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

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583588	NC_000016.10:g.(?_28824392)_(28904205_?)del	ATP2A1, ATP2A1-AS1 +13 more	Deletion	Brody myopathy	GPathogenic
Select item 765122	NM_001387430.1(SH2B1):c.51G>C (p.Pro17=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
Select item 791647	NM_001387430.1(SH2B1):c.60A>C (p.Pro20=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GBenign/Likely benign
Select item 2075708	NM_001387430.1(SH2B1):c.61C>T (p.Pro21Ser)	SH2B1 (P21S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2721116	NM_001387430.1(SH2B1):c.66G>A (p.Pro22=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
Select item 765123	NM_001387430.1(SH2B1):c.66G>C (p.Pro22=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
Select item 726489	NM_001387430.1(SH2B1):c.72T>G (p.Pro24=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
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 2889595	NM_001387430.1(SH2B1):c.111G>T (p.Ala37=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
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 726665	NM_001387430.1(SH2B1):c.207T>C (p.Ala69=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
Select item 720873	NM_001387430.1(SH2B1):c.216C>T (p.Phe72=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739423	NM_001387430.1(SH2B1):c.222G>A (p.Gln74=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 736125	NM_001387430.1(SH2B1):c.234C>T (p.Ala78=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 756255	NM_001387430.1(SH2B1):c.244C>A (p.Arg82=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 757356	NM_001387430.1(SH2B1):c.264G>A (p.Ser88=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1989675	NM_001387430.1(SH2B1):c.285G>C (p.Leu95=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2055158	NM_001387430.1(SH2B1):c.296C>T (p.Ala99Val)	SH2B1 (A99V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1396616	NM_001387430.1(SH2B1):c.316C>G (p.Leu106Val)	SH2B1 (L106V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2919598	NM_001387430.1(SH2B1):c.353C>T (p.Ala118Val)	SH2B1 (A118V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1969523	NM_001387430.1(SH2B1):c.362G>A (p.Gly121Asp)	SH2B1 (G121D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2124996	NM_001387430.1(SH2B1):c.371G>C (p.Arg124Pro)	SH2B1 (R124P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2726106	NM_001387430.1(SH2B1):c.375A>G (p.Ser125=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 742532	NM_001387430.1(SH2B1):c.429C>T (p.Thr143=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 724019	NM_001387430.1(SH2B1):c.432C>T (p.Ser144=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1475750	NM_001387430.1(SH2B1):c.449A>G (p.Lys150Arg)	SH2B1 (K150R)	Single nucleotide variant (missense variant +1 more)	SH2B1-related condition +1 more	GUncertain significance
Select item 1918102	NM_001387430.1(SH2B1):c.500G>A (p.Arg167His)	SH2B1 (R167H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1338248	NM_001387430.1(SH2B1):c.524C>A (p.Thr175Asn)	SH2B1 (T175N)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1899206	NM_001387430.1(SH2B1):c.563C>T (p.Ser188Leu)	SH2B1 (S188L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1443414	NM_001387430.1(SH2B1):c.613G>A (p.Gly205Arg)	SH2B1 (G205R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 795943	NM_001387430.1(SH2B1):c.654G>A (p.Thr218=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 748804	NM_001387430.1(SH2B1):c.705G>A (p.Arg235=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015304	NM_001387430.1(SH2B1):c.714C>T (p.Gly238=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
Select item 3016719	NM_001387430.1(SH2B1):c.730G>T (p.Ala244Ser)	SH2B1 (A244S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084677	NM_001387430.1(SH2B1):c.787C>A (p.Pro263Thr)	SH2B1 (P263T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1408351	NM_001387430.1(SH2B1):c.808C>T (p.Arg270Trp)	SH2B1 (R270W)	Single nucleotide variant (missense variant +1 more)	SH2B1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 721668	NM_001387430.1(SH2B1):c.906A>G (p.Gly302=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527882	NM_001387430.1(SH2B1):c.952C>T (p.Arg318Ter)	SH2B1 (R318*)	Single nucleotide variant (nonsense +1 more)	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2131151	NM_001387430.1(SH2B1):c.967T>C (p.Cys323Arg)	SH2B1 (C323R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1971237	NM_001387430.1(SH2B1):c.1011G>T (p.Met337Ile)	SH2B1 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2628482	NM_001387430.1(SH2B1):c.1028C>T (p.Thr343Met)	SH2B1 (T343M +1 more)	Single nucleotide variant (missense variant)	SH2B1-related condition +1 more	GUncertain significance
Select item 2414131	NM_001387430.1(SH2B1):c.1029G>A (p.Thr343=)	SH2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956695	NM_001387430.1(SH2B1):c.1042-19C>T	SH2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740277	NM_001387430.1(SH2B1):c.1077G>A (p.Val359=)	SH2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937249	NM_001387430.1(SH2B1):c.1215C>A (p.Asp405Glu)	SH2B1 (D69E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050916	NM_001387430.1(SH2B1):c.1229C>T (p.Ser410Phe)	SH2B1 (S74F +1 more)	Single nucleotide variant (missense variant)	SH2B1-related condition +1 more	GLikely benign
Select item 2742678	NM_001387430.1(SH2B1):c.1256C>G (p.Pro419Arg)	SH2B1 (P419R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2470393	NM_001387430.1(SH2B1):c.1307A>G (p.Gln436Arg)	SH2B1 (Q100R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2981030	NM_001387430.1(SH2B1):c.1310-5del	SH2B1	Deletion (intron variant)	SH2B1-related condition +1 more	GBenign/Likely benign
Select item 1987972	NM_001387430.1(SH2B1):c.1375G>A (p.Ala459Thr)	SH2B1 (A459T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731250	NM_001387430.1(SH2B1):c.1394T>C (p.Met465Thr)	SH2B1 (M465T +1 more)	Single nucleotide variant (missense variant)	SH2B1-related condition +1 more	GLikely benign
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 1610865	NM_001387430.1(SH2B1):c.1513+5C>T	SH2B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 757395	NM_001387430.1(SH2B1):c.1514-4G>T	SH2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2160184	NM_001387430.1(SH2B1):c.1546G>A (p.Gly516Ser)	SH2B1 (G516S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730016	NM_001387430.1(SH2B1):c.1683G>A (p.Arg561=)	SH2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756043	NM_001387430.1(SH2B1):c.1707C>T (p.Asn569=)	SH2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763019	NM_001387430.1(SH2B1):c.1725+1G>A	SH2B1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1594692	NM_001387430.1(SH2B1):c.1726-14C>T	SH2B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2794155	NM_001387430.1(SH2B1):c.1746C>T (p.Asn582=)	SH2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736638	NM_001387430.1(SH2B1):c.1776G>T (p.Leu592=)	SH2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532475	NM_001387430.1(SH2B1):c.1803C>T (p.Leu601=)	SH2B1	Single nucleotide variant (synonymous variant)	SH2B1-related condition +1 more	GLikely benign
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 798893	NM_001387430.1(SH2B1):c.1898-253C>T	SH2B1 (A641V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 745822	NM_001387430.1(SH2B1):c.1898-252G>A	SH2B1 (R659Q)	Single nucleotide variant (synonymous variant +2 more)	SH2B1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 730268	NM_001387430.1(SH2B1):c.1898-207C>T	SH2B1 (P674L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1635170	NM_001387430.1(SH2B1):c.1898-13C>T	SH2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771198	NM_001387430.1(SH2B1):c.1898-5T>C	SH2B1	Single nucleotide variant (intron variant)	SH2B1-related condition +1 more	GBenign
Select item 2787481	NM_001387430.1(SH2B1):c.1915G>A (p.Asp639Asn)	SH2B1 (D639N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2955666	NM_001387430.1(SH2B1):c.1920A>G (p.Pro640=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728133	NM_001387430.1(SH2B1):c.1926G>A (p.Gln642=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2725649	NM_001387430.1(SH2B1):c.1931C>T (p.Pro644Leu)	SH2B1 (P644L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 737201	NM_001387430.1(SH2B1):c.1944A>G (p.Ser648=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 724777	NM_001387430.1(SH2B1):c.1980G>A (p.Ala660=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 779278	NM_001387430.1(SH2B1):c.1988C>T (p.Ala663Val)	SH2B1 (A663V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 740533	NM_001387430.1(SH2B1):c.1989G>A (p.Ala663=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2185368	NM_001387430.1(SH2B1):c.2000C>T (p.Ala667Val)	SH2B1 (A667V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2736420	NM_001387430.1(SH2B1):c.2049G>A (p.Ala683=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2721048	NM_001387430.1(SH2B1):c.2091G>A (p.Glu697=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
Select item 1600459	NM_001387430.1(SH2B1):c.2100C>T (p.Pro700=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2782600	NM_001387430.1(SH2B1):c.2149G>A (p.Ala717Thr)	SH2B1 (A717T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1583869	NM_001387430.1(SH2B1):c.2166C>T (p.Asp722=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related condition +1 more	GLikely benign
Select item 2959278	NM_001387430.1(SH2B1):c.2173G>A (p.Val725Met)	SH2B1 (V725M)	Single nucleotide variant (missense variant +1 more)	SH2B1-related condition +1 more	GUncertain significance
Select item 777000	NM_001387430.1(SH2B1):c.2187G>T (p.Val729=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2846419	NM_001387430.1(SH2B1):c.2222A>G (p.Glu741Gly)	SH2B1 (E741G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 724928	NM_001387430.1(SH2B1):c.2238C>G (p.Pro746=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 741577	NM_001387430.1(SH2B1):c.2262C>T (p.Ser754=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2423886	NC_000016.9:g.(?_27441393)_(28899063_?)del	APOBR, ATP2A1 +18 more	Deletion	not provided	GUncertain significance
Select item 2423570	NC_000016.9:g.(?_27441393)_(29001333_?)del	APOBR, ATP2A1 +23 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 1373701	NC_000016.9:g.(?_28835713)_(28917080_?)dup	ATP2A1, ATXN2L +3 more	Duplication	not provided	GUncertain significance
Select item 1073956	NC_000016.9:g.(?_28488827)_(28950294_?)del	ATXN2L, APOBR +12 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic

ClinVar

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Items: 92