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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 731244	NM_001206999.2(CIT):c.6189C>G (p.Val2063=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1264110	NM_001206999.2(CIT):c.6187-20CCT[3]	CIT	Microsatellite (intron variant)	not provided	GBenign
Select item 2857694	NM_001206999.2(CIT):c.6186+16G>A	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2033914	NM_001206999.2(CIT):c.6170T>C (p.Leu2057Pro)	CIT (L2015P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179790	NM_001206999.2(CIT):c.6157G>A (p.Val2053Met)	CIT (V2053M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 739463	NM_001206999.2(CIT):c.6156C>T (p.Ala2052=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713921	NM_001206999.2(CIT):c.6137G>T (p.Gly2046Val)	CIT (G2004V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713252	NM_001206999.2(CIT):c.6060A>G (p.Arg2020=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732552	NM_001206999.2(CIT):c.6051C>T (p.Pro2017=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254402	NM_001206999.2(CIT):c.5999G>A (p.Arg2000His)	CIT (R1958H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 786235	NM_001206999.2(CIT):c.5955G>T (p.Pro1985=)	CIT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2095884	NM_001206999.2(CIT):c.5883-19G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779611	NM_001206999.2(CIT):c.5868G>A (p.Pro1956=)	CIT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2161513	NM_001206999.2(CIT):c.5850T>G (p.Thr1950=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750345	NM_001206999.2(CIT):c.5832C>T (p.Leu1944=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2903600	NM_001206999.2(CIT):c.5829C>T (p.Asn1943=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774707	NM_001206999.2(CIT):c.5623+9G>A	CIT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1997805	NM_001206999.2(CIT):c.5581C>T (p.Arg1861Cys)	CIT (R1819C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716685	NM_001206999.2(CIT):c.5568C>T (p.Tyr1856=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879047	NM_001206999.2(CIT):c.5542+16G>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791323	NM_001206999.2(CIT):c.5506G>A (p.Ala1836Thr)	CIT (A1794T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 741523	NM_001206999.2(CIT):c.5505C>T (p.Ser1835=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744996	NM_001206999.2(CIT):c.5460C>T (p.Ala1820=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764793	NM_001206999.2(CIT):c.5414-4A>G	CIT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 592099	NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met)	CIT (T1802M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221769	NM_001206999.2(CIT):c.5367A>C (p.Gly1789=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746903	NM_001206999.2(CIT):c.5316C>A (p.Thr1772=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756202	NM_001206999.2(CIT):c.5274C>T (p.Asn1758=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040305	NM_001206999.2(CIT):c.5256C>T (p.Val1752=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321818	NM_001206999.2(CIT):c.5238A>C (p.Ala1746=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 756036	NM_001206999.2(CIT):c.5212-6T>C	CIT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1261439	NM_001206999.2(CIT):c.5208C>G (p.Gly1736=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1246883	NM_001206999.2(CIT):c.5169T>A (p.Ile1723=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782567	NM_001206999.2(CIT):c.5167A>G (p.Ile1723Val)	CIT (I1681V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727804	NM_001206999.2(CIT):c.5112G>A (p.Val1704=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735170	NM_001206999.2(CIT):c.5072-6G>T	CIT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2729387	NM_001206999.2(CIT):c.5071+7G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1702792	NM_001206999.2(CIT):c.4997C>A (p.Thr1666Asn)	CIT (T1624N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995853	NM_001206999.2(CIT):c.4936-18G>A	CIT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867583	NM_001206999.2(CIT):c.4936-19C>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2869312	NM_001206999.2(CIT):c.4935+20G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180915	NM_001206999.2(CIT):c.4935+19C>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1238529	NM_001206999.2(CIT):c.4917G>A (p.Thr1639=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1987050	NM_001206999.2(CIT):c.4914C>T (p.Cys1638=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643384	NM_001206999.2(CIT):c.4812C>T (p.Val1604=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971722	NM_001206999.2(CIT):c.4783C>A (p.Arg1595Ser)	CIT (R1553S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053905	NM_001206999.2(CIT):c.4745C>T (p.Thr1582Ile)	CIT (T1540I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044513	NM_001206999.2(CIT):c.4740G>C (p.Gly1580=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082586	NM_001206999.2(CIT):c.4718C>T (p.Pro1573Leu)	CIT (P1531L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972041	NM_001206999.2(CIT):c.4684+13C>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023402	NM_001206999.2(CIT):c.4684+10A>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775315	NM_001206999.2(CIT):c.4677C>T (p.Ala1559=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1978504	NM_001206999.2(CIT):c.4647C>T (p.Ala1549=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834174	NM_001206999.2(CIT):c.4579+14T>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750894	NM_001206999.2(CIT):c.4566T>C (p.Asn1522=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785576	NM_001206999.2(CIT):c.4530T>C (p.Ile1510=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869761	NM_001206999.2(CIT):c.4436C>T (p.Thr1479Ile)	CIT (T1479I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173062	NM_001206999.2(CIT):c.4405C>T (p.Arg1469Cys)	CIT (R1469C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2505847	NM_001206999.2(CIT):c.4397C>A (p.Ala1466Asp)	CIT (A1424D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752506	NM_001206999.2(CIT):c.4392C>T (p.Thr1464=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714243	NM_001206999.2(CIT):c.4385A>T (p.His1462Leu)	CIT (H1420L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797342	NM_001206999.2(CIT):c.4353C>T (p.Ala1451=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135193	NM_001206999.2(CIT):c.4307-9C>T	CIT, MIR1178	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 747320	NM_001206999.2(CIT):c.4275G>C (p.Val1425=)	CIT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2713440	NM_001206999.2(CIT):c.4272C>T (p.Thr1424=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716331	NM_001206999.2(CIT):c.4248A>G (p.Thr1416=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043752	NM_001206999.2(CIT):c.4246A>G (p.Thr1416Ala)	CIT (T1374A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 434770	NM_001206999.2(CIT):c.4224C>T (p.Asn1408=)	CIT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2414323	NM_001206999.2(CIT):c.4168+10A>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1713572	NM_001206999.2(CIT):c.4160C>T (p.Thr1387Ile)	CIT (T1345I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711908	NM_001206999.2(CIT):c.4158A>G (p.Ser1386=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560261	NM_001206999.2(CIT):c.4130C>T (p.Pro1377Leu)	CIT (P1377L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive +1 more	GUncertain significance
Select item 730601	NM_001206999.2(CIT):c.4115T>C (p.Met1372Thr)	CIT (M1330T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1212732	NM_001206999.2(CIT):c.4114A>G (p.Met1372Val)	CIT (M1330V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745871	NM_001206999.2(CIT):c.4088G>A (p.Arg1363Gln)	CIT (R1363Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 792911	NM_001206999.2(CIT):c.4083C>T (p.Ile1361=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1209741	NM_001206999.2(CIT):c.4077C>T (p.Ser1359=)	CIT	Single nucleotide variant (synonymous variant)	Microcephaly 17, primary, autosomal recessive +1 more	GBenign
Select item 721637	NM_001206999.2(CIT):c.4068C>T (p.Ile1356=)	CIT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 775316	NM_001206999.2(CIT):c.4056G>A (p.Ala1352=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709470	NM_001206999.2(CIT):c.4053C>T (p.Thr1351=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2179190	NM_001206999.2(CIT):c.4022C>T (p.Thr1341Met)	CIT (T1299M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521138	NM_001206999.2(CIT):c.4012C>T (p.Arg1338Cys)	CIT (R1338C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1976677	NM_001206999.2(CIT):c.4004-12del	CIT	Deletion (intron variant)	not provided	GLikely benign
Select item 2857696	NM_001206999.2(CIT):c.4003+19C>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1064084	NM_001206999.2(CIT):c.3902A>G (p.Asn1301Ser)	CIT (N1259S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2122698	NM_001206999.2(CIT):c.3883C>G (p.Gln1295Glu)	CIT (Q1295E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092586	NM_001206999.2(CIT):c.3857G>A (p.Arg1286Gln)	CIT (R1286Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005479	NM_001206999.2(CIT):c.3840+10A>C	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019293	NM_001206999.2(CIT):c.3689A>G (p.Lys1230Arg)	CIT (K1188R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719750	NM_001206999.2(CIT):c.3645G>A (p.Leu1215=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062815	NM_001206999.2(CIT):c.3591+7G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104919	NM_001206999.2(CIT):c.3532C>T (p.Arg1178Ter)	CIT (R1136* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 636240	NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser)	CIT (N1164S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1977600	NM_001206999.2(CIT):c.3486+18C>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207450	NM_001206999.2(CIT):c.3430G>A (p.Ala1144Thr)	CIT (A1102T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710453	NM_001206999.2(CIT):c.3429C>T (p.Leu1143=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1191008	NM_001206999.2(CIT):c.3372C>T (p.Ile1124=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715308	NM_001206999.2(CIT):c.3360C>T (p.Ala1120=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197558	NM_001206999.2(CIT):c.3350+3G>A	CIT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2181123	NM_001206999.2(CIT):c.3336C>T (p.Thr1112=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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