ClinVar for Gene (Select 10617) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323070	NM_213622.4(STAMBP):c.104G>A (p.Arg35Gln)	LOC126806253, STAMBP (R35Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3323069	NM_213622.4(STAMBP):c.833G>T (p.Gly278Val)	STAMBP (G278V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3323068	NM_213622.4(STAMBP):c.1121C>G (p.Thr374Ser)	STAMBP (T239S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3323067	NM_213622.4(STAMBP):c.784C>T (p.Arg262Trp)	STAMBP (R127W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170915	NM_213622.4(STAMBP):c.942G>T (p.Glu314Asp)	STAMBP (E179D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170914	NM_213622.4(STAMBP):c.830G>A (p.Arg277Gln)	STAMBP (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170913	NM_213622.4(STAMBP):c.763C>T (p.Arg255Cys)	STAMBP (R255C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170911	NM_213622.4(STAMBP):c.670A>G (p.Thr224Ala)	STAMBP (T89A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3170910	NM_213622.4(STAMBP):c.584C>T (p.Pro195Leu)	STAMBP (P195L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170909	NM_213622.4(STAMBP):c.583C>T (p.Pro195Ser)	STAMBP (P195S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170908	NM_213622.4(STAMBP):c.362A>G (p.Tyr121Cys)	STAMBP (Y121C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3068194	NM_213622.4(STAMBP):c.113G>A (p.Arg38His)	LOC126806253, STAMBP (R38H)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3017904	NM_213622.4(STAMBP):c.735A>G (p.Ser245=)	STAMBP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3017240	NM_213622.4(STAMBP):c.1218+10T>C	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015239	NM_213622.4(STAMBP):c.280-10T>C	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985839	NM_213622.4(STAMBP):c.1041C>T (p.Val347=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915765	NM_213622.4(STAMBP):c.963C>T (p.Leu321=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901329	NM_213622.4(STAMBP):c.318G>C (p.Leu106=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2895049	NM_213622.4(STAMBP):c.207C>T (p.Leu69=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2868747	NM_213622.4(STAMBP):c.398C>T (p.Ala133Val)	STAMBP (A133V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2826557	NM_213622.4(STAMBP):c.203+12A>G	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807797	NM_213622.4(STAMBP):c.690A>G (p.Pro230=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2798543	NM_213622.4(STAMBP):c.375+7A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787464	NM_213622.4(STAMBP):c.203+8A>T	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711373	NM_213622.4(STAMBP):c.1119-17C>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690758	NM_213622.4(STAMBP):c.1006-2A>T	STAMBP	Single nucleotide variant (splice acceptor variant)	Microcephaly-capillary malformation syndrome	GLikely pathogenic
Select item 2690164	NM_213622.4(STAMBP):c.767A>T (p.His256Leu)	STAMBP (H121L +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 2690163	NM_213622.4(STAMBP):c.1011C>T (p.His337=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 2671751	NM_213622.4(STAMBP):c.824C>G (p.Thr275Ser)	STAMBP (T140S +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 2651031	NM_213622.4(STAMBP):c.1218+394A>G	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651030	NM_213622.4(STAMBP):c.348A>G (p.Lys116=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2637512	NM_213622.4(STAMBP):c.5_6dup (p.Asp3fs)	LOC126806253, STAMBP (D3fs)	Duplication (frameshift variant +3 more)	Microcephaly-capillary malformation syndrome	GPathogenic
Select item 2589115	NM_213622.4(STAMBP):c.256C>A (p.Pro86Thr)	STAMBP (P86T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2576825	NM_213622.4(STAMBP):c.32C>T (p.Pro11Leu)	LOC126806253, STAMBP (P11L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2571984	NM_213622.4(STAMBP):c.692C>G (p.Pro231Arg)	STAMBP (P231R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2551716	NM_213622.4(STAMBP):c.658G>A (p.Asp220Asn)	STAMBP (D85N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549054	NM_213622.4(STAMBP):c.673G>T (p.Val225Leu)	STAMBP (V90L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526692	NM_213622.4(STAMBP):c.470T>G (p.Leu157Trp)	STAMBP (L157W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2488165	NM_213622.4(STAMBP):c.190A>G (p.Asn64Asp)	LOC126806253, STAMBP (N64D)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2487486	NM_213622.4(STAMBP):c.1241T>C (p.Val414Ala)	STAMBP (V414A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425598	NC_000002.11:g.(?_74087159)_(74087298_?)del	STAMBP	Deletion	not provided	GPathogenic
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2352109	NM_213622.4(STAMBP):c.301C>T (p.Pro101Ser)	STAMBP (P101S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2336139	NM_213622.4(STAMBP):c.409G>A (p.Ala137Thr)	STAMBP (A2T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323634	NM_213622.4(STAMBP):c.1271G>C (p.Arg424Pro)	STAMBP (R424P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296320	NM_213622.4(STAMBP):c.702C>G (p.Asp234Glu)	STAMBP (D234E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2198812	NM_213622.4(STAMBP):c.186C>G (p.Leu62=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2189868	NM_213622.4(STAMBP):c.406A>G (p.Met136Val)	STAMBP (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2183831	NM_213622.4(STAMBP):c.212T>C (p.Ile71Thr)	STAMBP (I71T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2182406	NM_213622.4(STAMBP):c.945C>G (p.Asn315Lys)	STAMBP (N180K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178951	NM_213622.4(STAMBP):c.771G>T (p.Val257=)	STAMBP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2175326	NM_213622.4(STAMBP):c.257C>T (p.Pro86Leu)	STAMBP (P86L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2173425	NM_213622.4(STAMBP):c.597C>T (p.Asp199=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2169007	NM_213622.4(STAMBP):c.1118+9A>C	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167484	NM_213622.4(STAMBP):c.401G>A (p.Arg134Gln)	STAMBP (R134Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2126440	NM_213622.4(STAMBP):c.1119-5T>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2122849	NM_213622.4(STAMBP):c.666C>T (p.His222=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2122600	NM_213622.4(STAMBP):c.243A>C (p.Lys81Asn)	STAMBP (K81N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2122219	NM_213622.4(STAMBP):c.234A>C (p.Arg78=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2114975	NM_213622.4(STAMBP):c.1124G>T (p.Gly375Val)	STAMBP (G375V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2089373	NM_213622.4(STAMBP):c.743-3C>T	STAMBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2074046	NM_213622.4(STAMBP):c.814A>G (p.Ser272Gly)	STAMBP (S272G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2071603	NM_213622.4(STAMBP):c.1180G>A (p.Gly394Arg)	STAMBP (G259R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069879	NM_213622.4(STAMBP):c.443G>A (p.Arg148Lys)	STAMBP (R13K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068409	NM_213622.4(STAMBP):c.1254G>A (p.Val418=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2068279	NM_213622.4(STAMBP):c.804C>T (p.Leu268=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2066917	NM_213622.4(STAMBP):c.1105C>T (p.Pro369Ser)	STAMBP (P234S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2046847	NM_213622.4(STAMBP):c.424C>G (p.Leu142Val)	STAMBP (L142V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2028025	NM_213622.4(STAMBP):c.487dup (p.His163fs)	STAMBP (H163fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2020273	NM_213622.4(STAMBP):c.321G>A (p.Lys107=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2018644	NM_213622.4(STAMBP):c.742+9A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015834	NM_213622.4(STAMBP):c.653C>G (p.Pro218Arg)	STAMBP (P218R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997989	NM_213622.4(STAMBP):c.522A>G (p.Leu174=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1992771	NM_213622.4(STAMBP):c.868-1G>A	STAMBP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1990849	NM_213622.4(STAMBP):c.867+19C>A	STAMBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1984317	NM_213622.4(STAMBP):c.768T>C (p.His256=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981850	NM_213622.4(STAMBP):c.981C>T (p.Gly327=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1974707	NM_213622.4(STAMBP):c.487C>T (p.His163Tyr)	STAMBP (H163Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970739	NM_213622.4(STAMBP):c.204-5C>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965144	NM_213622.4(STAMBP):c.795A>G (p.Pro265=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1956089	NM_213622.4(STAMBP):c.207C>G (p.Leu69=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1950585	NM_213622.4(STAMBP):c.67A>G (p.Ser23Gly)	LOC126806253, STAMBP (S23G)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1946139	NM_213622.4(STAMBP):c.376-3T>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1938682	NM_213622.4(STAMBP):c.1231G>A (p.Val411Met)	STAMBP (V411M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1938372	NM_213622.4(STAMBP):c.1219-7A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936077	NM_213622.4(STAMBP):c.34G>A (p.Glu12Lys)	LOC126806253, STAMBP (E12K)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1923637	NM_213622.4(STAMBP):c.1218+15A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923015	NM_213622.4(STAMBP):c.1005+17T>A	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918035	NM_213622.4(STAMBP):c.508C>T (p.Arg170Trp)	STAMBP (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1910057	NM_213622.4(STAMBP):c.1023C>T (p.Thr341=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1908796	NM_213622.4(STAMBP):c.829C>T (p.Arg277Trp)	STAMBP (R142W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1907040	NM_213622.4(STAMBP):c.1057T>C (p.Cys353Arg)	STAMBP (C353R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902984	NM_213622.4(STAMBP):c.1118+19G>A	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902281	NM_213622.4(STAMBP):c.1119-18G>A	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901983	NM_213622.4(STAMBP):c.557G>A (p.Gly186Glu)	STAMBP (G51E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1901811	NM_213622.4(STAMBP):c.279+18T>C	STAMBP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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