SBDS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +114 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic
Select item 1338843	GRCh38/hg38 7q11.21(chr7:66791158-67272772)	LINC02604, LOC121740683 +16 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 2498197	NC_000007.14:g.66971410_66990307del	SBDS	Deletion	Shwachman-Diamond syndrome 1	GPathogenic
Select item 1182411	NM_016038.4(SBDS):c.*69G>A	SBDS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1758559	NM_016038.4(SBDS):c.736G>A (p.Asp246Asn)	SBDS (D246N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 503765	NM_016038.4(SBDS):c.728AAG[1] (p.Glu244del)	SBDS (E244del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 810095	NM_016038.4(SBDS):c.719A>G (p.Lys240Arg)	SBDS (K240R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2451811	NM_016038.4(SBDS):c.711C>T (p.Leu237=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2520095	NM_016038.4(SBDS):c.695G>T (p.Gly232Val)	SBDS (G232V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436638	NM_016038.4(SBDS):c.671T>C (p.Ile224Thr)	SBDS (I224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1754789	NM_016038.4(SBDS):c.666G>A (p.Glu222=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3254853	NM_016038.4(SBDS):c.664G>T (p.Glu222Ter)	SBDS (E222*)	Single nucleotide variant (nonsense)	Shwachman-Diamond syndrome 1	GLikely pathogenic
Select item 1163279	NM_016038.4(SBDS):c.664G>C (p.Glu222Gln)	SBDS (E222Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328553	NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)	SBDS (R218Q)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GLikely pathogenic
Select item 21545	NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	SBDS (R218*)	Single nucleotide variant (nonsense)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 21544	NM_016038.4(SBDS):c.651C>T (p.Phe217=)	SBDS	Single nucleotide variant (synonymous variant)	Shwachman-Diamond syndrome 1 +3 more	GBenign
Select item 3157979	NM_016038.4(SBDS):c.635T>G (p.Ile212Ser)	SBDS (I212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 21543	NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)	SBDS (I212T)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +3 more	GBenign/Likely benign
Select item 1339526	NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr)	SBDS (C210Y)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GLikely pathogenic
Select item 1033391	NM_016038.2(SBDS):c.625-1delG	SBDS	Deletion	Shwachman-Diamond syndrome 1	GPathogenic
Select item 432609	NM_016038.4(SBDS):c.624+2dup	SBDS	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 2678600	NM_016038.4(SBDS):c.624+1G>A	SBDS	Single nucleotide variant (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 21542	NM_016038.4(SBDS):c.624+1G>C	SBDS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1751823	NM_016038.4(SBDS):c.613C>T (p.Gln205Ter)	SBDS (Q205*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3356599	NM_016038.4(SBDS):c.587del (p.Val196fs)	SBDS (V196fs)	Deletion (frameshift variant)	SBDS-related disorder	GLikely pathogenic
Select item 1749713	NM_016038.4(SBDS):c.579G>A (p.Leu193=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2441911	NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)	SBDS (N181D)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 2214208	NM_016038.4(SBDS):c.524G>A (p.Arg175Gln)	SBDS (R175Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2678593	NM_016038.4(SBDS):c.523del (p.Arg175fs)	SBDS (R175fs)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 418467	NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)	SBDS (R175W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1745527	NM_016038.4(SBDS):c.512A>G (p.His171Arg)	SBDS (H171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 21541	NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)	SBDS (R169C)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 2543766	NM_016038.4(SBDS):c.498G>C (p.Lys166Asn)	SBDS (K166N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431953	NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)	SBDS (Q160*)	Single nucleotide variant (nonsense)	Shwachman-Diamond syndrome 1	GLikely pathogenic
Select item 929404	NM_016038.4(SBDS):c.460-1G>A	SBDS	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 2498198	NM_016038.4(SBDS):c.258+347_459+223del	SBDS	Deletion (splice acceptor variant +1 more)	Shwachman-Diamond syndrome 1	GPathogenic
Select item 1292190	NM_016038.4(SBDS):c.459+196T>A	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233591	NM_016038.4(SBDS):c.459+92A>G	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2433145	NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)	SBDS (Q152fs)	Duplication (frameshift variant)	Shwachman-Diamond syndrome 1 +1 more	GLikely pathogenic
Select item 3240425	NM_016038.4(SBDS):c.443A>G (p.Lys148Arg)	SBDS (K148R)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2485193	NM_016038.4(SBDS):c.431T>C (p.Val144Ala)	SBDS (V144A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337889	NM_016038.4(SBDS):c.429G>A (p.Ser143=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2678594	NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)	SBDS (S143L)	Single nucleotide variant (missense variant)	Aplastic anemia	GLikely pathogenic
Select item 372498	NM_016038.4(SBDS):c.388G>A (p.Val130Met)	SBDS (V130M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3226706	NM_016038.4(SBDS):c.387C>T (p.Thr129=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1337847	NM_016038.4(SBDS):c.386C>G (p.Thr129Ser)	SBDS (T129S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 21540	NM_016038.4(SBDS):c.377G>C (p.Arg126Thr)	SBDS (R126T)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	Gnot provided
Select item 985338	NM_016038.4(SBDS):c.373_374del (p.Lys125fs)	SBDS (K125fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1292188	NM_016038.4(SBDS):c.357T>C (p.Cys119=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2254287	NM_016038.4(SBDS):c.351C>G (p.Asp117Glu)	SBDS (D117E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436637	NM_016038.4(SBDS):c.345G>A (p.Val115=)	SBDS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2451812	NM_016038.4(SBDS):c.333T>C (p.Ile111=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3369839	NM_016038.4(SBDS):c.331A>G (p.Ile111Val)	SBDS (I111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327083	NM_016038.4(SBDS):c.326G>C (p.Arg109Thr)	SBDS (R109T)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 3157978	NM_016038.4(SBDS):c.313G>A (p.Glu105Lys)	SBDS (E105K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2678598	NM_016038.4(SBDS):c.307_308del (p.Gln103fs)	SBDS (Q103fs)	Microsatellite (frameshift variant)	Aplastic anemia	GPathogenic
Select item 1325034	NM_016038.4(SBDS):c.305_308del (p.Thr102fs)	SBDS (T102fs)	Microsatellite (frameshift variant)	Shwachman-Diamond syndrome 1	GLikely pathogenic
Select item 21539	NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	SBDS (E99fs)	Microsatellite (frameshift variant)	Aplastic anemia +2 more	GPathogenic
Select item 1795545	NM_016038.4(SBDS):c.274G>C (p.Glu92Gln)	SBDS (E92Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1794536	NM_016038.4(SBDS):c.266C>G (p.Thr89Ser)	SBDS (T89S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 549502	NM_016038.4(SBDS):c.260T>G (p.Ile87Ser)	SBDS (I87S)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 2678603	NM_016038.4(SBDS):c.259-2A>C	SBDS	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 1267940	NM_016038.4(SBDS):c.258+54T>G	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265805	NM_016038.4(SBDS):c.258+48T>C	SBDS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260684	NM_016038.4(SBDS):c.258+19A>G	SBDS	Single nucleotide variant (intron variant)	Shwachman-Diamond syndrome 1 +2 more	GBenign
Select item 2505939	NM_016038.4(SBDS):c.258+6T>C	SBDS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	not specified +11 more	GPathogenic/Likely pathogenic
Select item 21538	NM_016038.4(SBDS):c.258+1G>C	SBDS	Single nucleotide variant (splice donor variant)	Shwachman-Diamond syndrome 1 +3 more	GPathogenic
Select item 1788090	NM_016038.4(SBDS):c.222G>T (p.Ala74=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1787231	NM_016038.4(SBDS):c.217A>C (p.Ser73Arg)	SBDS (S73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 21537	NM_016038.4(SBDS):c.201A>G (p.Lys67=)	SBDS	Single nucleotide variant (synonymous variant)	Shwachman-Diamond syndrome 1 +3 more	GBenign
Select item 549500	NM_016038.4(SBDS):c.199A>G (p.Lys67Glu)	SBDS (K67E)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 449095	NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	SBDS (K62*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 3195	NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	SBDS (K62*)	Indel (nonsense)	Shwachman-Diamond syndrome 1 +4 more	GPathogenic
Select item 1267216	NM_016038.4(SBDS):c.183T>C (p.Ser61=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1675126	NM_016038.4(SBDS):c.173T>C (p.Val58Ala)	SBDS (V58A)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 3240426	NM_016038.4(SBDS):c.171dup (p.Val58fs)	SBDS (V58fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 807485	NM_016038.4(SBDS):c.167T>C (p.Val56Ala)	SBDS (V56A)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GLikely pathogenic
Select item 3342700	NM_016038.4(SBDS):c.166G>A (p.Val56Met)	SBDS (V56M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3240424	NM_016038.4(SBDS):c.164C>G (p.Ser55Ter)	SBDS (S55*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2291304	NM_016038.4(SBDS):c.160C>T (p.His54Tyr)	SBDS (H54Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 21536	NM_016038.4(SBDS):c.141C>T (p.Leu47=)	SBDS	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2678596	NM_016038.4(SBDS):c.129-71_140del	SBDS	Deletion (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 549499	NM_016038.4(SBDS):c.131A>G (p.Glu44Gly)	SBDS (E44G)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 2678599	NM_016038.4(SBDS):c.129-2A>C	SBDS	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2503284	NM_016038.4(SBDS):c.129-3A>G	SBDS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 440249	NM_016038.4(SBDS):c.129-71G>A	SBDS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1286723	NM_016038.4(SBDS):c.129-76A>G	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285702	NM_016038.4(SBDS):c.129-80T>C	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253516	NM_016038.4(SBDS):c.129-87A>G	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440248	NM_016038.4(SBDS):c.129-160T>G	SBDS	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1292187	NM_016038.4(SBDS):c.129-170G>A	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292186	NM_016038.4(SBDS):c.129-185G>A	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262751	NM_016038.4(SBDS):c.129-190A>C	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239961	NM_016038.4(SBDS):c.128+266G>A	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign

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