Related gene-specific medical variations for Gene (Select 6710) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233797	NM_001355436.2(SPTB):c.6716G>A (p.Arg2239Lys)	PLEKHG3, SPTB (R2239K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 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 3059908	NM_001355436.2(SPTB):c.6831G>A (p.Leu2277=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	SPTB-related disorder	GLikely benign
Select item 3026899	NM_001355436.2(SPTB):c.3765-1G>A	MIR7855, SPTB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2921196	NM_001355436.2(SPTB):c.6724_6726dup (p.Ile2242_Cys2243insIle)	PLEKHG3, SPTB	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2690756	NM_001355436.2(SPTB):c.1456C>T (p.Gln486Ter)	SPTB (Q486*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690755	NM_001355436.2(SPTB):c.3040del (p.Leu1014fs)	SPTB (L1014fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690754	NM_001355436.2(SPTB):c.3856-1G>A	SPTB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2690753	NM_001355436.2(SPTB):c.5886C>A (p.Cys1962Ter)	SPTB (C1962*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690752	NM_001355436.2(SPTB):c.250del (p.Asp84fs)	SPTB (D84fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690751	NM_001355436.2(SPTB):c.2598_2599del (p.Lys867fs)	SPTB (K867fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2690750	NM_001355436.2(SPTB):c.921C>G (p.Tyr307Ter)	SPTB (Y307*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690749	NM_001355436.2(SPTB):c.10del (p.Ala4fs)	SPTB (A4fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690748	NM_001355436.2(SPTB):c.5975_5976del (p.Lys1992fs)	SPTB (K1992fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690747	NM_001355436.2(SPTB):c.2351del (p.Lys784fs)	SPTB (K784fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690746	NM_001355436.2(SPTB):c.2842del (p.Glu948fs)	SPTB (E948fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690745	NM_001355436.2(SPTB):c.1603C>T (p.Gln535Ter)	SPTB (Q535*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690744	NM_001355436.2(SPTB):c.2561del (p.Phe854fs)	SPTB (F854fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690743	NM_001355436.2(SPTB):c.1101del (p.Phe367fs)	SPTB (F367fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690742	NM_001355436.2(SPTB):c.68G>A (p.Trp23Ter)	SPTB (W23*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690741	NM_001355436.2(SPTB):c.3304C>T (p.Gln1102Ter)	SPTB (Q1102*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690740	NM_001355436.2(SPTB):c.4101del (p.Thr1368fs)	SPTB (T1368fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690739	NM_001355436.2(SPTB):c.5178del (p.Leu1727fs)	SPTB (L1727fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690738	NM_001355436.2(SPTB):c.4310del (p.Glu1437fs)	SPTB (E1437fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690737	NM_001355436.2(SPTB):c.5731dup (p.Met1911fs)	SPTB (M1911fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2690736	NM_001355436.2(SPTB):c.3493_3496del (p.Ala1165fs)	SPTB (A1165fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690735	NM_001355436.2(SPTB):c.6188_6189del (p.Glu2063fs)	SPTB (E2063fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2690734	NM_001355436.2(SPTB):c.2524C>T (p.Gln842Ter)	SPTB (Q842*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690733	NM_001355436.2(SPTB):c.5686_5692dup (p.Gln1898fs)	SPTB (Q1898fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2690732	NM_001355436.2(SPTB):c.3130C>T (p.Gln1044Ter)	SPTB (Q1044*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690731	NM_001355436.2(SPTB):c.4127C>A (p.Ser1376Ter)	SPTB (S1376*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690730	NM_001355436.2(SPTB):c.1894C>T (p.Gln632Ter)	SPTB (Q632*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690729	NM_001355436.2(SPTB):c.2818C>T (p.Gln940Ter)	SPTB (Q940*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690728	NM_001355436.2(SPTB):c.2170C>T (p.Gln724Ter)	SPTB (Q724*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690499	NM_001355436.2(SPTB):c.5801dup (p.Asp1934fs)	SPTB (D1934fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2690498	NM_001355436.2(SPTB):c.4267-1G>A	SPTB	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2690497	NM_001355436.2(SPTB):c.4505dup (p.Ser1503fs)	SPTB (S1503fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2690148	NM_001355436.2(SPTB):c.5209C>T (p.Arg1737Trp)	SPTB (R1737W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690147	NM_001355436.2(SPTB):c.6010C>G (p.Arg2004Gly)	SPTB (R2004G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690146	NM_001355436.2(SPTB):c.2638_2640dup (p.Leu880_Glu881insLeu)	SPTB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2690145	NM_001355436.2(SPTB):c.4247G>A (p.Arg1416Gln)	SPTB (R1416Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690144	NM_001355436.2(SPTB):c.544T>G (p.Trp182Gly)	SPTB (W182G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690143	NM_001355436.2(SPTB):c.3338A>G (p.His1113Arg)	SPTB (H1113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690142	NM_001355436.2(SPTB):c.546G>T (p.Trp182Cys)	SPTB (W182C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690141	NM_001355436.2(SPTB):c.1043G>A (p.Arg348His)	SPTB (R348H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690140	NM_001355436.2(SPTB):c.913G>A (p.Glu305Lys)	SPTB (E305K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690139	NM_001355436.2(SPTB):c.1465G>A (p.Glu489Lys)	SPTB (E489K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690138	NM_001355436.2(SPTB):c.6627G>C (p.Val2209=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2690137	NM_001355436.2(SPTB):c.1109A>G (p.Gln370Arg)	SPTB (Q370R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690136	NM_001355436.2(SPTB):c.5032G>A (p.Val1678Met)	SPTB (V1678M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690135	NM_001355436.2(SPTB):c.5528G>A (p.Arg1843Gln)	SPTB (R1843Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690134	NM_001355436.2(SPTB):c.167A>G (p.Gln56Arg)	SPTB (Q56R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690133	NM_001355436.2(SPTB):c.4897G>A (p.Val1633Met)	SPTB (V1633M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690132	NM_001355436.2(SPTB):c.413T>G (p.Ile138Ser)	SPTB (I138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690131	NM_001355436.2(SPTB):c.3405G>C (p.Glu1135Asp)	SPTB (E1135D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690130	NM_001355436.2(SPTB):c.1333G>A (p.Val445Met)	SPTB (V445M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690128	NM_001355436.2(SPTB):c.4597C>T (p.Arg1533Trp)	SPTB (R1533W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690127	NM_001355436.2(SPTB):c.4973+5G>C	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2690125	NM_001355436.2(SPTB):c.4973G>A (p.Gly1658Glu)	SPTB (G1658E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690124	NM_001355436.2(SPTB):c.259A>G (p.Met87Val)	SPTB (M87V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690123	NM_001355436.2(SPTB):c.944_958del (p.Leu315_Glu319del)	SPTB	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2690122	NM_001355436.2(SPTB):c.2323G>A (p.Glu775Lys)	SPTB (E775K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690121	NM_001355436.2(SPTB):c.4912C>T (p.Arg1638Trp)	SPTB (R1638W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690120	NM_001355436.2(SPTB):c.4751A>G (p.Asn1584Ser)	SPTB (N1584S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690119	NM_001355436.2(SPTB):c.44C>G (p.Pro15Arg)	SPTB (P15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690118	NM_001355436.2(SPTB):c.4936C>T (p.Arg1646Trp)	SPTB (R1646W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690117	NM_001355436.2(SPTB):c.764-3C>G	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2690116	NM_001355436.2(SPTB):c.518G>A (p.Arg173His)	SPTB (R173H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690115	NM_001355436.2(SPTB):c.4266+5G>T	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2690114	NM_001355436.2(SPTB):c.6056C>T (p.Ser2019Phe)	SPTB (S2019F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690113	NM_001355436.2(SPTB):c.1064+3A>T	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2690112	NM_001355436.2(SPTB):c.6269+6T>A	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2524717	NM_001355436.2(SPTB):c.6734T>C (p.Ile2245Thr)	PLEKHG3, SPTB (I2245T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508931	NM_001355436.2(SPTB):c.6866A>C (p.Glu2289Ala)	PLEKHG3, SPTB (E2289A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507704	NM_001355436.2(SPTB):c.6757A>C (p.Lys2253Gln)	PLEKHG3, SPTB (K2253Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505369	NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)	SPTB (S722fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 2438395	NM_001355436.2(SPTB):c.1064+1G>A	SPTB	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2436455	NM_001355436.2(SPTB):c.1042C>T (p.Arg348Cys)	SPTB (R348C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436454	NM_001355436.2(SPTB):c.1246C>T (p.Arg416Trp)	SPTB (R416W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436453	NM_001355436.2(SPTB):c.4736G>A (p.Arg1579Gln)	SPTB (R1579Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436452	NM_001355436.2(SPTB):c.6509C>T (p.Pro2170Leu)	SPTB (P2170L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436451	NM_001355436.2(SPTB):c.1058C>T (p.Pro353Leu)	SPTB (P353L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436450	NM_001355436.2(SPTB):c.515C>T (p.Thr172Ile)	SPTB (T172I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436449	NM_001355436.2(SPTB):c.4376G>A (p.Arg1459Gln)	SPTB (R1459Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436448	NM_001355436.2(SPTB):c.6503C>T (p.Thr2168Met)	SPTB (T2168M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436447	NM_001355436.2(SPTB):c.559A>C (p.Thr187Pro)	SPTB (T187P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436446	NM_001355436.2(SPTB):c.2030G>A (p.Arg677His)	SPTB (R677H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436445	NM_001355436.2(SPTB):c.6473C>A (p.Thr2158Lys)	SPTB (T2158K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436443	NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del)	PLEKHG3, SPTB (K2253del)	Microsatellite (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2436442	NM_001355436.2(SPTB):c.4892G>T (p.Arg1631Leu)	SPTB (R1631L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436441	NM_001355436.2(SPTB):c.6269+6T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436440	NM_001355436.2(SPTB):c.2974G>A (p.Ala992Thr)	SPTB (A992T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436439	NM_001355436.2(SPTB):c.3764G>T (p.Arg1255Met)	SPTB (R1255M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436438	NM_001355436.2(SPTB):c.1327C>T (p.Arg443Cys)	SPTB (R443C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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