"GeneDx"[submitter] AND "SPTB"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 618394	NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His)	SPTB (R1981H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 313705	NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)	SPTB (R1972Q)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +3 more	GConflicting classifications of pathogenicity
Select item 1376933	NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2663722	NM_001355436.2(SPTB):c.5705C>T (p.Thr1902Met)	SPTB (T1902M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279902	NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)	SPTB (A1884V)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 1312819	NM_001355436.2(SPTB):c.5422G>A (p.Glu1808Lys)	SPTB (E1808K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1706264	NM_001355436.2(SPTB):c.5218G>A (p.Gly1740Arg)	SPTB (G1740R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 993679	NM_001355436.2(SPTB):c.5185C>G (p.Arg1729Gly)	SPTB (R1729G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597286	NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)	SPTB (R1684C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1308597	NM_001355436.2(SPTB):c.4921A>G (p.Lys1641Glu)	SPTB (K1641E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303278	NM_001355436.2(SPTB):c.4892G>A (p.Arg1631His)	SPTB (R1631H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257128	NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)	SPTB	Single nucleotide variant (synonymous variant)	not specified +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 257121	NM_001355436.2(SPTB):c.4564-4G>A	SPTB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1224940	NM_001355436.2(SPTB):c.4564-158C>G	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 257119	NM_001355436.2(SPTB):c.4482G>A (p.Val1494=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 257118	NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
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 1281351	NM_001355436.2(SPTB):c.4474-47T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292026	NM_001355436.2(SPTB):c.4474-76C>T	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252320	NM_001355436.2(SPTB):c.4474-178A>G	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276715	NM_001355436.2(SPTB):c.4474-217A>G	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274208	NM_001355436.2(SPTB):c.4473+216G>T	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180359	NM_001355436.2(SPTB):c.4473+133T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267751	NM_001355436.2(SPTB):c.4473+131C>G	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282364	NM_001355436.2(SPTB):c.4473+93T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257117	NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 1249521	NM_001355436.2(SPTB):c.4266+296A>G	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
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)	not provided +3 more	GBenign/Likely benign
Select item 313733	NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)	SPTB (R1359W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1182873	NM_001355436.2(SPTB):c.4003-265del	SPTB	Deletion (intron variant)	not provided	GLikely benign
Select item 1267244	NM_001355436.2(SPTB):c.4003-328C>T	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264831	NM_001355436.2(SPTB):c.4002+209T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249872	NM_001355436.2(SPTB):c.4002+137G>A	SPTB	Single nucleotide variant (intron variant)	not provided	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 618392	NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val)	SPTB (A1334V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1237481	NM_001355436.2(SPTB):c.3855+185del	SPTB	Deletion (intron variant)	not provided	GBenign
Select item 257108	NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp)	SPTB (N1151D)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 1305314	NM_001355436.2(SPTB):c.3203A>G (p.Gln1068Arg)	SPTB (Q1068R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597284	NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)	SPTB (V961I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1280866	NM_001355436.2(SPTB):c.2805-129del	SPTB	Deletion (intron variant)	not provided	GBenign
Select item 1285718	NM_001355436.2(SPTB):c.2804+152_2804+153del	SPTB	Deletion (intron variant)	not provided	GBenign
Select item 1309338	NM_001355436.2(SPTB):c.2804G>A (p.Arg935Lys)	SPTB (R935K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340784	NM_001355436.2(SPTB):c.2470C>T (p.Gln824Ter)	SPTB (Q824*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2663196	NM_001355436.2(SPTB):c.2280A>T (p.Gln760His)	SPTB (Q760H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374492	NM_001355436.2(SPTB):c.2197G>C (p.Ala733Pro)	SPTB (A733P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257102	NM_001355436.2(SPTB):c.2154A>C (p.Ile718=)	SPTB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1163555	NM_001355436.2(SPTB):c.1342-10G>A	SPTB	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1231195	NM_001355436.2(SPTB):c.1342-68G>T	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229697	NM_001355436.2(SPTB):c.1341+272C>G	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257098	NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn)	SPTB (S439N)	Single nucleotide variant (missense variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 257097	NM_001355436.2(SPTB):c.1269G>A (p.Leu423=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +4 more	GBenign/Likely benign
Select item 1257870	NM_001355436.2(SPTB):c.1183-160dup	SPTB	Duplication (intron variant)	not provided	GBenign
Select item 257138	NM_001355436.2(SPTB):c.876+5A>G	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +4 more	GBenign/Likely benign
Select item 994306	NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser)	SPTB (G291S)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +1 more	GUncertain significance
Select item 1182701	NM_001355436.2(SPTB):c.764-24dup	SPTB	Duplication (intron variant)	not provided	GBenign
Select item 1234432	NM_001355436.2(SPTB):c.567-166T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222478	NM_001355436.2(SPTB):c.475-276T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247464	NM_001355436.2(SPTB):c.474+301T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260602	NM_001355436.2(SPTB):c.474+110del	SPTB	Deletion (intron variant)	not provided	GBenign
Select item 1246450	NM_001355436.2(SPTB):c.300+255G>A	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257106	NM_001355436.2(SPTB):c.300+7T>C	SPTB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 257099	NM_001355436.2(SPTB):c.177C>T (p.Thr59=)	SPTB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 618395	NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln)	SPTB (R52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 313785	NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)	SPTB (N9T)	Single nucleotide variant (missense variant)	Elliptocytosis +3 more	GConflicting classifications of pathogenicity
Select item 1281518	NM_001355436.2(SPTB):c.-51-103T>C	SPTB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1282772	NM_001355436.2(SPTB):c.-51-115T>C	SPTB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3361854	NM_001355436.2(SPTB):c.4996G>T (p.Gly1666Trp)	SPTB (G1666W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 70