SH2B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
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 153260	GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3	APOBR, ATP2A1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 148782	GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1	ATP2A1, APOBR +70 more	Copy number loss	See cases	GPathogenic
Select item 545197	NC_000016.10:g.(?_28351819)_(29325073_?)del	APOBR, ATP2A1 +68 more	Deletion	Schizophrenia	GPathogenic
Select item 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	LOC125146439, LOC125146440 +179 more	Copy number gain	See cases	GPathogenic
Select item 150351	GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 152023	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1	APOBR, ATP2A1 +61 more	Copy number loss	See cases	GPathogenic
Select item 151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	ALDOA, APOBR +187 more	Copy number loss	See cases	GPathogenic
Select item 150642	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1	APOBR, ATP2A1 +66 more	Copy number loss	See cases	GPathogenic
Select item 148886	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1	APOBR, ATP2A1 +67 more	Copy number loss	See cases	GPathogenic
Select item 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 more	Copy number loss	See cases	GPathogenic
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 148497	GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 154502	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3	APOBR, ATP2A1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	ALDOA, APOBR +171 more	Copy number gain	See cases	GPathogenic
Select item 146471	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1	LOC130058739, LOC130058740 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 146463	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3	APOBR, ATP2A1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 34150	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	ALDOA, APOBR +171 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 59641	GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1	ATP2A1, ATP2A1-AS1 +48 more	Copy number loss	See cases	GPathogenic
Select item 145658	GRCh38/hg38 16p11.2(chr16:28584316-29019738)x3	ATP2A1, ATP2A1-AS1 +44 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160911	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59293	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
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 1679691	Single allele	LAT, LOC112340393 +44 more	Deletion	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 155233	GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 153218	GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 59643	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1	ATP2A1, ATP2A1-AS1 +36 more	Copy number loss	See cases	GPathogenic
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 148525	GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 155463	GRCh38/hg38 16p11.2(chr16:28807707-29039870)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 151536	GRCh38/hg38 16p11.2(chr16:28809422-29033455)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1184309	NC_000016.10:g.28812342_29035950dup	LOC130058735, ATP2A1 +34 more	Duplication	not provided	GUncertain significance
Select item 149412	GRCh38/hg38 16p11.2(chr16:28813473-29033455)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 149239	GRCh38/hg38 16p11.2(chr16:28813473-29032639)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 148483	GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1	ATP2A1, ATP2A1-AS1 +36 more	Copy number loss	See cases	GLikely pathogenic
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 1326293	GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3	NFATC2IP-AS1, RABEP2 +36 more	Copy number gain	not provided	Gnot provided
Select item 583588	NC_000016.10:g.(?_28824392)_(28904205_?)del	ATP2A1, ATP2A1-AS1 +13 more	Deletion	Brody myopathy	GPathogenic
Select item 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 59644	GRCh38/hg38 16p11.2(chr16:28826129-29030797)x1	ATP2A1, ATP2A1-AS1 +33 more	Copy number loss	See cases	GPathogenic
Select item 149864	GRCh38/hg38 16p11.2(chr16:28832433-29019750)x1	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 149863	GRCh38/hg38 16p11.2(chr16:28832433-29019750)x3	ATP2A1, ATP2A1-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59684	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x1	ATP2A1, ATP2A1-AS1 +31 more	Copy number loss	See cases	GPathogenic
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 148434	GRCh38/hg38 16p11.2(chr16:28850210-29032639)x1	ATP2A1, ATP2A1-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 32783	GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1	ATP2A1, ATP2A1-AS1 +28 more	Copy number loss	See cases	GPathogenic
Select item 150196	GRCh38/hg38 16p11.2(chr16:28850245-29019750)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3044497	NM_001387430.1(SH2B1):c.-792G>A	SH2B1	Single nucleotide variant (5 prime UTR variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 2618120	NM_001387430.1(SH2B1):c.11C>T (p.Ala4Val)	SH2B1 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3348564	NM_001387430.1(SH2B1):c.16T>C (p.Ser6Pro)	SH2B1 (S6P)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 3352802	NM_001387430.1(SH2B1):c.38C>T (p.Pro13Leu)	SH2B1 (P13L)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 3035168	NM_001387430.1(SH2B1):c.39C>T (p.Pro13=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 3353583	NM_001387430.1(SH2B1):c.41C>T (p.Ser14Leu)	SH2B1 (S14L)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 3032923	NM_001387430.1(SH2B1):c.42G>A (p.Ser14=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 3350252	NM_001387430.1(SH2B1):c.46C>T (p.Pro16Ser)	SH2B1 (P16S)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 3357719	NM_001387430.1(SH2B1):c.50C>A (p.Pro17Gln)	SH2B1 (P17Q)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 3351386	NM_001387430.1(SH2B1):c.51G>A (p.Pro17=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 765122	NM_001387430.1(SH2B1):c.51G>C (p.Pro17=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3054033	NM_001387430.1(SH2B1):c.54G>A (p.Leu18=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 791647	NM_001387430.1(SH2B1):c.60A>C (p.Pro20=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2075708	NM_001387430.1(SH2B1):c.61C>T (p.Pro21Ser)	SH2B1 (P21S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3054971	NM_001387430.1(SH2B1):c.63C>T (p.Pro21=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 2346095	NM_001387430.1(SH2B1):c.65C>A (p.Pro22Gln)	SH2B1 (P22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2721116	NM_001387430.1(SH2B1):c.66G>A (p.Pro22=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 765123	NM_001387430.1(SH2B1):c.66G>C (p.Pro22=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3035853	NM_001387430.1(SH2B1):c.69C>A (p.Pro23=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 3351989	NM_001387430.1(SH2B1):c.72T>A (p.Pro24=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 726489	NM_001387430.1(SH2B1):c.72T>G (p.Pro24=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618724	NM_001387430.1(SH2B1):c.73A>T (p.Ser25Cys)	SH2B1 (S25C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2706149	NM_001387430.1(SH2B1):c.79C>T (p.Arg27Trp)	SH2B1 (R27W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2463556	NM_001387430.1(SH2B1):c.80G>A (p.Arg27Gln)	SH2B1 (R27Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3353538	NM_001387430.1(SH2B1):c.93G>C (p.Glu31Asp)	SH2B1 (E31D)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 3356732	NM_001387430.1(SH2B1):c.96C>T (p.Ser32=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 3046103	NM_001387430.1(SH2B1):c.99C>T (p.His33=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 2407069	NM_001387430.1(SH2B1):c.109G>A (p.Ala37Thr)	SH2B1 (A37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3358428	NM_001387430.1(SH2B1):c.110C>T (p.Ala37Val)	SH2B1 (A37V)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 2889595	NM_001387430.1(SH2B1):c.111G>T (p.Ala37=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3351813	NM_001387430.1(SH2B1):c.123T>C (p.Phe41=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 3055730	NM_001387430.1(SH2B1):c.127C>T (p.Arg43Cys)	SH2B1 (R43C)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 2982919	NM_001387430.1(SH2B1):c.127C>A (p.Arg43Ser)	SH2B1 (R43S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3354058	NM_001387430.1(SH2B1):c.130C>T (p.Arg44Cys)	SH2B1 (R44C)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 2257785	NM_001387430.1(SH2B1):c.137G>A (p.Arg46His)	SH2B1 (R46H)	Single nucleotide variant (missense variant +1 more)	not specified	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 3357387	NM_001387430.1(SH2B1):c.144C>T (p.Tyr48=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 2634203	NM_001387430.1(SH2B1):c.146T>A (p.Leu49Gln)	SH2B1 (L49Q)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 2634393	NM_001387430.1(SH2B1):c.154C>T (p.His52Tyr)	SH2B1 (H52Y)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 3358787	NM_001387430.1(SH2B1):c.156C>T (p.His52=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 2636049	NM_001387430.1(SH2B1):c.167C>T (p.Ala56Val)	SH2B1 (A56V)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance

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