SH3BP2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 874

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 154242	GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1	ADD1, CFAP99 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 1239506	NM_001122681.2(SH3BP2):c.-4-8193A>G	LOC106804089, SH3BP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2387323	NM_001122681.2(SH3BP2):c.-4-8168C>T	LOC106804089, SH3BP2 (R17W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058905	NM_001122681.2(SH3BP2):c.-4-8148C>T	LOC106804089, SH3BP2	Single nucleotide variant (synonymous variant +1 more)	SH3BP2-related disorder	GLikely benign
Select item 3161253	NM_001122681.2(SH3BP2):c.-4-8138A>G	LOC106804089, SH3BP2 (S27G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236050	NM_001122681.2(SH3BP2):c.-4-2381T>G	LOC129992069, SH3BP2 (S4A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550353	NM_001122681.2(SH3BP2):c.-4-2378G>C	LOC129992069, SH3BP2 (G5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359293	NM_001122681.2(SH3BP2):c.-4-2360T>G	SH3BP2 (W11G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3044612	NM_001122681.2(SH3BP2):c.-4-2344C>T	SH3BP2 (A16V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469387	NM_001122681.2(SH3BP2):c.-4-2333G>T	SH3BP2 (D20Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364750	NM_001122681.2(SH3BP2):c.-4-2315G>A	SH3BP2 (G26R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161254	NM_001122681.2(SH3BP2):c.-4-2302C>T	SH3BP2 (P30L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1226123	NM_001122681.2(SH3BP2):c.-4-2172C>G	SH3BP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264442	NM_001122681.2(SH3BP2):c.-4-2080G>A	LOC129992070, SH3BP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 348559	NM_001122681.2(SH3BP2):c.-4-1781G>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GBenign
Select item 348560	NM_001122681.2(SH3BP2):c.-4-1780A>C	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GBenign
Select item 348561	NM_001122681.2(SH3BP2):c.-4-1638C>T	SH3BP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 348562	NM_001122681.2(SH3BP2):c.-4-1590C>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 1222999	NM_001122681.2(SH3BP2):c.-4-179G>A	SH3BP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256910	NM_001122681.2(SH3BP2):c.-4-52C>A	SH3BP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1243817	NM_001122681.2(SH3BP2):c.-4-34T>C	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw +1 more	GBenign
Select item 2414440	NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val)	SH3BP2 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	Fibrous dysplasia of jaw	GUncertain significance
Select item 751413	NM_001122681.2(SH3BP2):c.6G>A (p.Ala2=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 1717232	NM_001122681.2(SH3BP2):c.8C>T (p.Ala3Val)	SH3BP2 (A31V +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2378969	NM_001122681.2(SH3BP2):c.13G>A (p.Glu5Lys)	SH3BP2 (E33K +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 842519	NM_001122681.2(SH3BP2):c.15G>C (p.Glu5Asp)	SH3BP2 (E33D +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 658097	NM_001122681.2(SH3BP2):c.17del (p.Met6fs)	SH3BP2 (M34fs +2 more)	Deletion (frameshift variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2853906	NM_001122681.2(SH3BP2):c.24G>C (p.Trp8Cys)	SH3BP2 (W36C +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 1370004	NM_001122681.2(SH3BP2):c.32C>T (p.Pro11Leu)	SH3BP2 (P39L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 525202	NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val)	SH3BP2 (M12V +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GConflicting classifications of pathogenicity
Select item 2911930	NM_001122681.2(SH3BP2):c.39G>A (p.Lys13=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 795195	NM_001122681.2(SH3BP2):c.42C>T (p.Ala14=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 1421592	NM_001122681.2(SH3BP2):c.44T>C (p.Ile15Thr)	SH3BP2 (I43T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2632392	NM_001122681.2(SH3BP2):c.49G>A (p.Ala17Thr)	SH3BP2 (A17T +2 more)	Single nucleotide variant (missense variant)	SH3BP2-related disorder	GUncertain significance
Select item 2632689	NM_001122681.2(SH3BP2):c.59T>A (p.Leu20Gln)	SH3BP2 (L20Q +2 more)	Single nucleotide variant (missense variant)	SH3BP2-related disorder	GUncertain significance
Select item 2173605	NM_001122681.2(SH3BP2):c.67A>T (p.Met23Leu)	SH3BP2 (M51L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 863529	NM_001122681.2(SH3BP2):c.71C>G (p.Pro24Arg)	SH3BP2 (P24R +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 902810	NM_001122681.2(SH3BP2):c.78C>T (p.Gly26=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 348563	NM_001122681.2(SH3BP2):c.79G>A (p.Val27Met)	SH3BP2 (V27M +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 750479	NM_001122681.2(SH3BP2):c.81G>A (p.Val27=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 348564	NM_001122681.2(SH3BP2):c.81G>T (p.Val27=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 734509	NM_001122681.2(SH3BP2):c.96C>T (p.Tyr32=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 348565	NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GBenign/Likely benign
Select item 2152775	NM_001122681.2(SH3BP2):c.112G>C (p.Gly38Arg)	SH3BP2 (G38R +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance

<< First< Prev

Page of 9