SH2B1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 765122	NM_001387430.1(SH2B1):c.51G>C (p.Pro17=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder +1 more	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 +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 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)	SH2B1-related disorder +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 disorder +1 more	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 726489	NM_001387430.1(SH2B1):c.72T>G (p.Pro24=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 +1 more	GUncertain significance
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 2889595	NM_001387430.1(SH2B1):c.111G>T (p.Ala37=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 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 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 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 2636049	NM_001387430.1(SH2B1):c.167C>T (p.Ala56Val)	SH2B1 (A56V)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 3035001	NM_001387430.1(SH2B1):c.180C>T (p.Ala60=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
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 3049187	NM_001387430.1(SH2B1):c.200G>A (p.Arg67His)	SH2B1 (R67H)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 726665	NM_001387430.1(SH2B1):c.207T>C (p.Ala69=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	SH2B1-related disorder +1 more	GLikely benign
Select item 3032846	NM_001387430.1(SH2B1):c.233C>T (p.Ala78Val)	SH2B1 (A78V)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 736125	NM_001387430.1(SH2B1):c.234C>T (p.Ala78=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder +1 more	GLikely benign
Select item 2632010	NM_001387430.1(SH2B1):c.244C>T (p.Arg82Trp)	SH2B1 (R82W)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 756255	NM_001387430.1(SH2B1):c.244C>A (p.Arg82=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder +1 more	GLikely benign
Select item 2544168	NM_001387430.1(SH2B1):c.259C>G (p.Leu87Val)	SH2B1 (L87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 disorder +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 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 2055158	NM_001387430.1(SH2B1):c.296C>T (p.Ala99Val)	SH2B1 (A99V)	Single nucleotide variant (missense variant +1 more)	not specified +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 3161119	NM_001387430.1(SH2B1):c.323T>C (p.Leu108Pro)	SH2B1 (L108P)	Single nucleotide variant (missense variant +1 more)	not specified	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 2230860	NM_001387430.1(SH2B1):c.371G>T (p.Arg124Leu)	SH2B1 (R124L)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 3029133	NM_001387430.1(SH2B1):c.390C>T (p.Ala130=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
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 2636033	NM_001387430.1(SH2B1):c.422C>T (p.Ser141Phe)	SH2B1 (S141F)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
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)	not provided +1 more	GUncertain significance
Select item 2323393	NM_001387430.1(SH2B1):c.454C>T (p.Arg152Cys)	SH2B1 (R152C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048904	NM_001387430.1(SH2B1):c.463C>T (p.Leu155=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 3051048	NM_001387430.1(SH2B1):c.467G>A (p.Arg156His)	SH2B1 (R156H)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	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 3048336	NM_001387430.1(SH2B1):c.488G>A (p.Arg163Gln)	SH2B1 (R163Q)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	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 2248479	NM_001387430.1(SH2B1):c.512A>G (p.Gln171Arg)	SH2B1 (Q171R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1338248	NM_001387430.1(SH2B1):c.524C>A (p.Thr175Asn)	SH2B1 (T175N)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder +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 3161120	NM_001387430.1(SH2B1):c.568G>T (p.Gly190Cys)	SH2B1 (G190C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2689960	NM_001387430.1(SH2B1):c.587G>T (p.Gly196Val)	SH2B1 (G196V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 808024	NM_001387430.1(SH2B1):c.612C>T (p.Gly204=)	SH2B1	Single nucleotide variant (synonymous 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 3042331	NM_001387430.1(SH2B1):c.624C>T (p.Thr208=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 795943	NM_001387430.1(SH2B1):c.654G>A (p.Thr218=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder +1 more	GLikely benign
Select item 3054499	NM_001387430.1(SH2B1):c.657C>T (p.Ser219=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder	GLikely benign
Select item 3036947	NM_001387430.1(SH2B1):c.679C>T (p.Arg227Cys)	SH2B1 (R227C)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
Select item 2612066	NM_001387430.1(SH2B1):c.680G>A (p.Arg227His)	SH2B1 (R227H)	Single nucleotide variant (missense variant +1 more)	not specified	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 748804	NM_001387430.1(SH2B1):c.705G>A (p.Arg235=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3015304	NM_001387430.1(SH2B1):c.714C>T (p.Gly238=)	SH2B1	Single nucleotide variant (synonymous variant +1 more)	SH2B1-related disorder +1 more	GLikely benign
Select item 3161121	NM_001387430.1(SH2B1):c.715G>A (p.Ala239Thr)	SH2B1 (A239T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2628914	NM_001387430.1(SH2B1):c.715G>T (p.Ala239Ser)	SH2B1 (A239S)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
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 2664975	NM_001387430.1(SH2B1):c.737_749del (p.Met246fs)	SH2B1 (M246fs)	Deletion (frameshift variant +1 more)	SH2B1-associated disorder	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 2084677	NM_001387430.1(SH2B1):c.787C>A (p.Pro263Thr)	SH2B1 (P263T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2340237	NM_001387430.1(SH2B1):c.791A>T (p.Asp264Val)	SH2B1 (D264V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2634409	NM_001387430.1(SH2B1):c.799G>A (p.Gly267Arg)	SH2B1 (G267R)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	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 1408351	NM_001387430.1(SH2B1):c.808C>T (p.Arg270Trp)	SH2B1 (R270W)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2429078	NM_001387430.1(SH2B1):c.809G>A (p.Arg270Gln)	SH2B1 (R270Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2259080	NM_001387430.1(SH2B1):c.823G>T (p.Ala275Ser)	SH2B1 (A275S)	Single nucleotide variant (missense variant +1 more)	not specified	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 2508761	NM_001387430.1(SH2B1):c.848G>A (p.Gly283Glu)	SH2B1 (G283E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063849	NM_001387430.1(SH2B1):c.872G>A (p.Arg291His)	SH2B1 (R291H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631736	NM_001387430.1(SH2B1):c.877C>G (p.Leu293Val)	SH2B1 (L293V)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance
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 2636084	NM_001387430.1(SH2B1):c.976A>G (p.Ile326Val)	SH2B1 (I326V)	Single nucleotide variant (missense variant +1 more)	SH2B1-related disorder	GUncertain significance

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