"Illumina Laboratory Services, Illumina"[submitter] AND "SPTB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313694	NM_001355436.2(SPTB):c.6345+321A>G	SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	Spherocytosis, Dominant +1 more	GLikely benign
Select item 313695	NM_001355436.2(SPTB):c.6345+317G>A	SPTB	Single nucleotide variant (intron variant +1 more)	Spherocytosis, Dominant +1 more	GUncertain significance
Select item 313696	NM_001355436.2(SPTB):c.6345+251G>A	SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	Elliptocytosis +1 more	GUncertain significance
Select item 313697	NM_001355436.2(SPTB):c.6345+203C>T	SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	Elliptocytosis +1 more	GUncertain significance
Select item 313698	NM_001355436.2(SPTB):c.6345+162G>C	SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	Spherocytosis, Dominant +1 more	GLikely benign
Select item 313699	NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +2 more	GConflicting classifications of pathogenicity
Select item 313700	NM_001355436.2(SPTB):c.6270-8_6270-6dup	SPTB	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257134	NM_001355436.2(SPTB):c.6269+13C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313701	NM_001355436.2(SPTB):c.6269+7G>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313702	NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His)	SPTB (R2079H)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 313703	NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257132	NM_001355436.2(SPTB):c.6023-8C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 257131	NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +3 more	GConflicting classifications of pathogenicity
Select item 313704	NM_001355436.2(SPTB):c.5928C>G (p.Ala1976=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313705	NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)	SPTB (R1972Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 313706	NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys)	SPTB (S1937C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 257130	NM_001355436.2(SPTB):c.5799-7C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313707	NM_001355436.2(SPTB):c.5775G>T (p.Gln1925His)	SPTB (Q1925H)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313708	NM_001355436.2(SPTB):c.5554-3C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +2 more	GBenign/Likely benign
Select item 257129	NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313709	NM_001355436.2(SPTB):c.5530G>C (p.Glu1844Gln)	SPTB (E1844Q)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313710	NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn)	SPTB (D1823N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 313711	NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related condition +3 more	GConflicting classifications of pathogenicity
Select item 313712	NM_001355436.2(SPTB):c.5456A>T (p.Glu1819Val)	SPTB (E1819V)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 313713	NM_001355436.2(SPTB):c.5439C>T (p.Ile1813=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313714	NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=)	SPTB	Single nucleotide variant (synonymous variant)	Spherocytosis, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 313715	NM_001355436.2(SPTB):c.5294C>T (p.Ala1765Val)	SPTB (A1765V)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313716	NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +2 more	GConflicting classifications of pathogenicity
Select item 313717	NM_001355436.2(SPTB):c.5255C>G (p.Ala1752Gly)	SPTB (A1752G)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313718	NM_001355436.2(SPTB):c.5181T>C (p.Leu1727=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313719	NM_001355436.2(SPTB):c.5112G>T (p.Gln1704His)	SPTB (Q1704H)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313720	NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +2 more	GConflicting classifications of pathogenicity
Select item 313721	NM_001355436.2(SPTB):c.4973+12C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313722	NM_001355436.2(SPTB):c.4973+4C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +2 more	GConflicting classifications of pathogenicity
Select item 257128	NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +4 more	GBenign/Likely benign
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 257127	NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313724	NM_001355436.2(SPTB):c.4782C>T (p.Asp1594=)	SPTB	Single nucleotide variant (synonymous variant)	Spherocytosis, Dominant +1 more	GUncertain significance
Select item 257126	NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 257125	NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313725	NM_001355436.2(SPTB):c.4651G>T (p.Asp1551Tyr)	SPTB (D1551Y)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257123	NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 313726	NM_001355436.2(SPTB):c.4606G>C (p.Asp1536His)	SPTB (D1536H)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257121	NM_001355436.2(SPTB):c.4564-4G>A	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313727	NM_001355436.2(SPTB):c.4564-7G>A	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257120	NM_001355436.2(SPTB):c.4563+12G>C	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 313728	NM_001355436.2(SPTB):c.4563+11C>T	SPTB	Single nucleotide variant (intron variant)	Spherocytosis, Dominant +1 more	GUncertain significance
Select item 313729	NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)	SPTB (A1504V)	Single nucleotide variant (missense variant)	SPTB-related condition +4 more	GConflicting classifications of pathogenicity
Select item 257119	NM_001355436.2(SPTB):c.4482G>A (p.Val1494=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 257118	NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 313730	NM_001355436.2(SPTB):c.4349G>T (p.Gly1450Val)	SPTB (G1450V)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257117	NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 257116	NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 257115	NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg)	SPTB (G1408R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 257114	NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln)	SPTB (R1403Q)	Single nucleotide variant (missense variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313731	NM_001355436.2(SPTB):c.4176C>T (p.Asn1392=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257112	NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg)	SPTB (H1374R)	Single nucleotide variant (missense variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313732	NM_001355436.2(SPTB):c.4076G>A (p.Arg1359Gln)	SPTB (R1359Q)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 313733	NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)	SPTB (R1359W)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 257110	NM_001355436.2(SPTB):c.4003-12T>C	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313734	NM_001355436.2(SPTB):c.3855+7C>A	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313735	NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=)	SPTB	Single nucleotide variant (synonymous variant)	Spherocytosis, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 313736	NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +2 more	GConflicting classifications of pathogenicity
Select item 313737	NM_001355436.2(SPTB):c.3536A>G (p.Gln1179Arg)	SPTB (Q1179R)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 313738	NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His)	SPTB (R1160H)	Single nucleotide variant (missense variant)	SPTB-related condition +3 more	GConflicting classifications of pathogenicity
Select item 257108	NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp)	SPTB (N1151D)	Single nucleotide variant (missense variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 313739	NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln)	SPTB (R1142Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313740	NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly)	SPTB (A1104G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 313741	NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp)	SPTB (R1035W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313742	NM_001355436.2(SPTB):c.3091G>T (p.Asp1031Tyr)	SPTB (D1031Y)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257107	NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 313743	NM_001355436.2(SPTB):c.2979C>G (p.Ile993Met)	SPTB (I993M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 313744	NM_001355436.2(SPTB):c.2934G>A (p.Glu978=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 313745	NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu)	SPTB (V886L)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 257103	NM_001355436.2(SPTB):c.2562C>T (p.Phe854=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313746	NM_001355436.2(SPTB):c.2441G>A (p.Arg814Gln)	SPTB (R814Q)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 313747	NM_001355436.2(SPTB):c.2419C>G (p.Gln807Glu)	SPTB (Q807E)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313748	NM_001355436.2(SPTB):c.2303G>A (p.Gly768Asp)	SPTB (G768D)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 313749	NM_001355436.2(SPTB):c.2250C>T (p.Gly750=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313750	NM_001355436.2(SPTB):c.2188G>A (p.Asp730Asn)	SPTB (D730N)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257102	NM_001355436.2(SPTB):c.2154A>C (p.Ile718=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 313751	NM_001355436.2(SPTB):c.2149C>T (p.Arg717Cys)	SPTB (R717C)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 313752	NM_001355436.2(SPTB):c.2116C>T (p.Arg706Cys)	SPTB (R706C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 313753	NM_001355436.2(SPTB):c.2108T>C (p.Met703Thr)	SPTB (M703T)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257101	NM_001355436.2(SPTB):c.2060G>A (p.Arg687His)	SPTB (R687H)	Single nucleotide variant (missense variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313754	NM_001355436.2(SPTB):c.2005C>T (p.Leu669=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313755	NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313756	NM_001355436.2(SPTB):c.1866G>A (p.Leu622=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +1 more	GUncertain significance
Select item 257100	NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile)	SPTB (S613I)	Single nucleotide variant (missense variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 313757	NM_001355436.2(SPTB):c.1796G>A (p.Gly599Glu)	SPTB (G599E)	Single nucleotide variant (missense variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313758	NM_001355436.2(SPTB):c.1795+9A>C	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +1 more	GUncertain significance
Select item 313759	NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr)	SPTB (A589T)	Single nucleotide variant (missense variant)	Elliptocytosis +2 more	GBenign/Likely benign
Select item 313760	NM_001355436.2(SPTB):c.1707G>A (p.Lys569=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 313761	NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)	SPTB (D536N)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +3 more	GConflicting classifications of pathogenicity
Select item 313762	NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile)	SPTB (T526I)	Single nucleotide variant (missense variant)	SPTB-related condition +3 more	GConflicting classifications of pathogenicity
Select item 313763	NM_001355436.2(SPTB):c.1561C>T (p.Arg521Cys)	SPTB (R521C)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 313764	NM_001355436.2(SPTB):c.1512C>T (p.Asp504=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313765	NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys)	SPTB (R502C)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +3 more	GUncertain significance
Select item 313766	NM_001355436.2(SPTB):c.1493G>A (p.Arg498His)	SPTB (R498H)	Single nucleotide variant (missense variant)	SPTB-related condition +4 more	GUncertain significance
Select item 313767	NM_001355436.2(SPTB):c.1431G>A (p.Arg477=)	SPTB	Single nucleotide variant (synonymous variant)	Spherocytosis, Dominant +2 more	GConflicting classifications of pathogenicity

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