SPTB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 2436418	NM_001355436.2(SPTB):c.6937G>A (p.Gly2313Ser)	PLEKHG3, SPTB (G2313S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 257137	NM_001355436.2(SPTB):c.6891G>A (p.Ala2297=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2246463	NM_001355436.2(SPTB):c.6880C>G (p.Arg2294Gly)	PLEKHG3, SPTB (R2294G)	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 1163362	NM_001355436.2(SPTB):c.6865G>A (p.Glu2289Lys)	PLEKHG3, SPTB (E2289K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 994335	NM_001355436.2(SPTB):c.6846C>T (p.Gly2282=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 1163363	NM_001308147.2(PLEKHG3):c.*5777G>A	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2428689	NM_001308147.2(PLEKHG3):c.*5935G>C	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2436443	NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del)	PLEKHG3, SPTB (K2253del)	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
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 544815	NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val)	PLEKHG3, SPTB (A2246V)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial hemolytic anemia	GUncertain significance
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 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 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 544814	NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met)	PLEKHG3, SPTB (L2236M)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial hemolytic anemia	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 2473820	NM_001355436.2(SPTB):c.6565C>T (p.His2189Tyr)	SPTB (H2189Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271992	NM_001355436.2(SPTB):c.6559C>T (p.Arg2187Cys)	SPTB (R2187C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169523	NM_001355436.2(SPTB):c.6542T>G (p.Met2181Arg)	SPTB (M2181R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676979	NM_001355436.2(SPTB):c.6536_6537del (p.Val2179fs)	SPTB (V2179fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 2560857	NM_001355436.2(SPTB):c.6518G>C (p.Arg2173Pro)	SPTB (R2173P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2462760	NM_001355436.2(SPTB):c.6518G>A (p.Arg2173Gln)	SPTB (R2173Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322420	NM_001355436.2(SPTB):c.6514C>T (p.Pro2172Ser)	SPTB (P2172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436452	NM_001355436.2(SPTB):c.6509C>T (p.Pro2170Leu)	SPTB (P2170L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 995612	NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr)	SPTB (A2167T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3058596	NM_001355436.2(SPTB):c.6498C>T (p.Pro2166=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 1694100	NM_001355436.2(SPTB):c.6496C>G (p.Pro2166Ala)	SPTB (P2166A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 546743	NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys)	SPTB (E2162K)	Single nucleotide variant (missense variant)	SPTB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 994185	NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 257135	NM_001355436.2(SPTB):c.6483C>A (p.Ser2161Arg)	SPTB (S2161R)	Single nucleotide variant (missense variant)	not specified	GBenign
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 2374267	NM_001355436.2(SPTB):c.6450G>T (p.Glu2150Asp)	SPTB (E2150D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169522	NM_001355436.2(SPTB):c.6440C>T (p.Pro2147Leu)	SPTB (P2147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694101	NM_001355436.2(SPTB):c.6396_6398dup (p.Gly2133_Gln2134insGly)	SPTB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 995697	NM_001355436.2(SPTB):c.6399T>C (p.Gly2133=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2921121	NM_001355436.2(SPTB):c.6396G>C (p.Pro2132=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3322416	NM_001355436.2(SPTB):c.6395C>T (p.Pro2132Leu)	SPTB (P2132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037775	NM_001355436.2(SPTB):c.6393G>A (p.Pro2131=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 1163364	NM_001355436.2(SPTB):c.6392C>T (p.Pro2131Leu)	SPTB (P2131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3169521	NM_001355436.2(SPTB):c.6391C>G (p.Pro2131Ala)	SPTB (P2131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920990	NM_001355436.2(SPTB):c.6379C>A (p.Gln2127Lys)	SPTB (Q2127K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268489	NM_001355436.2(SPTB):c.6375C>A (p.Asn2125Lys)	SPTB (N2125K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628625	NM_001355436.2(SPTB):c.6369del (p.Gln2124fs)	SPTB (Q2124fs)	Deletion (frameshift variant)	SPTB-related disorder	GLikely pathogenic
Select item 807127	NM_001355436.2(SPTB):c.6369T>G (p.Pro2123=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330890	NM_001355436.2(SPTB):c.6361A>G (p.Thr2121Ala)	SPTB (T2121A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2921054	NM_001355436.2(SPTB):c.6346-4G>C	SPTB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1330802	NM_001355436.2(SPTB):c.6346-13dup	SPTB	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
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 1330975	NM_001355436.2(SPTB):c.6345+19T>A	SPTB (L2122M)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 811971	NM_001355436.2(SPTB):c.6313T>G (p.Ser2105Ala)	SPTB (S2105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 544818	NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr)	SPTB (P2091T)	Single nucleotide variant (missense variant)	Familial hemolytic anemia	GLikely benign
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)	not provided +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 2690112	NM_001355436.2(SPTB):c.6269+6T>A	SPTB	Single nucleotide variant (intron 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 12832	NM_001355436.2(SPTB):c.6269+3G>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis 3	GPathogenic
Select item 2744831	NM_001355436.2(SPTB):c.6242T>C (p.Ile2081Thr)	SPTB (I2081T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2512069	NM_001355436.2(SPTB):c.6235C>T (p.Arg2079Cys)	SPTB (R2079C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325130	NM_001355436.2(SPTB):c.6224A>G (p.Glu2075Gly)	SPTB (E2075G)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1687184	NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln)	SPTB (E2075Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1330669	NM_001355436.2(SPTB):c.6220-16C>A	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523132	NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs)	SPTB (A2066fs)	Duplication (frameshift variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 994409	NM_001355436.2(SPTB):c.6193T>G (p.Phe2065Val)	SPTB (F2065V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12840	NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro)	SPTB (R2064P)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GPathogenic
Select item 2690735	NM_001355436.2(SPTB):c.6188_6189del (p.Glu2063fs)	SPTB (E2063fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1028697	NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly)	SPTB (W2061G)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GUncertain significance
Select item 12834	NM_001355436.2(SPTB):c.6177del (p.Ser2060fs)	SPTB (S2060fs)	Deletion (frameshift variant)	Elliptocytosis 3	GPathogenic
Select item 3338264	NM_001355436.2(SPTB):c.6175G>C (p.Ala2059Pro)	SPTB (A2059P)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GLikely pathogenic
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 996355	NM_001355436.2(SPTB):c.6173C>T (p.Thr2058Met)	SPTB (T2058M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683448	NM_001355436.2(SPTB):c.6168dup (p.Ser2057fs)	SPTB (S2057fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 12831	NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro)	SPTB (A2053P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2287023	NM_001355436.2(SPTB):c.6142A>C (p.Ile2048Leu)	SPTB (I2048L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12833	NM_001355436.2(SPTB):c.6135_6136dup (p.Lys2046fs)	SPTB (K2046fs)	Microsatellite (frameshift variant)	Elliptocytosis 3	GPathogenic
Select item 257133	NM_001355436.2(SPTB):c.6132G>A (p.Val2044=)	SPTB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1330647	NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs)	SPTB (T2040fs)	Microsatellite (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 3237209	NM_001355436.2(SPTB):c.6109_6112delinsCTTT (p.Phe2037_Gly2038delinsLeuTer)	SPTB	Indel (nonsense)	not provided	GLikely pathogenic
Select item 522602	NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro)	SPTB (L2032P)	Single nucleotide variant (missense variant)	Hereditary spherocytosis	GPathogenic
Select item 12839	NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)	SPTB (L2025R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433899	NM_001355436.2(SPTB):c.6071G>A (p.Trp2024Ter)	SPTB (W2024*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1163365	NM_001355436.2(SPTB):c.6070T>A (p.Trp2024Arg)	SPTB (W2024R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 811398	NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro)	SPTB (A2021P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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