166929[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 148998	GRCh38/hg38 4q25(chr4:107201546-107840495)x3	LOC102725220, LOC123477799 +7 more	Copy number gain	See cases	GLikely benign
Select item 2762799	NM_001375905.1(SGMS2):c.1A>G (p.Met1Val)	CYP2U1-AS1, SGMS2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2027791	NM_001375905.1(SGMS2):c.11T>C (p.Ile4Thr)	CYP2U1-AS1, SGMS2 (I4T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2844759	NM_001375905.1(SGMS2):c.17C>T (p.Thr6Ile)	CYP2U1-AS1, SGMS2 (T6I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973913	NM_001375905.1(SGMS2):c.19G>C (p.Ala7Pro)	CYP2U1-AS1, SGMS2 (A7P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1491911	NM_001375905.1(SGMS2):c.20C>A (p.Ala7Glu)	CYP2U1-AS1, SGMS2 (A7E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3317936	NM_001375905.1(SGMS2):c.30A>C (p.Glu10Asp)	CYP2U1-AS1, SGMS2 (E10D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161038	NM_001375905.1(SGMS2):c.50C>T (p.Pro17Leu)	CYP2U1-AS1, SGMS2 (P17L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216387	NM_001375905.1(SGMS2):c.53G>A (p.Ser18Asn)	CYP2U1-AS1, SGMS2 (S18N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1601075	NM_001375905.1(SGMS2):c.62C>T (p.Thr21Met)	CYP2U1-AS1, SGMS2 (T21M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2043981	NM_001375905.1(SGMS2):c.63G>A (p.Thr21=)	SGMS2, CYP2U1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175714	NM_001375905.1(SGMS2):c.69T>G (p.Thr23=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2900263	NM_001375905.1(SGMS2):c.81C>T (p.Pro27=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870372	NM_001375905.1(SGMS2):c.82G>A (p.Ala28Thr)	CYP2U1-AS1, SGMS2 (A28T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976424	NM_001375905.1(SGMS2):c.116A>G (p.Asn39Ser)	CYP2U1-AS1, SGMS2 (N39S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1449494	NM_001375905.1(SGMS2):c.119G>A (p.Gly40Asp)	CYP2U1-AS1, SGMS2 (G40D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2803675	NM_001375905.1(SGMS2):c.123A>G (p.Lys41=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 635285	NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter)	CYP2U1-AS1, SGMS2 (R50*)	Single nucleotide variant (nonsense +1 more)	Calvarial doughnut lesions-bone fragility syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2064971	NM_001375905.1(SGMS2):c.149G>A (p.Arg50Gln)	SGMS2, CYP2U1-AS1 (R50Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2779806	NM_001375905.1(SGMS2):c.158C>A (p.Thr53Asn)	CYP2U1-AS1, SGMS2 (T53N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892538	NM_001375905.1(SGMS2):c.159C>T (p.Thr53=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040721	NM_001375905.1(SGMS2):c.161A>G (p.Lys54Arg)	CYP2U1-AS1, SGMS2 (K54R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1224412	NM_001375905.1(SGMS2):c.167A>T (p.Tyr56Phe)	CYP2U1-AS1, SGMS2 (Y56F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2398970	NM_001375905.1(SGMS2):c.170C>T (p.Pro57Leu)	CYP2U1-AS1, SGMS2 (P57L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2800074	NM_001375905.1(SGMS2):c.171G>C (p.Pro57=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1595949	NM_001375905.1(SGMS2):c.171G>A (p.Pro57=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	Calvarial doughnut lesions-bone fragility syndrome +1 more	GBenign/Likely benign
Select item 2803443	NM_001375905.1(SGMS2):c.172G>C (p.Asp58His)	CYP2U1-AS1, SGMS2 (D58H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 635286	NM_001375905.1(SGMS2):c.185T>G (p.Ile62Ser)	CYP2U1-AS1, SGMS2 (I62S)	Single nucleotide variant (missense variant +1 more)	Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia	GPathogenic
Select item 635287	NM_001375905.1(SGMS2):c.191T>G (p.Met64Arg)	CYP2U1-AS1, SGMS2 (M64R)	Single nucleotide variant (missense variant +1 more)	Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia	GPathogenic
Select item 2788325	NM_001375905.1(SGMS2):c.232A>G (p.Lys78Glu)	CYP2U1-AS1, SGMS2 (K78E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2206013	NM_001375905.1(SGMS2):c.256G>A (p.Ala86Thr)	CYP2U1-AS1, SGMS2 (A86T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2870243	NM_001375905.1(SGMS2):c.270C>T (p.Leu90=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2633304	NM_001375905.1(SGMS2):c.271G>T (p.Val91Phe)	CYP2U1-AS1, SGMS2 (V91F)	Single nucleotide variant (missense variant +1 more)	SGMS2-related disorder	GUncertain significance
Select item 1565957	NM_001375905.1(SGMS2):c.271G>A (p.Val91Ile)	CYP2U1-AS1, SGMS2 (V91I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2039443	NM_001375905.1(SGMS2):c.282C>T (p.Thr94=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056005	NM_001375905.1(SGMS2):c.283G>A (p.Val95Ile)	CYP2U1-AS1, SGMS2 (V95I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077601	NM_001375905.1(SGMS2):c.285C>T (p.Val95=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3161037	NM_001375905.1(SGMS2):c.316C>T (p.Pro106Ser)	CYP2U1-AS1, SGMS2 (P106S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3021202	NM_001375905.1(SGMS2):c.344A>G (p.Asp115Gly)	CYP2U1-AS1, SGMS2 (D115G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895152	NM_001375905.1(SGMS2):c.361A>G (p.Ile121Val)	CYP2U1-AS1, SGMS2 (I121V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2082554	NM_001375905.1(SGMS2):c.405G>A (p.Gly135=)	SGMS2, CYP2U1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1974528	NM_001375905.1(SGMS2):c.411A>G (p.Ile137Met)	CYP2U1-AS1, SGMS2 (I137M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419887	NM_001375905.1(SGMS2):c.423A>G (p.Leu141=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899607	NM_001375905.1(SGMS2):c.441del (p.Phe148_Leu149insTer)	CYP2U1-AS1, SGMS2	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2708783	NM_001375905.1(SGMS2):c.455+12T>C	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558438	NM_001375905.1(SGMS2):c.455+14A>C	SGMS2, CYP2U1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2768281	NM_001375905.1(SGMS2):c.456-19T>A	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732118	NM_001375905.1(SGMS2):c.465G>A (p.Val155=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2271891	NM_001375905.1(SGMS2):c.470G>A (p.Arg157His)	CYP2U1-AS1, SGMS2 (R157H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2154668	NM_001375905.1(SGMS2):c.508C>T (p.Arg170Cys)	CYP2U1-AS1, SGMS2 (R170C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868107	NM_001375905.1(SGMS2):c.514A>G (p.Ile172Val)	CYP2U1-AS1, SGMS2 (I172V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899832	NM_001375905.1(SGMS2):c.543G>T (p.Val181=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873590	NM_001375905.1(SGMS2):c.555T>C (p.His185=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953527	NM_001375905.1(SGMS2):c.558C>T (p.Phe186=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820482	NM_001375905.1(SGMS2):c.573G>T (p.Lys191Asn)	CYP2U1-AS1, SGMS2 (K18N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620656	NM_001375905.1(SGMS2):c.573+7A>G	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265776	NM_001375905.1(SGMS2):c.574-150G>A	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269239	NM_001375905.1(SGMS2):c.574-60G>C	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2136654	NM_001375905.1(SGMS2):c.574-8T>A	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2123315	NM_001375905.1(SGMS2):c.579T>C (p.Asn193=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873763	NM_001375905.1(SGMS2):c.581G>A (p.Gly194Glu)	CYP2U1-AS1, SGMS2 (G194E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132102	NM_001375905.1(SGMS2):c.598G>C (p.Val200Leu)	CYP2U1-AS1, SGMS2 (V200L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779249	NM_001375905.1(SGMS2):c.605G>A (p.Arg202Gln)	CYP2U1-AS1, SGMS2 (R29Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369010	NM_001375905.1(SGMS2):c.613C>T (p.Arg205Ter)	CYP2U1-AS1, SGMS2 (R205* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2879002	NM_001375905.1(SGMS2):c.637T>C (p.Ser213Pro)	CYP2U1-AS1, SGMS2 (S213P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412781	NM_001375905.1(SGMS2):c.641T>C (p.Ile214Thr)	CYP2U1-AS1, SGMS2 (I214T +1 more)	Single nucleotide variant (missense variant)	Calvarial doughnut lesions-bone fragility syndrome	GUncertain significance
Select item 2794335	NM_001375905.1(SGMS2):c.644C>G (p.Thr215Ser)	CYP2U1-AS1, SGMS2 (T42S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964217	NM_001375905.1(SGMS2):c.658T>A (p.Leu220Ile)	CYP2U1-AS1, SGMS2 (L47I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3317937	NM_001375905.1(SGMS2):c.676T>C (p.Phe226Leu)	CYP2U1-AS1, SGMS2 (F226L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2794295	NM_001375905.1(SGMS2):c.682G>A (p.Gly228Ser)	CYP2U1-AS1, SGMS2 (G55S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546394	NM_001375905.1(SGMS2):c.683G>A (p.Gly228Asp)	CYP2U1-AS1, SGMS2 (G228D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2753894	NM_001375905.1(SGMS2):c.687C>T (p.His229=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902835	NM_001375905.1(SGMS2):c.690G>A (p.Thr230=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139818	NM_001375905.1(SGMS2):c.695C>T (p.Thr232Met)	SGMS2, CYP2U1-AS1 (T59M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 776009	NM_001375905.1(SGMS2):c.696G>A (p.Thr232=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2023578	NM_001375905.1(SGMS2):c.702A>G (p.Thr234=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171606	NM_001375905.1(SGMS2):c.714_715insAT (p.Phe239fs)	CYP2U1-AS1, SGMS2 (F66fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2066140	NM_001375905.1(SGMS2):c.721A>G (p.Lys241Glu)	CYP2U1-AS1, SGMS2 (K241E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975400	NM_001375905.1(SGMS2):c.727+12C>T	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971666	NM_001375905.1(SGMS2):c.727+19C>T	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247035	NM_001375905.1(SGMS2):c.727+113G>A	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242245	NM_001375905.1(SGMS2):c.727+125A>G	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262045	NM_001375905.1(SGMS2):c.728-205C>T	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2898169	NM_001375905.1(SGMS2):c.728-9A>G	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2198251	NM_001375905.1(SGMS2):c.731C>T (p.Ser244Leu)	CYP2U1-AS1, SGMS2 (S71L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2041666	NM_001375905.1(SGMS2):c.732G>A (p.Ser244=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421768	NM_001375905.1(SGMS2):c.737G>A (p.Arg246His)	CYP2U1-AS1, SGMS2 (R246H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2056603	NM_001375905.1(SGMS2):c.741C>T (p.His247=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873193	NM_001375905.1(SGMS2):c.742T>C (p.Phe248Leu)	CYP2U1-AS1, SGMS2 (F75L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2755347	NM_001375905.1(SGMS2):c.778G>A (p.Ala260Thr)	CYP2U1-AS1, SGMS2 (A260T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2050938	NM_001375905.1(SGMS2):c.783C>T (p.Ala261=)	SGMS2, CYP2U1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3161039	NM_001375905.1(SGMS2):c.784G>A (p.Gly262Arg)	CYP2U1-AS1, SGMS2 (G89R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2878585	NM_001375905.1(SGMS2):c.810C>T (p.His270=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848359	NM_001375905.1(SGMS2):c.811G>A (p.Glu271Lys)	CYP2U1-AS1, SGMS2 (E98K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2622544	NM_001375905.1(SGMS2):c.811G>C (p.Glu271Gln)	CYP2U1-AS1, SGMS2 (E271Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2184887	NM_001375905.1(SGMS2):c.825C>T (p.Ile275=)	CYP2U1-AS1, SGMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2050526	NM_001375905.1(SGMS2):c.833T>A (p.Ile278Asn)	CYP2U1-AS1, SGMS2 (I105N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364707	NM_001375905.1(SGMS2):c.856C>T (p.Arg286Ter)	CYP2U1-AS1, SGMS2 (R113* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

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