C1836860[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 3892

<< First< Prev

Page of 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 650694	NC_000017.10:g.(?_59760647)_(59938910_?)dup	BRIP1, LOC110120932 +1 more	Duplication	Familial cancer of breast +1 more	GUncertain significance
Select item 649056	NC_000017.11:g.(?_61683286)_(61693522_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 584139	NC_000017.10:g.(?_59760647)_(59761511_?)dup	BRIP1	Duplication	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 583952	NC_000017.11:g.(?_61683286)_(61716073_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 584054	NC_000017.10:g.(?_59760651)_(59938906_?)dup	BRIP1, LOC110120932 +1 more	Duplication	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 583468	NC_000017.11:g.(?_61683290)_(61684146_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 461165	NM_032043.3(BRIP1):c.3731_*5del (p.Met1244fs)	BRIP1	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2949337	NM_032043.3(BRIP1):c.3750A>G (p.Ter1250=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 530351	NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs)	BRIP1 (K1249fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1632874	NM_032043.3(BRIP1):c.3747G>A (p.Lys1249=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 841100	NM_032043.3(BRIP1):c.3744del (p.Phe1248fs)	BRIP1 (F1248fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 530295	NM_032043.3(BRIP1):c.3743T>G (p.Phe1248Cys)	BRIP1 (F1248C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 560879	NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu)	BRIP1 (F1248L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 461166	NM_032043.3(BRIP1):c.3741T>A (p.Gly1247=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1348090	NM_032043.3(BRIP1):c.3740G>A (p.Gly1247Asp)	BRIP1 (G1247D)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 824144	NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser)	BRIP1 (G1247S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 232920	NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)	BRIP1 (P1246L)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 1734413	NM_032043.3(BRIP1):c.3734T>G (p.Phe1245Cys)	BRIP1 (F1245C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 569454	NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile)	BRIP1 (M1244I)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 844618	NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys)	BRIP1 (M1244K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 407814	NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs)	BRIP1 (M1244fs)	Duplication (frameshift variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 182368	NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)	BRIP1 (M1244fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 824137	NM_032043.3(BRIP1):c.3730A>C (p.Met1244Leu)	BRIP1 (M1244L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2939023	NM_032043.3(BRIP1):c.3728G>C (p.Gly1243Ala)	BRIP1 (G1243A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 824132	NM_032043.3(BRIP1):c.3728G>T (p.Gly1243Val)	BRIP1 (G1243V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 407810	NM_032043.3(BRIP1):c.3728G>A (p.Gly1243Asp)	BRIP1 (G1243D)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 128190	NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)	BRIP1 (G1243C)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 2951849	NM_032043.3(BRIP1):c.3717C>G (p.Ser1239=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 1156969	NM_032043.3(BRIP1):c.3717C>A (p.Ser1239=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GBenign/Likely benign
Select item 232701	NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 141623	NM_032043.3(BRIP1):c.3715T>C (p.Ser1239Pro)	BRIP1 (S1239P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 824111	NM_032043.3(BRIP1):c.3712_3714del (p.Pro1238del)	BRIP1 (P1238del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 941346	NM_032043.3(BRIP1):c.3712C>A (p.Pro1238Thr)	BRIP1 (P1238T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 187678	NM_032043.3(BRIP1):c.3711T>C (p.Ser1237=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 506573	NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr)	BRIP1 (S1237Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 141529	NM_032043.3(BRIP1):c.3710C>T (p.Ser1237Phe)	BRIP1 (S1237F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 801133	NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu)	BRIP1 (P1236L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 407859	NM_032043.3(BRIP1):c.3706C>T (p.Pro1236Ser)	BRIP1 (P1236S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2099903	NM_032043.3(BRIP1):c.3705A>G (p.Lys1235=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 627791	NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu)	BRIP1 (K1235E)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 1734114	NM_032043.3(BRIP1):c.3702T>C (p.Phe1234=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 1055606	NM_032043.3(BRIP1):c.3702T>G (p.Phe1234Leu)	BRIP1 (F1234L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2065400	NM_032043.3(BRIP1):c.3701T>C (p.Phe1234Ser)	BRIP1 (F1234S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 133759	NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)	BRIP1 (F1234C)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 241659	NM_032043.3(BRIP1):c.3700T>C (p.Phe1234Leu)	BRIP1 (F1234L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2940241	NM_032043.3(BRIP1):c.3699C>T (p.Asn1233=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 407800	NM_032043.3(BRIP1):c.3699C>A (p.Asn1233Lys)	BRIP1 (N1233K)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 2954422	NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)	BRIP1 (N1233S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 1571508	NM_032043.3(BRIP1):c.3696G>A (p.Lys1232=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GBenign/Likely benign
Select item 461164	NM_032043.3(BRIP1):c.3695A>G (p.Lys1232Arg)	BRIP1 (K1232R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2121738	NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu)	BRIP1 (K1232E)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 483173	NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)	BRIP1 (I1231M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1014384	NM_032043.3(BRIP1):c.3692T>G (p.Ile1231Arg)	BRIP1 (I1231R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 461163	NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr)	BRIP1 (I1231T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 231673	NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)	BRIP1 (I1231V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2046168	NM_032043.3(BRIP1):c.3690A>G (p.Glu1230=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 665957	NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)	BRIP1 (I1229T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2949306	NM_032043.3(BRIP1):c.3685A>C (p.Ile1229Leu)	BRIP1 (I1229L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2131924	NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys)	BRIP1 (E1228K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 485449	NM_032043.3(BRIP1):c.3681T>C (p.His1227=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 1998139	NM_032043.3(BRIP1):c.3680A>T (p.His1227Leu)	BRIP1 (H1227L)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 421331	NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg)	BRIP1 (H1227R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1004910	NM_032043.3(BRIP1):c.3679C>G (p.His1227Asp)	BRIP1 (H1227D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 1383402	NM_032043.3(BRIP1):c.3676del (p.Thr1226fs)	BRIP1 (T1226fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 241658	NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro)	BRIP1 (T1226P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 2029057	NM_032043.3(BRIP1):c.3675A>G (p.Lys1225=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 1377728	NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr)	BRIP1 (K1225T)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1002502	NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs)	BRIP1 (L1223fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2939810	NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)	BRIP1 (G1224E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 630971	NM_032043.3(BRIP1):c.3669G>A (p.Leu1223=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 230913	NM_032043.3(BRIP1):c.3667C>T (p.Leu1223=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 640730	NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val)	BRIP1 (E1222V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 461162	NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)	BRIP1 (E1222fs)	Duplication (frameshift variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 1461310	NM_032043.3(BRIP1):c.3664G>C (p.Glu1222Gln)	BRIP1 (E1222Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 187564	NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)	BRIP1 (L1221R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1562222	NM_032043.3(BRIP1):c.3661C>T (p.Leu1221=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 929545	NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)	BRIP1 (L1221V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1943950	NM_032043.3(BRIP1):c.3660A>C (p.Glu1220Asp)	BRIP1 (E1220D)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1558465	NM_032043.3(BRIP1):c.3660A>G (p.Glu1220=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 840400	NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly)	BRIP1 (E1220G)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 483211	NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys)	BRIP1 (E1220K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 461161	NM_032043.3(BRIP1):c.3658G>T (p.Glu1220Ter)	BRIP1 (E1220*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 1000494	NM_032043.3(BRIP1):c.3656del (p.Asn1219fs)	BRIP1 (N1219fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 582853	NM_032043.3(BRIP1):c.3655A>C (p.Asn1219His)	BRIP1 (N1219H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186726	NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)	BRIP1 (W1217*)	Single nucleotide variant (nonsense)	not specified +5 more	GUncertain significance
Select item 141402	NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)	BRIP1 (W1217C)	Single nucleotide variant (missense variant)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 1961064	NM_032043.3(BRIP1):c.3650G>T (p.Trp1217Leu)	BRIP1 (W1217L)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 578293	NM_032043.3(BRIP1):c.3647C>T (p.Thr1216Ile)	BRIP1 (T1216I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 1010932	NM_032043.3(BRIP1):c.3642A>C (p.Lys1214Asn)	BRIP1 (K1214N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 2949790	NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)	BRIP1 (K1214T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 1605071	NM_032043.3(BRIP1):c.3639A>G (p.Val1213=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GBenign/Likely benign
Select item 1979356	NM_032043.3(BRIP1):c.3637G>A (p.Val1213Ile)	BRIP1 (V1213I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 630230	NM_032043.3(BRIP1):c.3636T>C (p.Asn1212=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 1491178	NM_032043.3(BRIP1):c.3634A>G (p.Asn1212Asp)	BRIP1 (N1212D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1467202	NM_032043.3(BRIP1):c.3632del (p.Gly1211fs)	BRIP1 (G1211fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 574915	NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)	BRIP1 (G1211S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 419945	NM_032043.3(BRIP1):c.3629_3631del (p.Asp1210del)	BRIP1	Deletion (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 1085419	NM_032043.3(BRIP1):c.3630T>C (p.Asp1210=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +1 more	GBenign/Likely benign
Select item 958216	NM_032043.3(BRIP1):c.3629A>G (p.Asp1210Gly)	BRIP1 (D1210G)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1056468	NM_032043.3(BRIP1):c.3627T>A (p.Ile1209=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GBenign/Likely benign

<< First< Prev

Page of 39