645fs)	SPTB (S1645fs)	Duplication (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3775962	NM_001355436.2(SPTB):c.5165_5166del (p.Asp1721_Phe1722insTer)	SPTB	Deletion (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 3775895	NM_001355436.2(SPTB):c.376C>T (p.Gln126Ter)	SPTB (Q126*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3773732	NM_001355436.2(SPTB):c.5113_5553+672del	SPTB	Deletion (splice acceptor variant +1 more)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3731461	NM_001355436.2(SPTB):c.884_925del (p.Asp295_Ser308del)	SPTB	Deletion (inframe_deletion)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3576659	NM_001355436.2(SPTB):c.3262del (p.Asp1088fs)	SPTB (D1088fs)	Deletion (frameshift variant)	Elliptocytosis 3 +1 more	GLikely pathogenic
Select item 3576658	NM_001355436.2(SPTB):c.4589A>G (p.His1530Arg)	SPTB (H1530R)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +1 more	GUncertain significance
Select item 3390949	NM_017534.6(MYH2):c.680A>G (p.Asn227Ser)	LOC126862501, MYH2 +1 more (N227S)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3383119	NM_001355436.2(SPTB):c.3055C>T (p.Gln1019Ter)	SPTB (Q1019*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 3383058	NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)	SPTB (Q1118*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GLikely pathogenic
Select item 3382356	NM_001355436.2(SPTB):c.1311del (p.Trp437fs)	SPTB (W437fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 3382350	NM_001355436.2(SPTB):c.3114delinsAAACAT (p.His1038fs)	SPTB (H1038fs)	Indel (frameshift variant)	Hereditary spherocytosis type 2 +1 more	GLikely pathogenic
Select item 3382032	NM_001355436.2(SPTB):c.2617G>T (p.Glu873Ter)	SPTB (E873*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3362415	NM_001355436.2(SPTB):c.4473+1G>A	SPTB	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3362379	NM_001355436.2(SPTB):c.5408del (p.Phe1803fs)	SPTB (F1803fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3251931	NM_001355436.2(SPTB):c.1759del (p.Ile587fs)	SPTB (I587fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3251247	NM_001355436.2(SPTB):c.1618dup (p.Ser540fs)	SPTB (S540fs)	Duplication (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3241988	NM_001355436.2(SPTB):c.4804G>A (p.Glu1602Lys)	SPTB (E1602K)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3241958	NM_001355436.2(SPTB):c.3829C>T (p.Gln1277Ter)	SPTB (Q1277*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3235002	NM_001355436.2(SPTB):c.865C>T (p.Arg289Cys)	SPTB (R289C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3234958	NM_001355436.2(SPTB):c.3854A>C (p.Glu1285Ala)	SPTB (E1285A)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3169525	NM_001355436.2(SPTB):c.6925G>A (p.Asp2309Asn)	PLEKHG3, SPTB (D2309N)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3169508	NM_001355436.2(SPTB):c.3623G>A (p.Arg1208Gln)	SPTB (R1208Q)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +2 more	GUncertain significance
Select item 3068238	NM_001355436.2(SPTB):c.326G>A (p.Arg109His)	SPTB (R109H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3067955	NM_001355436.2(SPTB):c.4618A>G (p.Arg1540Gly)	SPTB (R1540G)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3065958	NM_001355436.2(SPTB):c.1663G>A (p.Glu555Lys)	SPTB (E555K)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3065683	NM_001355436.2(SPTB):c.2915A>G (p.Asp972Gly)	SPTB (D972G)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3062285	NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)	SPTB (W182*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2687746	NM_001355436.2(SPTB):c.5506_5507insCGTCCAGCCCTTCCACC (p.Arg1836fs)	SPTB (R1836fs)	Insertion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 2671714	NM_001355436.2(SPTB):c.2711T>C (p.Ile904Thr)	SPTB (I904T)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 2671691	NM_001355436.2(SPTB):c.2401C>T (p.His801Tyr)	SPTB (H801Y)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 2627545	NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)	SPTB (K641*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2627525	NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)	SPTB (Q1036fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2627394	NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)	SPTB (G1601fs)	Duplication (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2627069	NM_001355436.2(SPTB):c.4843-1G>C	SPTB	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2585286	NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)	SPTB (Q713*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 2584928	NM_001355436.2(SPTB):c.647+1G>A	SPTB	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2572616	NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)	SPTB (Q1985*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2507948	NM_001355436.2(SPTB):c.5899G>A (p.Glu1967Lys)	SPTB (E1967K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2466517	NM_001355436.2(SPTB):c.2593G>A (p.Gly865Arg)	SPTB (G865R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444088	NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)	SPTB (E489*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 2412736	NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)	SPTB (K1393fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2395920	NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)	SPTB (K503N)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +2 more	GUncertain significance
Select item 2372852	NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His)	SPTB (R1002H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 2007754	NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)	SPTB (W63*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 1996965	NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter)	SPTB (E1030*)	Single nucleotide variant (nonsense)	Elliptocytosis 3 +2 more	GPathogenic/Likely pathogenic
Select item 1710176	NM_001355436.2(SPTB):c.754G>A (p.Asp252Asn)	SPTB (D252N)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 1710055	NM_001355436.2(SPTB):c.5178+1G>A	SPTB	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1708136	NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)	SPTB (W1705*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1705677	NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)	SPTB (Q1028*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1705517	NM_001355436.2(SPTB):c.474+1G>A	SPTB	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 2 +1 more	GLikely pathogenic
Select item 1705421	NM_001355436.2(SPTB):c.1908del (p.Lys637fs)	SPTB (K637fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1703701	NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs)	SPTB (S917fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1702974	NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg)	SPTB (G1894R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 1691226	NM_001355436.2(SPTB):c.5059dup (p.Glu1687fs)	SPTB (E1687fs)	Duplication (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1683563	NM_001355436.2(SPTB):c.3764+8C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis 3 +1 more	GUncertain significance
Select item 1679426	NM_001355436.2(SPTB):c.3764+9G>A	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +2 more	GBenign/Likely benign
Select item 1676998	NM_001355436.2(SPTB):c.4368del (p.Ile1456fs)	SPTB (I1456fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676997	NM_001355436.2(SPTB):c.5788G>T (p.Glu1930Ter)	SPTB (E1930*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676996	NM_001355436.2(SPTB):c.151G>T (p.Glu51Ter)	SPTB (E51*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676994	NM_001355436.2(SPTB):c.3855+1G>A	SPTB	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676993	NM_001355436.2(SPTB):c.2521C>T (p.Gln841Ter)	SPTB (Q841*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676992	NM_001355436.2(SPTB):c.1591C>T (p.Gln531Ter)	SPTB (Q531*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676991	NM_001355436.2(SPTB):c.4942C>T (p.Gln1648Ter)	SPTB (Q1648*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676990	NM_001355436.2(SPTB):c.4969G>T (p.Glu1657Ter)	SPTB (E1657*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676989	NM_001355436.2(SPTB):c.5099del (p.Asp1700fs)	SPTB (D1700fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676988	NM_001355436.2(SPTB):c.2165C>A (p.Ser722Ter)	SPTB (S722*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676987	NM_001355436.2(SPTB):c.3986_4001del (p.Leu1329fs)	SPTB (L1329fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676986	NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter)	SPTB (E29*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1676984	NM_001355436.2(SPTB):c.999_1000del (p.Leu334fs)	SPTB (L334fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676983	NM_001355436.2(SPTB):c.4417C>T (p.Gln1473Ter)	SPTB (Q1473*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1676982	NM_001355436.2(SPTB):c.5737dup (p.Arg1913fs)	SPTB (R1913fs)	Duplication (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676981	NM_001355436.2(SPTB):c.1630dup (p.Met544fs)	SPTB (M544fs)	Duplication (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676980	NM_001355436.2(SPTB):c.2659C>T (p.Gln887Ter)	SPTB (Q887*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676979	NM_001355436.2(SPTB):c.6536_6537del (p.Val2179fs)	SPTB (V2179fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676978	NM_001355436.2(SPTB):c.467G>C (p.Arg156Pro)	SPTB (R156P)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676977	NM_001355436.2(SPTB):c.3351C>A (p.Tyr1117Ter)	SPTB (Y1117*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676976	NM_001355436.2(SPTB):c.2092del (p.Gln698fs)	SPTB (Q698fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676975	NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter)	SPTB (Q158*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1676974	NM_001355436.2(SPTB):c.2423del (p.Gly808fs)	SPTB (G808fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676973	NM_001355436.2(SPTB):c.5464G>T (p.Glu1822Ter)	SPTB (E1822*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676972	NM_001355436.2(SPTB):c.6059_6060del (p.Val2020fs)	SPTB (V2020fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676971	NM_001355436.2(SPTB):c.493C>T (p.Gln165Ter)	SPTB (Q165*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676970	NM_001355436.2(SPTB):c.3841C>T (p.Gln1281Ter)	SPTB (Q1281*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 1676969	NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)	SPTB (A49V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1453666	NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter)	SPTB (R1625*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 1333304	NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter)	SPTB (K1816*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1333115	NM_001355436.2(SPTB):c.300+23C>T	SPTB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1333114	NM_001355436.2(SPTB):c.648-49G>A	SPTB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1332699	NM_001355436.2(SPTB):c.1182+2T>C	SPTB	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1288981	NM_001355436.2(SPTB):c.4474-42C>T	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +1 more	GBenign
Select item 1244503	NM_001355436.2(SPTB):c.4002+26T>C	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +1 more	GBenign
Select item 1199239	NM_001355436.2(SPTB):c.836A>C (p.Lys279Thr)	SPTB (K279T)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 1185067	NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter)	SPTB (K1293*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic

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