4193[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 1164285	NC_000012.12:g.68808017C>G	MDM2, LOC130008276	Single nucleotide variant	Accelerated tumor formation, susceptibility to	GBenign
Select item 1164286	NM_002392.6(MDM2):c.-94A>G	MDM2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1423262	NM_002392.6(MDM2):c.14+3A>G	LOC126861563, MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2056831	NM_002392.6(MDM2):c.14+5T>G	LOC126861563, MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 695297	NM_002392.6(MDM2):c.14+55C>T	LOC126861563, MDM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1168231	NM_002392.6(MDM2):c.14+285G>C	LOC126861563, MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GBenign
Select item 13904	NM_002392.6(MDM2):c.14+309T>G	LOC126861563, MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to +1 more	GBenign
Select item 1644981	NM_002392.6(MDM2):c.15-9dup	LOC126861563, MDM2	Duplication (intron variant)	Accelerated tumor formation, susceptibility to	GBenign
Select item 1670037	NM_002392.6(MDM2):c.15-9del	MDM2, LOC126861563	Deletion (intron variant)	Accelerated tumor formation, susceptibility to	GBenign
Select item 2908949	NM_002392.6(MDM2):c.15-11T>C	MDM2, LOC126861563	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1377454	NM_002392.6(MDM2):c.15-2A>G	LOC126861563, MDM2	Single nucleotide variant (splice acceptor variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 856511	NM_002392.6(MDM2):c.44C>T (p.Pro15Leu)	LOC126861563, MDM2 (P9L +1 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1511133	NM_002392.6(MDM2):c.46A>G (p.Thr16Ala)	LOC126861563, MDM2 (T10A +1 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2905053	NM_002392.6(MDM2):c.50A>G (p.Asp17Gly)	LOC126861563, MDM2 (D17G +1 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2835232	NM_002392.6(MDM2):c.56C>T (p.Ala19Val)	LOC126861563, MDM2 (A13V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1348381	NM_002392.6(MDM2):c.57_59del (p.Val20del)	LOC126861563, MDM2 (V14del +1 more)	Deletion (inframe_deletion)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1359480	NM_002392.6(MDM2):c.85G>A (p.Glu29Lys)	LOC126861563, MDM2 (E23K +1 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2134944	NM_002392.6(MDM2):c.88C>A (p.Gln30Lys)	LOC126861563, MDM2 (Q30K +1 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1358762	NM_002392.6(MDM2):c.91G>C (p.Glu31Gln)	LOC126861563, MDM2 (E25Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1637178	NM_002392.6(MDM2):c.99+7_99+14del	LOC126861563, MDM2	Deletion (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2155387	NM_002392.6(MDM2):c.99+8T>C	LOC126861563, MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1982251	NM_002392.6(MDM2):c.99+12del	LOC126861563, MDM2	Deletion (intron variant)	Accelerated tumor formation, susceptibility to	GBenign
Select item 1553638	NM_002392.6(MDM2):c.99+13del	LOC126861563, MDM2	Deletion (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1982252	NM_002392.6(MDM2):c.99+14T>G	LOC126861563, MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2176080	NM_002392.6(MDM2):c.99+17C>T	LOC126861563, MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 472748	NM_002392.6(MDM2):c.100-10C>A	MDM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2979968	NM_002392.6(MDM2):c.100-5T>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1407040	NM_002392.6(MDM2):c.154G>C (p.Asp52His)	MDM2 (D46H +1 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2733057	NM_002392.6(MDM2):c.156C>T (p.Asp52=)	MDM2	Single nucleotide variant (synonymous variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1584716	NM_002392.6(MDM2):c.162T>C (p.Tyr54=)	MDM2	Single nucleotide variant (synonymous variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1924439	NM_002392.6(MDM2):c.174+18A>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2845861	NM_002392.6(MDM2):c.175-18A>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2041198	NM_002392.6(MDM2):c.175-15A>T	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1551851	NM_002392.6(MDM2):c.175-13A>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1152939	NM_002392.6(MDM2):c.175-7A>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2907543	NM_002392.6(MDM2):c.178C>G (p.Leu60Val)	MDM2 (L54V +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1384380	NM_002392.6(MDM2):c.185A>T (p.Tyr62Phe)	MDM2 (Y56F +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1501438	NM_002392.6(MDM2):c.212G>A (p.Arg71Gln)	MDM2 (R65Q +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1416821	NM_002392.6(MDM2):c.226A>C (p.Lys76Gln)	MDM2 (K70Q +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2163429	NM_002392.6(MDM2):c.234A>G (p.Gln78=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1631003	NM_002392.6(MDM2):c.243A>G (p.Val81=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1086738	NM_002392.6(MDM2):c.264A>G (p.Leu88=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2851580	NM_002392.6(MDM2):c.279C>T (p.Gly93=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2123088	NM_002392.6(MDM2):c.305A>G (p.His102Arg)	MDM2 (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2849234	NM_002392.6(MDM2):c.309-5A>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1570222	NM_002392.6(MDM2):c.309-5A>C	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 971609	NM_002392.6(MDM2):c.309G>A (p.Arg103=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1046432	NM_002392.6(MDM2):c.350A>G (p.Asn117Ser)	MDM2 (N117S +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to +1 more	GUncertain significance
Select item 1597128	NM_002392.6(MDM2):c.359-15T>C	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2052780	NM_002392.6(MDM2):c.359-8TC[2]	MDM2	Microsatellite (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2037810	NM_002392.6(MDM2):c.359-4T>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1431908	NM_002392.6(MDM2):c.365C>T (p.Ser122Leu)	MDM2 (S116L +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1139277	NM_002392.6(MDM2):c.366G>A (p.Ser122=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2075508	NM_002392.6(MDM2):c.372A>G (p.Ser124=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2720273	NM_002392.6(MDM2):c.377C>T (p.Thr126Ile)	MDM2 (T120I +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2088438	NM_002392.6(MDM2):c.385A>C (p.Ser129Arg)	MDM2 (S129R +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1916784	NM_002392.6(MDM2):c.393C>T (p.Asn131=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1938361	NM_002392.6(MDM2):c.398G>A (p.Cys133Tyr)	MDM2 (C133Y +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2047388	NM_002392.6(MDM2):c.403C>T (p.Leu135Phe)	MDM2 (L129F +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2179863	NM_002392.6(MDM2):c.421C>G (p.Gln141Glu)	MDM2 (Q141E +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2165333	NM_002392.6(MDM2):c.431T>C (p.Leu144Pro)	MDM2 (L144P +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 2909970	NM_002392.6(MDM2):c.443T>C (p.Leu148Pro)	MDM2 (L142P +1 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1154571	NM_002392.6(MDM2):c.447G>A (p.Gln149=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1108186	NM_002392.6(MDM2):c.450A>G (p.Glu150=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1386125	NM_002392.6(MDM2):c.523+5A>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2842827	NM_002392.6(MDM2):c.524-18T>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1570835	NM_002392.6(MDM2):c.524-8A>G	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 698923	NM_002392.6(MDM2):c.524-3C>T	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2842828	NM_002392.6(MDM2):c.524-2A>G	MDM2	Single nucleotide variant (splice acceptor variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1482898	NM_002392.6(MDM2):c.536A>G (p.Asp179Gly)	MDM2 (D179G +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1025823	NM_002392.6(MDM2):c.560G>C (p.Arg187Thr)	MDM2 (R132T +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 539972	NM_002392.6(MDM2):c.565C>T (p.Arg189Cys)	MDM2 (R189C +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2847356	NM_002392.6(MDM2):c.582T>A (p.Ser194Arg)	MDM2 (S188R +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1000905	NM_002392.6(MDM2):c.583A>G (p.Ile195Val)	MDM2 (I140V +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1930017	NM_002392.6(MDM2):c.589C>T (p.Leu197Phe)	MDM2 (L191F +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 472749	NM_002392.6(MDM2):c.607C>T (p.Leu203=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2164923	NM_002392.6(MDM2):c.613C>G (p.Leu205Val)	MDM2 (L199V +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2168876	NM_002392.6(MDM2):c.615G>C (p.Leu205=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 472750	NM_002392.6(MDM2):c.631A>C (p.Ile211Leu)	MDM2 (I211L +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to +1 more	GUncertain significance
Select item 2067239	NM_002392.6(MDM2):c.643A>G (p.Arg215Gly)	MDM2 (R160G +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 3017156	NM_002392.6(MDM2):c.652A>G (p.Ser218Gly)	MDM2 (S163G +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2789656	NM_002392.6(MDM2):c.672G>A (p.Thr224=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 851326	NM_002392.6(MDM2):c.683C>T (p.Pro228Leu)	MDM2 (P173L +2 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 2141608	NM_002392.6(MDM2):c.684+19G>A	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1917952	NM_002392.6(MDM2):c.684+20T>C	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2717686	NM_002392.6(MDM2):c.685-20A>T	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2717687	NM_002392.6(MDM2):c.685-18A>T	MDM2	Single nucleotide variant (intron variant)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2989658	NM_002392.6(MDM2):c.685-3del	MDM2	Deletion (intron variant)	Accelerated tumor formation, susceptibility to	GBenign
Select item 2181570	NM_002392.6(MDM2):c.694G>T (p.Ala232Ser)	MDM2 (A177S +3 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1371263	NM_002392.6(MDM2):c.698_700del (p.Gly233del)	MDM2 (G233del +3 more)	Deletion (inframe_deletion +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1141905	NM_002392.6(MDM2):c.724T>C (p.Leu242=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1120599	NM_002392.6(MDM2):c.777T>C (p.Ser259=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2776101	NM_002392.6(MDM2):c.783C>T (p.Asp261=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2707346	NM_002392.6(MDM2):c.792T>C (p.Asp264=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 2859179	NM_002392.6(MDM2):c.815A>G (p.Gln272Arg)	MDM2 (Q217R +3 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance
Select item 1596961	NM_002392.6(MDM2):c.816A>G (p.Gln272=)	MDM2	Single nucleotide variant (synonymous variant +1 more)	Accelerated tumor formation, susceptibility to	GLikely benign
Select item 1504296	NM_002392.6(MDM2):c.818A>C (p.Glu273Ala)	MDM2 (E267A +3 more)	Single nucleotide variant (missense variant +1 more)	Accelerated tumor formation, susceptibility to	GUncertain significance

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