ClinVar for MedGen (Select 8063) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2678065	NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)	PRF1 (C73Y)	Single nucleotide variant (missense variant)	Aplastic anemia	GLikely pathogenic
Select item 2678064	NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)	PRF1 (L360fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 2678063	NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)	PRF1 (W425*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 2678062	NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)	PRF1 (L314fs)	Indel (frameshift variant)	Aplastic anemia	GPathogenic
Select item 2678061	NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)	PRF1 (E507*)	Single nucleotide variant (nonsense)	Aplastic anemia	GPathogenic
Select item 2678060	NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)	PRF1 (G306C)	Single nucleotide variant (missense variant)	Aplastic anemia	GPathogenic
Select item 2678059	NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)	PRF1 (Q366*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 2678058	NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)	PRF1 (G132R)	Single nucleotide variant (missense variant)	Aplastic anemia	GPathogenic
Select item 2678057	NM_001083116.3(PRF1):c.581dup (p.Arg195fs)	PRF1 (R195fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678055	NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)	PRF1 (Q160*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2678054	NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)	PRF1 (W328fs)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678053	NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)	PRF1 (E175*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2678052	NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)	PRF1 (R232C)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 2678051	NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)	PRF1 (N78fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678050	NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)	PRF1 (H269fs)	Indel (frameshift variant)	Aplastic anemia	GPathogenic
Select item 2678049	NM_001083116.3(PRF1):c.539+2T>A	PRF1	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 2678048	NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)	PRF1 (W461*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676968	NM_002485.5(NBN):c.1104dup (p.Ser369fs)	NBN (S287fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676967	NM_002485.5(NBN):c.480+1G>A	NBN	Single nucleotide variant (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676966	NM_002485.5(NBN):c.1029del (p.Gln344fs)	NBN (Q262fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676965	NM_002485.5(NBN):c.1872_1873dup (p.Glu625fs)	LOC126860438, NBN (E543fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676963	NM_002485.5(NBN):c.994+1G>A	NBN	Single nucleotide variant (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676962	NM_002485.5(NBN):c.360_363dup (p.Val122fs)	NBN (V122fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676961	NM_002485.5(NBN):c.11_12del (p.Leu4fs)	NBN (L4fs)	Deletion (5 prime UTR variant +1 more)	Aplastic anemia	GLikely pathogenic
Select item 2676960	NM_002485.5(NBN):c.2166G>A (p.Trp722Ter)	NBN (W640* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676959	NM_002485.5(NBN):c.241del (p.Glu81fs)	NBN (E81fs)	Deletion (5 prime UTR variant +1 more)	Aplastic anemia	GLikely pathogenic
Select item 2676958	NM_002485.5(NBN):c.794dup (p.Pro266fs)	NBN (P184fs +1 more)	Duplication (frameshift variant)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 2676957	NM_002485.5(NBN):c.1357_1360dup (p.Ser454Ter)	NBN (S372* +1 more)	Duplication (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676956	NM_002485.5(NBN):c.1298del (p.Pro433fs)	NBN (P351fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676955	NM_002485.5(NBN):c.1565T>A (p.Leu522Ter)	NBN (L440* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676954	NM_002485.5(NBN):c.742dup (p.Glu248fs)	NBN (E166fs +1 more)	Duplication (frameshift variant)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 2676953	NM_002485.5(NBN):c.1826del (p.Pro609fs)	NBN (P527fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676952	NM_002485.5(NBN):c.1889C>G (p.Ser630Ter)	LOC126860438, NBN (S548* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676951	NM_002485.5(NBN):c.1442C>T (p.Ala481Val)	NBN (A399V +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GUncertain significance
Select item 2676950	NM_002485.5(NBN):c.1397+1dup	NBN	Duplication (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676949	NM_002485.5(NBN):c.172-1del	NBN	Deletion (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676948	NM_002485.5(NBN):c.1481A>T (p.Gln494Leu)	NBN (Q412L +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676947	NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)	NBN (Y376F +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676946	NM_002485.5(NBN):c.1397+1G>A	NBN	Single nucleotide variant (splice donor variant)	Aplastic anemia +1 more	GLikely pathogenic
Select item 2676945	NM_002485.5(NBN):c.1408G>A (p.Glu470Lys)	NBN (E388K +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676944	NM_002485.5(NBN):c.1940G>A (p.Ser647Asn)	NBN (S565N +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676943	NM_002485.5(NBN):c.1984C>A (p.Leu662Met)	NBN (L580M +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676942	NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)	NBN (K326* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 2676941	NM_002485.5(NBN):c.704A>C (p.His235Pro)	NBN (H153P +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676939	NM_002485.5(NBN):c.1029dup (p.Gln344fs)	NBN (Q262fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676938	NM_002485.5(NBN):c.913A>G (p.Ile305Val)	NBN (I223V +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676937	NM_002485.5(NBN):c.40G>T (p.Glu14Ter)	NBN (E14*)	Single nucleotide variant (5 prime UTR variant +1 more)	Aplastic anemia	GLikely pathogenic
Select item 2676936	NM_002485.5(NBN):c.1398-1G>A	NBN	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676935	NM_002485.5(NBN):c.1402dup (p.Arg468fs)	NBN (R386fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676934	NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)	NBN (G598D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 2676933	NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)	NBN (T415fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676932	NM_002485.5(NBN):c.1388_1389del (p.Thr463fs)	NBN (T381fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676931	NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)	NBN (L440fs +1 more)	Insertion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676930	NM_002485.5(NBN):c.1000A>T (p.Lys334Ter)	NBN (K252* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676929	NM_002485.5(NBN):c.782del (p.Asn261fs)	NBN (N179fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2498463	NM_001083116.3(PRF1):c.150del (p.Thr51fs)	PRF1 (T51fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis +3 more	GPathogenic
Select item 2442794	NM_001083116.3(PRF1):c.65del (p.Pro22fs)	PRF1 (P22fs)	Deletion (frameshift variant)	Aplastic anemia +1 more	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 2184312	NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)	NBN (D569G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 2136872	NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)	PRF1 (Y219*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic
Select item 2136869	NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)	PRF1 (R410P)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 2136868	NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)	PRF1	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic
Select item 2073383	NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)	PRF1 (D313V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 2055336	NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)	PRF1 (S150*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GPathogenic
Select item 1982898	NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)	PRF1 (H190Y)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 1788222	NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)	NBN	Deletion (nonsense)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 1777265	NM_002485.5(NBN):c.1651del (p.Arg551fs)	NBN (R469fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1765281	NM_002485.5(NBN):c.896G>A (p.Arg299Lys)	NBN (R217K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1694131	NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)	PRF1 (S168N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1544724	NM_198253.3(TERT):c.375C>T (p.Asn125=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +9 more	GLikely benign
Select item 1517029	NM_002485.5(NBN):c.995-23_998inv	NBN	Inversion (splice acceptor variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GLikely pathogenic
Select item 1498158	NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)	PRF1 (E253K)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 1453183	NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)	NBN (Y240* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic
Select item 1452434	NM_002485.5(NBN):c.14_23del (p.Leu5fs)	NBN (L5fs)	Deletion (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 1451838	NM_002485.5(NBN):c.2071del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 1450161	NM_002485.5(NBN):c.857A>G (p.Gln286Arg)	NBN (Q286R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GUncertain significance
Select item 1446910	NM_001083116.3(PRF1):c.563dup (p.Leu189fs)	PRF1 (L189fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1442436	NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys)	PRF1 (R240C)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 1434879	NM_002485.5(NBN):c.1534G>A (p.Glu512Lys)	NBN (E512K +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GUncertain significance
Select item 1431204	NM_002485.5(NBN):c.2099C>G (p.Pro700Arg)	NBN (P618R +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 1412183	NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)	TERT (A357G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +9 more	GUncertain significance
Select item 1395937	NM_002485.5(NBN):c.135T>A (p.His45Gln)	NBN (H45Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 1390895	NM_198253.3(TERT):c.124G>C (p.Gly42Arg)	LOC110806263, TERT (G42R)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +7 more	GUncertain significance
Select item 1387838	NM_002485.5(NBN):c.278C>A (p.Ser93Ter)	NBN (S11* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 1369995	NM_002485.5(NBN):c.1523dup (p.Ser509fs)	NBN (S427fs +1 more)	Duplication (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 1369725	NM_002485.5(NBN):c.1225del (p.Thr409fs)	NBN (T409fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 1332648	NM_002485.5(NBN):c.697A>C (p.Lys233Gln)	NBN (K151Q +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 1331382	NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)	PRF1 (Q481P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +3 more	GConflicting classifications of pathogenicity

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