SH2D1A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1287179	NC_000023.11:g.124346012G>A	SH2D1A	Single nucleotide variant	not provided	GBenign
Select item 1283992	NC_000023.11:g.124346149G>A	SH2D1A	Single nucleotide variant	not provided	GBenign
Select item 583520	NC_000023.11:g.(?_124346297)_(124371411_?)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 367866	NC_000023.11:g.124346297C>T	SH2D1A	Single nucleotide variant	Autoinflammatory syndrome +2 more	GBenign
Select item 367867	NM_002351.4(SH2D1A):c.-318G>C	SH2D1A	Single nucleotide variant	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GBenign/Likely benign
Select item 367868	NM_002351.4(SH2D1A):c.-247G>A	SH2D1A	Single nucleotide variant	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 367869	NM_002351.4(SH2D1A):c.-124T>A	SH2D1A	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10907	NC_000023.11:g.(?_124346562)_(124346780_124365760)del	SH2D1A	Deletion	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 367870	NM_002351.5(SH2D1A):c.-74T>A	SH2D1A	Single nucleotide variant (5 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GBenign/Likely benign
Select item 10906	NM_002351.5(SH2D1A):c.-10C>T	SH2D1A	Single nucleotide variant (5 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
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 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 10908	NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile)	SH2D1A (M1I)	Single nucleotide variant (missense variant +1 more)	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 1169457	NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser)	SH2D1A (A3S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +2 more	GConflicting classifications of pathogenicity
Select item 633415	NM_002351.5(SH2D1A):c.20A>G (p.Tyr7Cys)	SH2D1A (Y7C)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative syndrome	GPathogenic
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 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 367872	NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)	SH2D1A	Single nucleotide variant (synonymous variant)	Holoprosencephaly 13, X-linked +4 more	GBenign/Likely benign
Select item 367871	NM_002351.5(SH2D1A):c.48C>A (p.Gly16=)	SH2D1A	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +2 more	GBenign/Likely benign
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 1013078	NM_002351.5(SH2D1A):c.62T>G (p.Leu21Arg)	SH2D1A (L21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 10901	NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr)	SH2D1A (R32T)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
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 871638	NM_002351.5(SH2D1A):c.98A>G (p.Asp33Gly)	SH2D1A (D33G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138714	NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)	SH2D1A (S34R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 952469	NM_002351.5(SH2D1A):c.118G>A (p.Val40Met)	SH2D1A (V40M)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GUncertain significance
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 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 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 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 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 916141	NM_002351.5(SH2D1A):c.137+3_137+6del	SH2D1A	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 65388	NM_002351.5(SH2D1A):c.137+5G>C	SH2D1A	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1215929	NM_002351.5(SH2D1A):c.137+157T>C	SH2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208336	NM_002351.5(SH2D1A):c.137+190G>A	SH2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251845	NM_002351.5(SH2D1A):c.137+276_137+277del	SH2D1A	Deletion (intron variant)	not provided	GBenign
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	GBenign
Select item 3054478	NM_002351.5(SH2D1A):c.138-12A>G	SH2D1A	Single nucleotide variant (intron variant)	SH2D1A-related disorder	GLikely benign
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 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 2737364	NM_002351.5(SH2D1A):c.138-1G>A	SH2D1A	Single nucleotide variant (splice acceptor variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GPathogenic
Select item 10902	NM_002351.5(SH2D1A):c.138-1G>T	SH2D1A	Single nucleotide variant (splice acceptor variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
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 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 10900	NM_002351.5(SH2D1A):c.149_201+106del	SH2D1A	Deletion (splice donor variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
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 521960	NM_002351.5(SH2D1A):c.150C>A (p.Tyr50Ter)	SH2D1A (Y50*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 2661359	NM_002351.5(SH2D1A):c.156T>C (p.Tyr52=)	SH2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 10898	NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter)	SH2D1A (R55*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to SH2D1A deficiency +2 more	GPathogenic
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 10910	NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu)	SH2D1A (R55L)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 1695314	NM_002351.5(SH2D1A):c.167T>C (p.Val56Ala)	SH2D1A (V56A)	Single nucleotide variant (missense variant)	SH2D1A-related disorder +1 more	GUncertain significance
Select item 10899	NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter)	SH2D1A (Q58*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
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 3222079	NM_002351.5(SH2D1A):c.188C>G (p.Ser63Cys)	SH2D1A (S63C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 1338416	NM_002351.5(SH2D1A):c.201+3A>G	SH2D1A	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GLikely pathogenic
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 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 2090086	NM_002351.5(SH2D1A):c.201+20del	SH2D1A	Deletion (intron variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign
Select item 1242343	NM_002351.5(SH2D1A):c.201+277_201+278insAAAG	SH2D1A	Insertion (intron variant)	not provided	GBenign
Select item 1278483	NM_002351.5(SH2D1A):c.201+317T>G	SH2D1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289059	NM_002351.5(SH2D1A):c.202-83C>A	SH2D1A	Single nucleotide variant (intron variant)	not provided	GBenign
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 2571379	NM_002351.5(SH2D1A):c.202-9_202-7del	SH2D1A	Deletion (intron variant)	not provided	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 2571380	NM_002351.5(SH2D1A):c.202-8T>G	SH2D1A	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 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 10905	NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile)	SH2D1A (T68I)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GUncertain significance
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 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 1313738	NM_002351.5(SH2D1A):c.225A>G (p.Arg75=)	SH2D1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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 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 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 1694162	NM_002351.5(SH2D1A):c.261del (p.Gln88fs)	SH2D1A (Q88fs)	Deletion (frameshift variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 1694163	NM_002351.5(SH2D1A):c.273T>C (p.Asp91=)	SH2D1A	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
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 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 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 10904	NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu)	SH2D1A (P101L)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
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 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

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