ClinVar for MedGen (Select 1640046) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 1336969	NM_001012339.3(DNAJC21):c.1186-531G>A	DNAJC21 (E428K)	Single nucleotide variant (missense variant +1 more)	Bone marrow failure syndrome 3 +3 more	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 1303476	NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)	DNAJC21 (K456fs +2 more)	Deletion (frameshift variant)	Shwachman-Diamond syndrome 1 +2 more	GUncertain significance
Select item 1226273	NM_003136.4(SRP54):c.1327+16_1327+32del	SRP54	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1174703	NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)	DNAJC21 (R339Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1165954	NM_003136.4(SRP54):c.636A>C (p.Ile212=)	SRP54	Single nucleotide variant (synonymous variant)	Shwachman-Diamond syndrome 1 +3 more	GBenign/Likely benign
Select item 1033391	NM_016038.2(SBDS):c.625-1delG	SBDS	Deletion	Shwachman-Diamond syndrome 1	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 810840	NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)	SRPRA (Q436E +1 more)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 810839	NM_003135.3(SRP19):c.189+5G>A	SRP19	Single nucleotide variant (intron variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
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 721326	NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)	DNAJC21 (R274Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 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 449094	NM_016038.4(SBDS):c.13del (p.Thr5fs)	SBDS (T5fs)	Deletion (frameshift variant)	Aplastic anemia +2 more	GPathogenic/Likely pathogenic
Select item 440249	NM_016038.4(SBDS):c.129-71G>A	SBDS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 430852	NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)	SRP54 (T117del +1 more)	Microsatellite (inframe_deletion)	Neutropenia, severe congenital, 8, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 430851	NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)	SRP54 (T115A +1 more)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 430850	NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)	SRP54 (G226E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 265256	NM_016038.4(SBDS):c.120del (p.Ser41fs)	SBDS (S41fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
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 222066	NM_001012339.3(DNAJC21):c.983+1G>A	DNAJC21	Single nucleotide variant (splice donor variant)	Shwachman-Diamond syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 219289	NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)	SBDS (K33T)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GPathogenic/Likely 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 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 21542	NM_016038.4(SBDS):c.624+1G>C	SBDS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 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 21539	NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	SBDS (E99fs)	Microsatellite (frameshift variant)	Aplastic anemia +2 more	GPathogenic
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 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 21536	NM_016038.4(SBDS):c.141C>T (p.Leu47=)	SBDS	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 3198	NM_016038.4(SBDS):c.101dup (p.Asn34fs)	SBDS (N34fs)	Duplication (frameshift variant)	Shwachman-Diamond syndrome 1	GPathogenic
Select item 3197	NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)	SBDS (N8K)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	Microcephaly +11 more	GPathogenic/Likely pathogenic
Select item 3195	NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	SBDS (K62*)	Indel (nonsense)	not provided +4 more	GPathogenic

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Items: 54