ClinVar for MedGen (Select 1770239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245003	NC_000023.10:g.(?_123499639)_(123506985_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 3244992	NC_000023.10:g.(?_123497345)_(123505232_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 3244981	NC_000023.10:g.(?_123504006)_(123505241_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 3244970	NC_000023.10:g.(?_123499591)_(123505241_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 3237463	NM_002351.5(SH2D1A):c.162C>A (p.Tyr54Ter)	SH2D1A (Y54*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 3001969	NM_002351.5(SH2D1A):c.84C>T (p.Ser28=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 2917285	NM_002351.5(SH2D1A):c.87T>C (p.Tyr29=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 2839435	NM_002351.5(SH2D1A):c.96G>A (p.Arg32=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 2810079	NM_002351.5(SH2D1A):c.152T>C (p.Ile51Thr)	SH2D1A (I51T)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 2800067	NM_002351.5(SH2D1A):c.202-10T>C	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 2792835	NM_002351.5(SH2D1A):c.219T>C (p.His73=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 2790396	NM_002351.5(SH2D1A):c.366T>C (p.Asp122=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 2737365	NM_002351.5(SH2D1A):c.201+1G>A	SH2D1A	Single nucleotide variant (splice donor variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2737364	NM_002351.5(SH2D1A):c.138-1G>A	SH2D1A	Single nucleotide variant (splice acceptor variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2706624	NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)	SH2D1A (C42*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2695214	NM_002351.5(SH2D1A):c.138-7T>C	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 2501803	NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)	SH2D1A (H8P)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GConflicting classifications of pathogenicity
Select item 2444355	NM_002351.5(SH2D1A):c.158C>T (p.Thr53Ile)	SH2D1A (T53I)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 2442798	NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)	SH2D1A (M1V)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2424420	NC_000023.10:g.(?_123494030)_(123499653_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2424419	NC_000023.10:g.(?_123480147)_(123505241_?)dup	SH2D1A	Duplication	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 2424418	NC_000023.10:g.(?_123499591)_(123499694_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2139610	NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)	SH2D1A (A66P)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 2138716	NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)	SH2D1A (Q99*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2138715	NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)	SH2D1A (Q88fs)	Duplication (frameshift variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2138714	NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)	SH2D1A (S34R)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2090086	NM_002351.5(SH2D1A):c.201+20del	SH2D1A	Deletion (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 2019967	NM_002351.5(SH2D1A):c.201+12T>C	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 2017145	NM_002351.5(SH2D1A):c.45C>T (p.Thr15=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 2003485	NM_002351.5(SH2D1A):c.312G>A (p.Lys104=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 1902903	NM_002351.5(SH2D1A):c.292C>T (p.Leu98=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 1902610	NM_002351.5(SH2D1A):c.120G>A (p.Val40=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 1805004	NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)	SH2D1A (I84T)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1722010	NM_002351.5(SH2D1A):c.121T>A (p.Tyr41Asn)	SH2D1A (Y41N)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1718192	NM_002351.5(SH2D1A):c.140A>G (p.Tyr47Cys)	SH2D1A (Y47C)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1694163	NM_002351.5(SH2D1A):c.273T>C (p.Asp91=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1686183	NM_002351.5(SH2D1A):c.202-1G>C	SH2D1A	Single nucleotide variant (splice acceptor variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1686182	NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn)	SH2D1A (Y54N)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1651086	NM_002351.5(SH2D1A):c.373C>T (p.Leu125=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 1634609	NM_002351.5(SH2D1A):c.138-19G>A	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GBenign/Likely benign
Select item 1610925	NM_002351.5(SH2D1A):c.202-17G>A	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 1568461	NM_002351.5(SH2D1A):c.228T>C (p.Tyr76=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 1518501	NM_002351.5(SH2D1A):c.201+2T>C	SH2D1A	Single nucleotide variant (splice donor variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 1488910	NM_002351.5(SH2D1A):c.351A>G (p.Ile117Met)	SH2D1A (I114M +1 more)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1481815	NM_002351.5(SH2D1A):c.102C>T (p.Ser34=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1471227	NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly)	SH2D1A	Single nucleotide variant (stop lost)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1459977	NC_000023.10:g.(?_123480493)_(123505241_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1459603	NM_002351.5(SH2D1A):c.245dup (p.Asn82fs)	SH2D1A (N82fs)	Duplication (frameshift variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1458979	NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter)	SH2D1A (W64*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1455661	NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr)	SH2D1A (M1T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1425284	NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val)	SH2D1A (G113V)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1424854	NM_002351.5(SH2D1A):c.201+4T>G	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1410736	NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val)	SH2D1A (G49V)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1397679	NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu)	SH2D1A (D91E)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 1210283	NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]	SH2D1A	Complex	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 1169457	NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser)	SH2D1A (A3S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1166134	NM_002351.5(SH2D1A):c.144C>T (p.His48=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 1116192	NM_002351.5(SH2D1A):c.330T>C (p.Ser110=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 1115046	NM_002351.5(SH2D1A):c.183A>C (p.Thr61=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 1076142	NC_000023.10:g.(?_123480147)_(123480649_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 970680	NM_002351.5(SH2D1A):c.197_201+9del	SH2D1A	Deletion (splice donor variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 963742	NM_002351.5(SH2D1A):c.219T>A (p.His73Gln)	SH2D1A (H73Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 956716	NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup)	SH2D1A	Duplication (inframe_insertion)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 952979	NM_002351.5(SH2D1A):c.129A>G (p.Leu43=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 952469	NM_002351.5(SH2D1A):c.118G>A (p.Val40Met)	SH2D1A (V40M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 944992	NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr)	SH2D1A (C44Y)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 914830	NM_002351.5(SH2D1A):c.*1753A>G	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 914829	NM_002351.5(SH2D1A):c.*1601T>C	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 914333	NM_002351.5(SH2D1A):c.*1192A>G	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 914332	NM_002351.5(SH2D1A):c.*1077G>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 913204	NM_002351.5(SH2D1A):c.*511A>G	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 913203	NM_002351.5(SH2D1A):c.*110T>C	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 913202	NM_002351.5(SH2D1A):c.*26A>T	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 913201	NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)	SH2D1A (C121S +1 more)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 871639	NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln)	SH2D1A (R55Q)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 858571	NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu)	SH2D1A (P121L +1 more)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 837280	NM_002351.5(SH2D1A):c.346+6A>T	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 748224	NM_002351.5(SH2D1A):c.202-5del	SH2D1A	Deletion (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely benign
Select item 632981	NM_002351.5(SH2D1A):c.347-32_347-28del	SH2D1A	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 583520	NC_000023.11:g.(?_124346297)_(124371411_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 548931	NM_002351.5(SH2D1A):c.138-3C>G	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 547773	NM_002351.5(SH2D1A):c.385T>C (p.Ter129Arg)	SH2D1A	Single nucleotide variant (stop lost)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GLikely pathogenic
Select item 547772	NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter)	SH2D1A (W64*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 547771	NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly)	SH2D1A (D2G)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GLikely pathogenic
Select item 536456	NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val)	SH2D1A (G39V)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 450974	NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg)	SH2D1A (K18R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380853	NM_003975.4(SH2D2A):c.123+181C>T	NTRK1, SH2D2A	Single nucleotide variant (5 prime UTR variant +1 more)	X-linked lymphoproliferative disease due to SH2D1A deficiency +2 more	GBenign
Select item 367887	NM_002351.5(SH2D1A):c.*1755G>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 367886	NM_002351.5(SH2D1A):c.*1689C>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 367885	NM_002351.5(SH2D1A):c.*1321A>G	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 367884	NM_002351.5(SH2D1A):c.*1100C>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 367883	NM_002351.5(SH2D1A):c.*866A>G	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 367882	NM_002351.5(SH2D1A):c.*863T>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 367881	NM_002351.5(SH2D1A):c.*862T>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367880	NM_002351.5(SH2D1A):c.*860T>C	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 367879	NM_002351.5(SH2D1A):c.*759G>C	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 367878	NM_002351.5(SH2D1A):c.*647G>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
Select item 367877	NM_002351.5(SH2D1A):c.*257A>T	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 367876	NM_002351.5(SH2D1A):c.*212G>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 367873	NM_002351.5(SH2D1A):c.346+3A>G	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GBenign/Likely benign

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