ClinVar for Gene (Select 4068) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3222079	NM_002351.5(SH2D1A):c.188C>G (p.Ser63Cys)	SH2D1A (S63C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3062521	GRCh37/hg19 Xq25(chrX:123296040-123528525)	SH2D1A, TENM1	Copy number gain	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3054478	NM_002351.5(SH2D1A):c.138-12A>G	SH2D1A	Single nucleotide variant (intron variant)	SH2D1A-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CMC4, CNGA2 +488 more	Copy number gain	not provided	GPathogenic
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 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685007	GRCh37/hg19 Xq24-25(chrX:120750703-124254005)x3	GRIA3, SH2D1A +4 more	Copy number gain	not provided	GPathogenic
Select item 2661359	NM_002351.5(SH2D1A):c.156T>C (p.Tyr52=)	SH2D1A	Single nucleotide variant (synonymous variant)	not provided	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 2571379	NM_002351.5(SH2D1A):c.202-9_202-7del	SH2D1A	Deletion (intron variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter 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 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 2423412	NC_000023.10:g.(?_122318388)_(123505241_?)dup	GRIA3, SH2D1A +3 more	Duplication	not provided	GUncertain significance
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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1701783	Single allele	LOC130068630, LOC130068631 +16 more	Duplication	Xq25 microduplication syndrome	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 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 1694162	NM_002351.5(SH2D1A):c.261del (p.Gln88fs)	SH2D1A (Q88fs)	Deletion (frameshift variant)	Autoinflammatory syndrome	GLikely pathogenic
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)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1455382	NC_000023.10:g.(?_122318388)_(123505241_?)del	GRIA3, SH2D1A +3 more	Deletion	not provided	GUncertain significance
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 1341314	GRCh37/hg19 Xq24-25(chrX:119173583-126584360)x2	ATP1B4, C1GALT1C1 +31 more	Copy number gain	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1341073	GRCh37/hg19 Xq25(chrX:123350855-123986893)x0	SH2D1A, TENM1	Copy number loss	not provided	GPathogenic
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 1313738	NM_002351.5(SH2D1A):c.225A>G (p.Arg75=)	SH2D1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1289059	NM_002351.5(SH2D1A):c.202-83C>A	SH2D1A	Single nucleotide variant (intron variant)	not provided	GBenign
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 1278483	NM_002351.5(SH2D1A):c.201+317T>G	SH2D1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251845	NM_002351.5(SH2D1A):c.137+276_137+277del	SH2D1A	Deletion (intron variant)	not provided	GBenign
Select item 1242343	NM_002351.5(SH2D1A):c.201+277_201+278insAAAG	SH2D1A	Insertion (intron variant)	not provided	GBenign
Select item 1226206	NM_002351.5(SH2D1A):c.346+114A>G	SH2D1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215929	NM_002351.5(SH2D1A):c.137+157T>C	SH2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1208336	NM_002351.5(SH2D1A):c.137+190G>A	SH2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +818 more	Copy number loss	not provided	GPathogenic
Select item 1169457	NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser)	SH2D1A (A3S)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +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 1013078	NM_002351.5(SH2D1A):c.62T>G (p.Leu21Arg)	SH2D1A (L21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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