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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1259	NM_022356.4(P3H1):c.2055+18G>A	P3H1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 750796	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	RPE65 (D477G)	Single nucleotide variant (missense variant)	RPE65-Related Disorders +5 more	GPathogenic/Likely pathogenic
Select item 1695419	NM_000183.3(HADHB):c.693del (p.Ala232fs)	HADHB (A210fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 14052	NM_001164508.2(NEB):c.7431+1919_7536+374del	NEB	Deletion (splice acceptor variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic
Select item 3024113	NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)	DES	Microsatellite (inframe_insertion +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 31126	NM_152383.5(DIS3L2):c.2394+5G>A	DIS3L2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301869	NM_001200016.2(NAA80):c.323T>C (p.Leu108Pro)	HYAL3, NAA80 (L108P +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GLikely pathogenic
Select item 126542	NM_000306.4(POU1F1):c.665+1G>T	POU1F1	Single nucleotide variant (splice donor variant)	Pituitary hormone deficiency, combined, 1	GPathogenic
Select item 242463	NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	ACAD9 (E413K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 18229	NM_000477.7(ALB):c.1771del (p.Cys591fs)	ALB (C591fs)	Deletion (frameshift variant)	ALBUMIN BAZZANO	Gother
Select item 871101	NM_000345.4(SNCA):c.44T>C (p.Val15Ala)	SNCA (V15A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 16412	NM_000508.3(FGA):c.116T>A (p.Val39Asp)	FGA (V39D)	Single nucleotide variant (missense variant)	FIBRINOGEN CANTERBURY	Gother
Select item 721326	NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)	DNAJC21 (R274Q)	Single nucleotide variant (missense variant)	DNAJC21-related condition +3 more	GBenign/Likely benign
Select item 222066	NM_001012339.3(DNAJC21):c.983+1G>A	DNAJC21	Single nucleotide variant (splice donor variant)	Bone marrow failure syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 1174703	NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)	DNAJC21 (R339Q)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +2 more	GUncertain significance
Select item 1336969	NM_001012339.3(DNAJC21):c.1186-531G>A	DNAJC21 (E428K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 810839	NM_003135.3(SRP19):c.189+5G>A	SRP19	Single nucleotide variant (intron variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 372141	NM_003118.4(SPARC):c.787G>A (p.Glu263Lys)	LOC126807556, SPARC (E263K +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 17	GPathogenic
Select item 372140	NM_003118.4(SPARC):c.497G>A (p.Arg166His)	SPARC (R166H +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 17	GPathogenic
Select item 929436	NM_014780.5(CUL7):c.418_419del (p.Thr140fs)	CUL7 (T140fs)	Microsatellite (frameshift variant)	3M syndrome 1	GPathogenic
Select item 39759	NM_000162.5(GCK):c.1015G>A (p.Glu339Lys)	GCK (E339K +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2498197	NC_000007.14:g.66971410_66990307del	SBDS	Deletion	Shwachman-Diamond syndrome 1	GPathogenic
Select item 1328553	NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)	SBDS (R218Q)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 more	GLikely pathogenic
Select item 21545	NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	SBDS (R218*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21544	NM_016038.4(SBDS):c.651C>T (p.Phe217=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 21543	NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)	SBDS (I212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 21542	NM_016038.4(SBDS):c.624+1G>C	SBDS	Single nucleotide variant (splice donor variant)	not provided	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 418467	NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)	SBDS (R175W)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 21541	NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)	SBDS (R169C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2433145	NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)	SBDS (Q152fs)	Duplication (frameshift variant)	Aplastic anemia +1 more	GLikely pathogenic
Select item 372498	NM_016038.4(SBDS):c.388G>A (p.Val130Met)	SBDS (V130M)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 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 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 21539	NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	SBDS (E99fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
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 260684	NM_016038.4(SBDS):c.258+19A>G	SBDS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	SBDS-related condition +11 more	GPathogenic/Likely pathogenic
Select item 21538	NM_016038.4(SBDS):c.258+1G>C	SBDS	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 21537	NM_016038.4(SBDS):c.201A>G (p.Lys67=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 +7 more	GPathogenic/Likely pathogenic
Select item 3195	NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	SBDS (K62*)	Indel (nonsense)	SBDS-related condition +4 more	GPathogenic
Select item 1675126	NM_016038.4(SBDS):c.173T>C (p.Val58Ala)	SBDS (V58A)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +2 more	GUncertain significance
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 21536	NM_016038.4(SBDS):c.141C>T (p.Leu47=)	SBDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
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 440249	NM_016038.4(SBDS):c.129-71G>A	SBDS	Single nucleotide variant (intron variant)	Shwachman-Diamond syndrome 1 +2 more	GBenign
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 265256	NM_016038.4(SBDS):c.120del (p.Ser41fs)	SBDS (S41fs)	Deletion (frameshift variant)	Shwachman-Diamond syndrome 1 +2 more	GPathogenic
Select item 3198	NM_016038.4(SBDS):c.101dup (p.Asn34fs)	SBDS (N34fs)	Duplication (frameshift variant)	Shwachman-Diamond syndrome 1	GPathogenic
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 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 807486	NM_016038.4(SBDS):c.18del (p.Thr7fs)	SBDS (T7fs)	Deletion (frameshift variant)	Aplastic anemia +1 more	GPathogenic
Select item 449094	NM_016038.4(SBDS):c.13del (p.Thr5fs)	SBDS (T5fs)	Deletion (frameshift variant)	Shwachman-Diamond syndrome 1 +2 more	GPathogenic
Select item 425646	NM_000089.4(COL1A2):c.1197+5G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 2584941	NM_182931.3(KMT2E):c.5483dup (p.Gln1829fs)	KMT2E (Q1787fs +1 more)	Duplication (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2500119	NM_019841.7(TRPV5):c.1792G>A (p.Val598Met)	TRPV5 (V598M)	Single nucleotide variant (missense variant)	Renal Calcium Wasting Hypercalciuria	GPathogenic
Select item 684547	NM_003235.5(TG):c.5686+1G>T	TG	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1676827	NM_003995.4(NPR2):c.2519+3_2519+4insGGACCAAATCCTACCCCAGTG	NPR2	Insertion (splice donor variant)	not provided	GUncertain significance
Select item 192301	NM_004523.4(KIF11):c.790-1G>T	KIF11	Single nucleotide variant (splice acceptor variant)	Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)	GPathogenic
Select item 453264	NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter)	KIF11 (Q744*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 560164	NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys)	HTRA1 (S205C)	Single nucleotide variant (missense variant)	CARASIL syndrome	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 1705022	NM_017547.4(FOXRED1):c.733+1G>A	FOXRED1	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 19 +1 more	GPathogenic/Likely pathogenic
Select item 214447	NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu)	FOXRED1 (G307E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19 +2 more	GConflicting classifications of pathogenicity
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 560630	NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)	VWF (S1486L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 100322	NM_000552.5(VWF):c.4079T>C (p.Val1360Ala)	VWF (V1360A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 289	NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)	VWF (R1308C)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +3 more	GPathogenic
Select item 870469	NM_016123.4(IRAK4):c.1049del (p.Gly350fs)	IRAK4 (G147fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 67	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 2617514	NM_006843.3(SDS):c.940C>T (p.Arg314Trp)	SDS (R314W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474284	NM_006843.3(SDS):c.836G>C (p.Ser279Thr)	SDS (S279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474976	NM_006843.3(SDS):c.826G>A (p.Ala276Thr)	SDS (A276T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236811	NM_006843.3(SDS):c.788A>G (p.Lys263Arg)	SDS (K263R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525176	NM_006843.3(SDS):c.641C>A (p.Pro214His)	SDS (P214H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551448	NM_006843.3(SDS):c.536G>A (p.Gly179Glu)	SDS (G179E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357980	NM_006843.3(SDS):c.508G>A (p.Gly170Arg)	SDS (G170R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745995	NM_006843.3(SDS):c.504C>T (p.Gly168=)	SDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2332082	NM_006843.3(SDS):c.487A>G (p.Ile163Val)	SDS (I163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303007	NM_006843.3(SDS):c.435C>A (p.His145Gln)	SDS (H145Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605274	NM_006843.3(SDS):c.421A>C (p.Ile141Leu)	SDS (I141L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471219	NM_006843.3(SDS):c.404C>A (p.Pro135His)	SDS (P135H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463506	NM_006843.3(SDS):c.383C>T (p.Pro128Leu)	SDS (P128L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562226	NM_006843.3(SDS):c.371C>T (p.Ala124Val)	SDS (A124V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379760	NM_006843.3(SDS):c.352G>C (p.Glu118Gln)	SDS (E118Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324094	NM_006843.3(SDS):c.292C>G (p.Arg98Gly)	SDS (R98G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494682	NM_006843.3(SDS):c.289G>A (p.Glu97Lys)	SDS (E97K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247593	NM_006843.3(SDS):c.259G>A (p.Val87Met)	SDS (V87M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708699	NM_006843.3(SDS):c.241G>A (p.Val81Ile)	SDS (V81I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621504	NM_006843.3(SDS):c.235C>A (p.Leu79Ile)	SDS (L79I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726251	NM_006843.3(SDS):c.201C>T (p.Asn67=)	SDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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