"GeneDx"[submitter] AND "SH2B1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 59294	GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3	ATP2A1, ATP2A1-AS1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59295	GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3	ATP2A1, ATP2A1-AS1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59642	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3	ATP2A1, ATP2A1-AS1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 145955	GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3	ATP2A1, ATP2A1-AS1 +34 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59296	GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 59683	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3	ATP2A1, ATP2A1-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1306406	NM_001387430.1(SH2B1):c.121_130dup (p.Arg44fs)	SH2B1 (R44fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2580601	NM_001387430.1(SH2B1):c.142dup (p.Tyr48fs)	SH2B1 (Y48fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1804321	NM_001387430.1(SH2B1):c.197_198del (p.Arg66fs)	SH2B1 (R66fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 727734	NM_001387430.1(SH2B1):c.269C>A (p.Pro90His)	SH2B1 (P90H)	Single nucleotide variant (missense variant +1 more)	SH2B1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1803525	NM_001387430.1(SH2B1):c.293G>A (p.Gly98Asp)	SH2B1 (G98D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700828	NM_001387430.1(SH2B1):c.388G>A (p.Ala130Thr)	SH2B1 (A130T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503236	NM_001387430.1(SH2B1):c.416C>T (p.Ser139Phe)	SH2B1 (S139F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306099	NM_001387430.1(SH2B1):c.478C>T (p.Arg160Cys)	SH2B1 (R160C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695639	NM_001387430.1(SH2B1):c.680G>C (p.Arg227Pro)	SH2B1 (R227P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576794	NM_001387430.1(SH2B1):c.712G>T (p.Gly238Cys)	SH2B1 (G238C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804358	NM_001387430.1(SH2B1):c.751G>C (p.Glu251Gln)	SH2B1 (E251Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504869	NM_001387430.1(SH2B1):c.806G>T (p.Gly269Val)	SH2B1 (G269V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313153	NM_001387430.1(SH2B1):c.835T>C (p.Ser279Pro)	SH2B1 (S279P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309329	NM_001387430.1(SH2B1):c.1024A>G (p.Asn342Asp)	SH2B1 (N342D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703344	NM_001387430.1(SH2B1):c.1162A>T (p.Met388Leu)	SH2B1 (M388L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572669	NM_001387430.1(SH2B1):c.1205A>G (p.Glu402Gly)	SH2B1 (E402G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312678	NM_001387430.1(SH2B1):c.1214_1217del (p.Asp405fs)	SH2B1 (D405fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2248289	NM_001387430.1(SH2B1):c.1285G>A (p.Glu429Lys)	SH2B1 (E93K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1232867	NM_001387430.1(SH2B1):c.1450A>G (p.Thr484Ala)	SH2B1 (T148A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2574243	NM_001387430.1(SH2B1):c.1481A>G (p.Tyr494Cys)	SH2B1 (Y158C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505624	NM_001387430.1(SH2B1):c.1540G>C (p.Glu514Gln)	SH2B1 (E178Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702808	NM_001387430.1(SH2B1):c.1668G>C (p.Gln556His)	SH2B1 (Q220H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574481	NM_001387430.1(SH2B1):c.1726-1G>A	SH2B1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 929780	NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro)	SH2B1 (S280P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1810736	NM_001387430.1(SH2B1):c.2024_2027del (p.Lys675fs)	SH2B1 (K675fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2428784	NM_001387430.1(SH2B1):c.2073GCTGGTCCCCGTGGTTGA[4] (p.Leu704_Glu705insValProValValGluLeuValProValValGluLeu)	SH2B1	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 253631	GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1	ATXN2L, NFATC2IP +15 more	Copy number loss	See cases	GPathogenic
Select item 253467	GRCh37/hg19 16p11.2(chr16:28826162-29043960)x1	ATP2A1, CD19 +7 more	Copy number loss	See cases	GPathogenic

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Items: 40