"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "STAMBP" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1509503	NM_213622.4(STAMBP):c.12T>A (p.His4Gln)	LOC126806253, STAMBP (H4Q)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 160044	NM_213622.4(STAMBP):c.12T>C (p.His4=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GBenign
Select item 1367249	NM_213622.4(STAMBP):c.14G>A (p.Gly5Glu)	LOC126806253, STAMBP (G5E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1412908	NM_213622.4(STAMBP):c.29C>T (p.Pro10Leu)	LOC126806253, STAMBP (P10L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 715248	NM_213622.4(STAMBP):c.33C>T (p.Pro11=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	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 1398534	NM_213622.4(STAMBP):c.41G>A (p.Arg14Gln)	LOC126806253, STAMBP (R14Q)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1360305	NM_213622.4(STAMBP):c.49G>C (p.Ala17Pro)	LOC126806253, STAMBP (A17P)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1469518	NM_213622.4(STAMBP):c.59A>G (p.Gln20Arg)	LOC126806253, STAMBP (Q20R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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 1409709	NM_213622.4(STAMBP):c.71C>T (p.Ala24Val)	LOC126806253, STAMBP (A24V)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1558282	NM_213622.4(STAMBP):c.72G>A (p.Ala24=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1719223	NM_213622.4(STAMBP):c.83A>G (p.Asn28Ser)	LOC126806253, STAMBP (N28S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1472454	NM_213622.4(STAMBP):c.87A>C (p.Glu29Asp)	LOC126806253, STAMBP (E29D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1351413	NM_213622.4(STAMBP):c.100C>T (p.Arg34Cys)	LOC126806253, STAMBP (R34C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1333643	NM_213622.4(STAMBP):c.112C>G (p.Arg38Gly)	LOC126806253, STAMBP (R38G)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 50793	NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)	LOC126806253, STAMBP (R38C)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1671599	NM_213622.4(STAMBP):c.171A>G (p.Glu57=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 711304	NM_213622.4(STAMBP):c.183C>T (p.Ile61=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 1298814	NM_213622.4(STAMBP):c.188A>G (p.Tyr63Cys)	LOC126806253, STAMBP (Y63C)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1493517	NM_213622.4(STAMBP):c.197A>T (p.Tyr66Phe)	LOC126806253, STAMBP (Y66F)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1364920	NM_213622.4(STAMBP):c.203+5G>A	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2787464	NM_213622.4(STAMBP):c.203+8A>T	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826557	NM_213622.4(STAMBP):c.203+12A>G	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970739	NM_213622.4(STAMBP):c.204-5C>G	STAMBP	Single nucleotide variant (intron variant)	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 1956089	NM_213622.4(STAMBP):c.207C>G (p.Leu69=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1034281	NM_213622.4(STAMBP):c.218A>G (p.Lys73Arg)	STAMBP (K73R)	Single nucleotide variant (missense variant +2 more)	Microcephaly-capillary malformation syndrome +1 more	GConflicting classifications of pathogenicity
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 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 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 1901811	NM_213622.4(STAMBP):c.279+18T>C	STAMBP	Single nucleotide variant (5 prime UTR variant +1 more)	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 2901329	NM_213622.4(STAMBP):c.318G>C (p.Leu106=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1451758	NM_213622.4(STAMBP):c.337C>T (p.Arg113Ter)	STAMBP (R113*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2798543	NM_213622.4(STAMBP):c.375+7A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564825	NM_213622.4(STAMBP):c.375+9A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674398	NM_213622.4(STAMBP):c.375+12A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630252	NM_213622.4(STAMBP):c.376-13T>C	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723819	NM_213622.4(STAMBP):c.376-4G>A	STAMBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1946139	NM_213622.4(STAMBP):c.376-3T>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1439399	NM_213622.4(STAMBP):c.400C>T (p.Arg134Trp)	STAMBP (R134W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 837152	NM_213622.4(STAMBP):c.418C>T (p.Gln140Ter)	STAMBP (Q140* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
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 2069879	NM_213622.4(STAMBP):c.443G>A (p.Arg148Lys)	STAMBP (R13K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1513047	NM_213622.4(STAMBP):c.457A>G (p.Lys153Glu)	STAMBP (K153E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 722352	NM_213622.4(STAMBP):c.465G>T (p.Gln155His)	STAMBP (Q20H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 160045	NM_213622.4(STAMBP):c.499G>A (p.Glu167Lys)	STAMBP (E167K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1487139	NM_213622.4(STAMBP):c.509G>A (p.Arg170Gln)	STAMBP (R35Q +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 50792	NM_213622.4(STAMBP):c.532C>T (p.Arg178Ter)	STAMBP (R178* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
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 +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 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 2122849	NM_213622.4(STAMBP):c.666C>T (p.His222=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	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 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 2018644	NM_213622.4(STAMBP):c.742+9A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089373	NM_213622.4(STAMBP):c.743-3C>T	STAMBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 436880	NM_213622.4(STAMBP):c.764G>A (p.Arg255His)	STAMBP (R255H +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome +2 more	GConflicting classifications of pathogenicity
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 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 791857	NM_213622.4(STAMBP):c.785G>A (p.Arg262Gln)	STAMBP (R127Q +1 more)	Single nucleotide variant (missense variant +1 more)	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 2068279	NM_213622.4(STAMBP):c.804C>T (p.Leu268=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1274549	NM_213622.4(STAMBP):c.867+18dup	STAMBP	Duplication (intron variant)	not provided	GBenign
Select item 1573624	NM_213622.4(STAMBP):c.867+9A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639099	NM_213622.4(STAMBP):c.867+16A>T	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990849	NM_213622.4(STAMBP):c.867+19C>A	STAMBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1992771	NM_213622.4(STAMBP):c.868-1G>A	STAMBP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 727041	NM_213622.4(STAMBP):c.891C>T (p.Thr297=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1390004	NM_213622.4(STAMBP):c.899T>C (p.Leu300Pro)	STAMBP (L300P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 160046	NM_213622.4(STAMBP):c.921G>T (p.Gly307=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 1554126	NM_213622.4(STAMBP):c.945C>T (p.Asn315=)	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 1981850	NM_213622.4(STAMBP):c.981C>T (p.Gly327=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748815	NM_213622.4(STAMBP):c.1005T>C (p.His335=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	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 1910057	NM_213622.4(STAMBP):c.1023C>T (p.Thr341=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	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 1467635	NM_213622.4(STAMBP):c.1052C>G (p.Thr351Ser)	STAMBP (T216S +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 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 1510564	NM_213622.4(STAMBP):c.1110G>T (p.Lys370Asn)	STAMBP (K235N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1481318	NM_213622.4(STAMBP):c.1110G>C (p.Lys370Asn)	STAMBP (K370N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2169007	NM_213622.4(STAMBP):c.1118+9A>C	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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