ClinVar for MedGen (Select 436112) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2444088	NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)	SPTB (E489*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	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 +1 more	GUncertain significance
Select item 2372852	NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His)	SPTB (R1002H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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)	Hereditary spherocytosis type 2	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)	not provided +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)	not provided +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)	Hereditary spherocytosis type 2 +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	GPathogenic
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)	not provided +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)	not provided +2 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)	Hereditary spherocytosis type 2	GBenign
Select item 1333114	NM_001355436.2(SPTB):c.648-49G>A	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2	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)	not provided +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
Select item 1163562	NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys)	SPTB (R74C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163553	NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter)	SPTB (R638*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1163366	NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)	SPTB (A2023V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1028698	NM_001355436.2(SPTB):c.774G>A (p.Thr258=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1028696	NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)	SPTB (K1369E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 994361	NM_001355436.2(SPTB):c.4474-17C>T	SPTB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 992931	NM_001355436.2(SPTB):c.2647del (p.Leu883fs)	SPTB (L883fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 992930	NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter)	SPTB (Q760*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 992929	NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)	SPTB (Q342*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 992928	NM_001355436.2(SPTB):c.4842+1G>C	SPTB	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 992927	NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter)	SPTB (W1312*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 992926	NM_001355436.2(SPTB):c.3106dup (p.Gln1036fs)	SPTB (Q1036fs)	Duplication (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 982665	NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr)	SPTB (I138T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 870421	NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile)	SPTB (T2040I)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 812019	NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter)	SPTB (R1423*)	Single nucleotide variant (nonsense)	not specified +2 more	GPathogenic
Select item 811593	NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)	SPTB (R840H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 807129	NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)	SPTB (P1227S)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 807128	NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del)	SPTB (E2119del)	Microsatellite (inframe_deletion)	Elliptocytosis 3 +2 more	GUncertain significance
Select item 800358	NM_001355436.2(SPTB):c.3784_3787del (p.Lys1262fs)	SPTB (K1262fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 544817	NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter)	SPTB (Q1875*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 544816	NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)	SPTB (R1306*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 544813	NM_001355436.2(SPTB):c.4973+5G>A	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 544812	NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)	SPTB (R955*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 544811	NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)	SPTB (R216Q)	Single nucleotide variant (missense variant)	SPTB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 544810	NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs)	SPTB (L444fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 520434	Single allele		Deletion	Hereditary spherocytosis type 2	GPathogenic
Select item 313773	NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile)	SPTB (T316I)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +3 more	GUncertain significance
Select item 313723	NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)	SPTB (P1613S)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 257138	NM_001355436.2(SPTB):c.876+5A>G	SPTB	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 257128	NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 257123	NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 257120	NM_001355436.2(SPTB):c.4563+12G>C	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign

<< First< Prev

Page of 2