ClinVar for MedGen (Select 1640046) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24419111.	NM_016038.4(SBDS):c.541A>G (p.Asn181Asp) GRCh37: Chr7:66456207 GRCh38: Chr7:66991220	SBDS	N181D	Shwachman-Diamond syndrome 1	Uncertain significance (Feb 12, 2021)	criteria provided, single submitter
Select item 24331452.	NM_016038.4(SBDS):c.452_453dup (p.Gln152fs) GRCh37: Chr7:66458209-66458210 GRCh38: Chr7:66993222-66993223	SBDS	Q152fs	Shwachman-Diamond syndrome 1	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 24319533.	NM_016038.4(SBDS):c.478C>T (p.Gln160Ter) GRCh37: Chr7:66456270 GRCh38: Chr7:66991283	SBDS	Q160*	Shwachman-Diamond syndrome 1	Likely pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 16751264.	NM_016038.4(SBDS):c.173T>C (p.Val58Ala) GRCh37: Chr7:66459284 GRCh38: Chr7:66994297	SBDS	V58A	Inborn genetic diseases, Shwachman-Diamond syndrome 1, Aplastic anemia	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13395265.	NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr) GRCh37: Chr7:66453482 GRCh38: Chr7:66988495	SBDS	C210Y	Shwachman-Diamond syndrome 1	Likely pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 13369696.	NM_001012339.3(DNAJC21):c.1186-531G>A GRCh37: Chr5:34949744 GRCh38: Chr5:34949639	DNAJC21	E428K	Bone marrow failure syndrome 3, not specified, Shwachman-Diamond syndrome 1, Bone marrow failure syndrome 3	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13285537.	NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) GRCh37: Chr7:66453458 GRCh38: Chr7:66988471	SBDS	R218Q	Shwachman-Diamond syndrome 1	Likely pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 13270838.	NM_016038.4(SBDS):c.326G>C (p.Arg109Thr) GRCh37: Chr7:66458337 GRCh38: Chr7:66993350	SBDS	R109T	Shwachman-Diamond syndrome 1	Uncertain significance (Apr 8, 2021)	criteria provided, single submitter
Select item 13250349.	NM_016038.4(SBDS):c.305_308del (p.Thr102fs) GRCh37: Chr7:66458355-66458358 GRCh38: Chr7:66993368-66993371	SBDS	T102fs	Shwachman-Diamond syndrome 1	Likely pathogenic (Jan 8, 2021)	criteria provided, single submitter
Select item 130347610.	NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs) GRCh37: Chr5:34954038 GRCh38: Chr5:34953933	DNAJC21	K456fs, K469fs, K501fs	not provided, Shwachman-Diamond syndrome 1, Bone marrow failure syndrome 3	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122627311.	NM_003136.4(SRP54):c.1327+16_1327+32del GRCh37: Chr14:35492302-35492318 GRCh38: Chr14:35023096-35023112	SRP54		not provided, Shwachman-Diamond syndrome 1, Neutropenia, severe congenital, 8, autosomal dominant	Benign/Likely benign (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117470312.	NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln) GRCh37: Chr5:34945004 GRCh38: Chr5:34944899	DNAJC21	R339Q	Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116595413.	NM_003136.4(SRP54):c.636A>C (p.Ile212=) GRCh37: Chr14:35480865 GRCh38: Chr14:35011659	SRP54		not specified, not provided, Neutropenia, severe congenital, 8, autosomal dominant, Shwachman-Diamond syndrome 1	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103339114.	NM_016038.2(SBDS):c.625-1delG GRCh37: Chr7:66453486 GRCh38: Chr7:66988499	SBDS		Shwachman-Diamond syndrome 1	Pathogenic (Sep 20, 2018)	criteria provided, single submitter
Select item 92940415.	NM_016038.4(SBDS):c.460-1G>A GRCh37: Chr7:66456289 GRCh38: Chr7:66991302	SBDS		Inborn genetic diseases	Pathogenic (Oct 18, 2021)	criteria provided, single submitter
Select item 81084016.	NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu) GRCh37: Chr11:126134989 GRCh38: Chr11:126265094	SRPRA	Q436E, Q464E	Shwachman-Diamond syndrome 1, Severe congenital neutropenia	Pathogenic (Jan 6, 2020)	no assertion criteria provided
Select item 81083917.	NM_003135.3(SRP19):c.189+5G>A GRCh37: Chr5:112200230 GRCh38: Chr5:112864533	SRP19		Shwachman-Diamond syndrome 1, Severe congenital neutropenia	Pathogenic (Jan 6, 2020)	no assertion criteria provided
Select item 80748618.	NM_016038.4(SBDS):c.18del (p.Thr7fs) GRCh37: Chr7:66460387 GRCh38: Chr7:66995400	SBDS	T7fs	Shwachman-Diamond syndrome 1	Pathogenic (Jun 7, 2019)	criteria provided, single submitter
Select item 80748519.	NM_016038.4(SBDS):c.167T>C (p.Val56Ala) GRCh37: Chr7:66459290 GRCh38: Chr7:66994303	SBDS	V56A	Shwachman-Diamond syndrome 1	Likely pathogenic (Jun 3, 2019)	criteria provided, single submitter
Select item 72132620.	NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln) GRCh37: Chr5:34939040 GRCh38: Chr5:34938935	DNAJC21	R274Q	Shwachman-Diamond syndrome 1, Bone marrow failure syndrome 3, not provided	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54950221.	NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) GRCh37: Chr7:66458403 GRCh38: Chr7:66993416	SBDS	I87S	Shwachman-Diamond syndrome 1	Uncertain significance (Apr 16, 2018)	criteria provided, single submitter
Select item 54950022.	NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) GRCh37: Chr7:66459258 GRCh38: Chr7:66994271	SBDS	K67E	Shwachman-Diamond syndrome 1	Uncertain significance (Apr 16, 2018)	criteria provided, single submitter
Select item 54949923.	NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) GRCh37: Chr7:66459326 GRCh38: Chr7:66994339	SBDS	E44G	Shwachman-Diamond syndrome 1	Uncertain significance (Apr 16, 2018)	criteria provided, single submitter
Select item 44909524.	NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) GRCh37: Chr7:66459273 GRCh38: Chr7:66994286	SBDS	K62*	Intellectual disability, Agenesis of permanent teeth, Deeply set eye, Short stature, Microcephaly, Splenomegaly, not provided, Shwachman-Diamond syndrome 1	Pathogenic/Likely pathogenic (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43085225.	NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) GRCh37: Chr14:35476575-35476577 GRCh38: Chr14:35007369-35007371	SRP54	T117del, T68del	not provided, Neutropenia, severe congenital, 8, autosomal dominant	Pathogenic/Likely pathogenic (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43085126.	NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) GRCh37: Chr14:35476576 GRCh38: Chr14:35007370	SRP54	T115A, T66A	Shwachman-Diamond syndrome 1, Neutropenia, severe congenital, 8, autosomal dominant	Pathogenic (Jan 31, 2020)	no assertion criteria provided
Select item 43085027.	NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) GRCh37: Chr14:35482592 GRCh38: Chr14:35013386	SRP54	G226E, G177E	Inborn genetic diseases	Likely pathogenic (Dec 8, 2017)	criteria provided, single submitter
Select item 41846728.	NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) GRCh37: Chr7:66456225 GRCh38: Chr7:66991238	SBDS	R175W	not provided, Shwachman-Diamond syndrome 1, Aplastic anemia	Conflicting interpretations of pathogenicity (Jan 9, 2023)	criteria provided, conflicting interpretations
Select item 37249829.	NM_016038.4(SBDS):c.388G>A (p.Val130Met) GRCh37: Chr7:66458275 GRCh38: Chr7:66993288	SBDS	V130M	not provided, Shwachman-Diamond syndrome 1	Likely pathogenic (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 26525630.	NM_016038.4(SBDS):c.120del (p.Ser41fs) GRCh37: Chr7:66460285 GRCh38: Chr7:66995298	SBDS	S41fs	not provided, Aplastic anemia, Shwachman-Diamond syndrome 1	Pathogenic (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22206631.	NM_001012339.3(DNAJC21):c.983+1G>A GRCh37: Chr5:34941289 GRCh38: Chr5:34941184	DNAJC21		not provided, Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 21928932.	NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) GRCh37: Chr7:66460307 GRCh38: Chr7:66995320	SBDS	K33T	Shwachman-Diamond syndrome 1	Pathogenic (Jun 1, 2014)	criteria provided, single submitter
Select item 2154533.	NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) GRCh37: Chr7:66453459 GRCh38: Chr7:66988472	SBDS	R218*	not provided	Likely pathogenic (Aug 11, 2022)	criteria provided, single submitter
Select item 2154434.	NM_016038.4(SBDS):c.651C>T (p.Phe217=) GRCh37: Chr7:66453460 GRCh38: Chr7:66988473	SBDS		Inborn genetic diseases, not specified, not provided	Benign (Mar 29, 2017)	criteria provided, multiple submitters, no conflicts
Select item 2154335.	NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) GRCh37: Chr7:66453476 GRCh38: Chr7:66988489	SBDS	I212T	Inborn genetic diseases, not specified, not provided, Shwachman-Diamond syndrome 1	Benign/Likely benign (May 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 2154236.	NM_016038.4(SBDS):c.624+1G>C GRCh37: Chr7:66456123 GRCh38: Chr7:66991136	SBDS		not provided	Pathogenic (Jul 18, 2019)	criteria provided, single submitter
Select item 2154137.	NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) GRCh37: Chr7:66456243 GRCh38: Chr7:66991256	SBDS	R169C	Shwachman-Diamond syndrome 1	Uncertain significance (Apr 16, 2018)	criteria provided, single submitter
Select item 2154038.	NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) GRCh37: Chr7:66458286 GRCh38: Chr7:66993299	SBDS	R126T	Shwachman-Diamond syndrome 1	not provided	no assertion provided
Select item 2153939.	NM_016038.4(SBDS):c.297_300del (p.Glu99fs) GRCh37: Chr7:66458363-66458366 GRCh38: Chr7:66993376-66993379	SBDS	E99fs	Shwachman-Diamond syndrome 1, Aplastic anemia, not provided	Pathogenic (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2153840.	NM_016038.4(SBDS):c.258+1G>C GRCh37: Chr7:66459198 GRCh38: Chr7:66994211	SBDS		Aplastic anemia, Shwachman-Diamond syndrome 1, Inborn genetic diseases, not provided, Shwachman-Diamond syndrome 1	Pathogenic (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2153741.	NM_016038.4(SBDS):c.201A>G (p.Lys67=) GRCh37: Chr7:66459256 GRCh38: Chr7:66994269	SBDS		Inborn genetic diseases, not specified, not provided, Shwachman-Diamond syndrome 1	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2153642.	NM_016038.4(SBDS):c.141C>T (p.Leu47=) GRCh37: Chr7:66459316 GRCh38: Chr7:66994329	SBDS		Inborn genetic diseases, not specified, not provided, Shwachman-Diamond syndrome 1	Benign (Jul 31, 2017)	criteria provided, multiple submitters, no conflicts
Select item 319843.	NM_016038.4(SBDS):c.101dup (p.Asn34fs) GRCh37: Chr7:66460303-66460304 GRCh38: Chr7:66995316-66995317	SBDS	N34fs	Shwachman-Diamond syndrome 1	Pathogenic (Mar 1, 2004)	no assertion criteria provided
Select item 319744.	NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) GRCh37: Chr7:66460381 GRCh38: Chr7:66995394	SBDS	N8K	Shwachman-Diamond syndrome 1	Uncertain significance (Apr 16, 2018)	criteria provided, single submitter
Select item 319645.	NM_016038.4(SBDS):c.258+2T>C GRCh37: Chr7:66459197 GRCh38: Chr7:66994210	SBDS		Shwachman syndrome, Aplastic anemia, Shwachman-Diamond syndrome 1, Inborn genetic diseases, not specified, not provided, Aplastic anemia, Shwachman-Diamond syndrome 1, Deeply set eye, Microcephaly, SplenomegalyAgenesis of permanent teeth, Short stature, ...see more	Pathogenic/Likely pathogenic (Feb 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 319546.	NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) GRCh37: Chr7:66459273-66459274 GRCh38: Chr7:66994286-66994287	SBDS	K62*	Inborn genetic diseases, Aplastic anemia, Shwachman-Diamond syndrome 1, not provided, Shwachman-Diamond syndrome 1	Pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 46