ClinVar for Gene (Select 51119) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382997	NM_016038.4(SBDS):c.160dup (p.His54fs)	SBDS (H54fs)	Duplication (frameshift variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 3382931	NM_016038.4(SBDS):c.40A>G (p.Asn14Asp)	SBDS (N14D)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 more	GUncertain significance
Select item 3381023	NM_016038.4(SBDS):c.259-2A>G	SBDS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3377150	NM_016038.4(SBDS):c.566del (p.Lys189fs)	SBDS (K189fs)	Deletion (frameshift variant)	Shwachman-Diamond syndrome 1	GLikely pathogenic
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 3356599	NM_016038.4(SBDS):c.587del (p.Val196fs)	SBDS (V196fs)	Deletion (frameshift variant)	SBDS-related disorder	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 3316234	NM_016038.4(SBDS):c.115T>C (p.Trp39Arg)	SBDS (W39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3240426	NM_016038.4(SBDS):c.171dup (p.Val58fs)	SBDS (V58fs)	Duplication (frameshift variant)	Aplastic anemia	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 3240424	NM_016038.4(SBDS):c.164C>G (p.Ser55Ter)	SBDS (S55*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 3235038	NM_016038.4(SBDS):c.38C>T (p.Thr13Ile)	SBDS (T13I)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
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 3157979	NM_016038.4(SBDS):c.635T>G (p.Ile212Ser)	SBDS (I212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2678603	NM_016038.4(SBDS):c.259-2A>C	SBDS	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2678602	NM_016038.4(SBDS):c.128+1G>A	SBDS	Single nucleotide variant (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2678601	NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)	SBDS (N34I)	Single nucleotide variant (missense variant)	Aplastic anemia	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 2678599	NM_016038.4(SBDS):c.129-2A>C	SBDS	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2678598	NM_016038.4(SBDS):c.307_308del (p.Gln103fs)	SBDS (Q103fs)	Microsatellite (frameshift variant)	Aplastic anemia	GPathogenic
Select item 2678597	NM_016038.4(SBDS):c.115dup (p.Trp39fs)	SBDS (W39fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678596	NM_016038.4(SBDS):c.129-71_140del	SBDS	Deletion (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
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 2678593	NM_016038.4(SBDS):c.523del (p.Arg175fs)	SBDS (R175fs)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678592	NM_016038.4(SBDS):c.107del (p.Val36fs)	SBDS (V36fs)	Deletion (frameshift variant)	Aplastic anemia	GPathogenic
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 2520095	NM_016038.4(SBDS):c.695G>T (p.Gly232Val)	SBDS (G232V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505939	NM_016038.4(SBDS):c.258+6T>C	SBDS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2503284	NM_016038.4(SBDS):c.129-3A>G	SBDS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2500857	NM_016038.4(SBDS):c.128+3G>C	SBDS	Single nucleotide variant (intron variant)	Shwachman-Diamond syndrome 1	GUncertain significance
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 2498197	NC_000007.14:g.66971410_66990307del	SBDS	Deletion	Shwachman-Diamond syndrome 1	GPathogenic
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 2451812	NM_016038.4(SBDS):c.333T>C (p.Ile111=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 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 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 2431953	NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)	SBDS (Q160*)	Single nucleotide variant (nonsense)	Shwachman-Diamond syndrome 1	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 2254287	NM_016038.4(SBDS):c.351C>G (p.Asp117Glu)	SBDS (D117E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238012	NM_016038.4(SBDS):c.53_56dup (p.Met20fs)	SBDS (M20fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 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 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 1758559	NM_016038.4(SBDS):c.736G>A (p.Asp246Asn)	SBDS (D246N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1757172	NM_016038.4(SBDS):c.70G>A (p.Gly24Arg)	SBDS (G24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1751823	NM_016038.4(SBDS):c.613C>T (p.Gln205Ter)	SBDS (Q205*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 1745527	NM_016038.4(SBDS):c.512A>G (p.His171Arg)	SBDS (H171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1737823	NM_016038.4(SBDS):c.40A>T (p.Asn14Tyr)	SBDS (N14Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1734058	NM_016038.4(SBDS):c.36A>G (p.Leu12=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
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 1488532	NC_000007.13:g.(?_65556983)_(66460414_?)dup	SBDS, ASL +5 more	Duplication	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 1340942	GRCh37/hg19 7q11.21(chr7:66288000-66818352)x1	SBDS, TMEM248 +1 more	Copy number loss	not provided	GUncertain significance
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 1338843	GRCh38/hg38 7q11.21(chr7:66791158-67272772)	LINC02604, LOC121740683 +16 more	Copy number gain	Diaphragmatic hernia	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 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 1337627	NM_016038.4(SBDS):c.107T>C (p.Val36Ala)	SBDS (V36A)	Single nucleotide variant (missense variant)	not specified	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 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 1325034	NM_016038.4(SBDS):c.305_308del (p.Thr102fs)	SBDS (T102fs)	Microsatellite (frameshift variant)	Shwachman-Diamond syndrome 1	GLikely pathogenic
Select item 1292190	NM_016038.4(SBDS):c.459+196T>A	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1292185	NM_016038.4(SBDS):c.-16T>A	SBDS	Single nucleotide variant (5 prime UTR variant)	not provided	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 1267940	NM_016038.4(SBDS):c.258+54T>G	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
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 1265805	NM_016038.4(SBDS):c.258+48T>C	SBDS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262751	NM_016038.4(SBDS):c.129-190A>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 1239961	NM_016038.4(SBDS):c.128+266G>A	SBDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239540	NM_016038.4(SBDS):c.128+80T>C	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 1182411	NM_016038.4(SBDS):c.*69G>A	SBDS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 1033391	NM_016038.2(SBDS):c.625-1delG	SBDS	Deletion	Shwachman-Diamond syndrome 1	GPathogenic
Select item 985338	NM_016038.4(SBDS):c.373_374del (p.Lys125fs)	SBDS (K125fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 929404	NM_016038.4(SBDS):c.460-1G>A	SBDS	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 814977	GRCh37/hg19 7q11.21(chr7:65920197-66535478)x3	RABGEF1, TMEM248 +3 more	Copy number gain	not provided	GUncertain significance
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 807486	NM_016038.4(SBDS):c.18del (p.Thr7fs)	SBDS (T7fs)	Deletion (frameshift variant)	Aplastic anemia +1 more	GPathogenic
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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 636875	NM_016038.4(SBDS):c.61A>T (p.Lys21Ter)	SBDS (K21*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 563381	GRCh37/hg19 7q11.21-11.22(chr7:66459397-67330825)x3	SBDS, TYW1	Copy number gain	not provided	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 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 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 508133	NM_016038.4(SBDS):c.108C>T (p.Val36=)	SBDS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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