"GeneDx"[submitter] AND "SH2D1A"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 145170	GRCh38/hg38 Xq25(chrX:123859097-128717147)x3	ACTRT1, DCAF12L1 +19 more	Copy number gain	See cases	GPathogenic
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 367866	NC_000023.11:g.124346297C>T	SH2D1A	Single nucleotide variant	X-linked lymphoproliferative disease due to SH2D1A deficiency +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 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 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 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 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 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 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 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 1313738	NM_002351.5(SH2D1A):c.225A>G (p.Arg75=)	SH2D1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1226206	NM_002351.5(SH2D1A):c.346+114A>G	SH2D1A	Single nucleotide variant (intron variant)	not provided	GBenign
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 367875	NM_002351.5(SH2D1A):c.*203del	SH2D1A	Deletion (3 prime UTR variant)	Lymphoproliferative disorder +1 more	GBenign
Select item 367876	NM_002351.5(SH2D1A):c.*212G>A	SH2D1A	Single nucleotide variant (3 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 40