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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1043045	NM_001385641.1(SAMD11):c.655G>A (p.Ala219Thr)	SAMD11 (A219T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1002057	NM_001385641.1(SAMD11):c.772A>G (p.Ile258Val)	SAMD11 (I258V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1085785	NM_001385641.1(SAMD11):c.910C>T (p.His304Tyr)	SAMD11 (H125Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1427749	NM_001385641.1(SAMD11):c.1045G>A (p.Glu349Lys)	SAMD11 (E349K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1006858	NM_001385641.1(SAMD11):c.1336G>A (p.Ala446Thr)	SAMD11 (A283T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2334732	NM_001385641.1(SAMD11):c.1535G>A (p.Arg512Gln)	SAMD11 (R512Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1014818	NM_001385641.1(SAMD11):c.2072C>T (p.Ser691Phe)	LOC129929063, SAMD11 (S528F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1099329	NM_001385641.1(SAMD11):c.2378G>A (p.Arg793Gln)	SAMD11 (R630Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 942854	NM_001385641.1(SAMD11):c.2455G>A (p.Gly819Ser)	SAMD11 (G656S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1354468	NM_005101.4(ISG15):c.83T>A (p.Leu28Gln)	ISG15 (L28Q)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GConflicting classifications of pathogenicity
Select item 1644340	NM_005101.4(ISG15):c.151G>T (p.Gly51Cys)	ISG15 (G51C)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 652606	NM_005101.4(ISG15):c.158C>T (p.Ala53Val)	ISG15 (A53V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 568195	NM_005101.4(ISG15):c.296G>A (p.Arg99Gln)	ISG15 (R99Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 210112	NM_198576.4(AGRN):c.67G>C (p.Val23Leu)	AGRN (V23L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 581563	NM_198576.4(AGRN):c.183G>C (p.Gln61His)	AGRN (Q61H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 541203	NM_198576.4(AGRN):c.384C>G (p.His128Gln)	LOC126805576, AGRN (H128Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 210111	NM_198576.4(AGRN):c.526C>T (p.Leu176=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 861301	NM_198576.4(AGRN):c.749A>C (p.Asn250Thr)	AGRN (N145T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GConflicting classifications of pathogenicity
Select item 430121	NM_198576.4(AGRN):c.752T>C (p.Val251Ala)	AGRN (V251A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 704003	NM_198576.4(AGRN):c.800C>T (p.Thr267Met)	AGRN (T162M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 474098	NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)	AGRN (R400W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 939344	NM_198576.4(AGRN):c.1199G>A (p.Arg400Gln)	AGRN (R400Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 1056623	NM_198576.4(AGRN):c.1352G>A (p.Arg451His)	AGRN (R346H +1 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 263161	NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)	AGRN (P465L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2255877	NM_198576.4(AGRN):c.1478C>T (p.Ala493Val)	AGRN (A493V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 1014329	NM_198576.4(AGRN):c.1553C>T (p.Thr518Met)	AGRN (T413M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GConflicting classifications of pathogenicity
Select item 541213	NM_198576.4(AGRN):c.1557C>T (p.Ala519=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446814	NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp)	AGRN (R524W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 946119	NM_198576.4(AGRN):c.1685T>C (p.Leu562Ser)	AGRN (L457S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 650838	NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)	AGRN (R622W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GConflicting classifications of pathogenicity
Select item 541160	NM_198576.4(AGRN):c.1891G>A (p.Val631Met)	AGRN (V631M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 501493	NM_198576.4(AGRN):c.2013C>T (p.Ser671=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 649242	NM_198576.4(AGRN):c.2219G>A (p.Arg740Gln)	AGRN (R740Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 574242	NM_198576.4(AGRN):c.2276C>T (p.Pro759Leu)	AGRN (P759L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 498628	NM_198576.4(AGRN):c.2306C>T (p.Thr769Met)	AGRN (T769M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 954261	NM_198576.4(AGRN):c.2404G>A (p.Gly802Ser)	AGRN (G697S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 387869	NM_198576.4(AGRN):c.2501G>A (p.Arg834Gln)	AGRN (R834Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 841988	NM_198576.4(AGRN):c.2559C>T (p.Gly853=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 772347	NM_198576.4(AGRN):c.2563G>A (p.Val855Met)	AGRN (V855M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 235570	NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)	AGRN (A897V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 658761	NM_198576.4(AGRN):c.3001C>A (p.Pro1001Thr)	AGRN (P1001T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 855474	NM_198576.4(AGRN):c.3004G>A (p.Gly1002Ser)	AGRN (G1002S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 653290	NM_198576.4(AGRN):c.3056C>T (p.Pro1019Leu)	AGRN (P1019L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 474116	NM_198576.4(AGRN):c.3353C>A (p.Thr1118Lys)	AGRN (T1118K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 210108	NM_198576.4(AGRN):c.3732C>T (p.His1244=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 210109	NM_198576.4(AGRN):c.3752-6C>T	AGRN	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 663617	NM_198576.4(AGRN):c.3958G>A (p.Gly1320Arg)	AGRN (G1215R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 568798	NM_198576.4(AGRN):c.3971C>T (p.Pro1324Leu)	AGRN (P1324L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 705729	NM_198576.4(AGRN):c.4021G>A (p.Gly1341Arg)	AGRN (G1236R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 1415122	NM_198576.4(AGRN):c.4061C>A (p.Thr1354Asn)	AGRN (T1354N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GConflicting classifications of pathogenicity
Select item 579825	NM_198576.4(AGRN):c.4073C>T (p.Pro1358Leu)	AGRN (P1358L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1156526	NM_198576.4(AGRN):c.4476C>T (p.Asp1492=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 252808	NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)	AGRN (E1547K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705031	NM_198576.4(AGRN):c.4694A>G (p.Gln1565Arg)	AGRN (Q1565R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 2052665	NM_198576.4(AGRN):c.4739G>A (p.Arg1580His)	AGRN (R1475H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 1429166	NM_198576.4(AGRN):c.4744G>A (p.Gly1582Arg)	AGRN (G1582R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 291137	NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del)	AGRN	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 474139	NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys)	AGRN (E1614K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 282708	NM_198576.4(AGRN):c.4869C>A (p.Phe1623Leu)	AGRN (F1623L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1356678	NM_198576.4(AGRN):c.5012G>A (p.Arg1671Gln)	AGRN (R1566Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 243039	NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	AGRN (G1675S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GConflicting classifications of pathogenicity
Select item 541191	NM_198576.4(AGRN):c.5095C>T (p.Arg1699Cys)	AGRN (R1699C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1061432	NM_198576.4(AGRN):c.5096G>A (p.Arg1699His)	AGRN (R1594H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 128314	NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn)	AGRN (D1785N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 424015	NM_198576.4(AGRN):c.5387G>A (p.Arg1796His)	AGRN (R1796H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 474157	NM_198576.4(AGRN):c.5735C>T (p.Ala1912Val)	AGRN (A1912V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 541146	NM_198576.4(AGRN):c.5837C>T (p.Pro1946Leu)	AGRN (P1946L +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 574619	NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)	AGRN (A2008T +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GConflicting classifications of pathogenicity
Select item 966997	NM_003327.4(TNFRSF4):c.801G>C (p.Gln267His)	TNFRSF4 (Q267H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 573043	NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr)	TNFRSF4 (I165T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392324	NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)	B3GALT6 (P36L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 800256	NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)	B3GALT6 (G37R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 800197	NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)	B3GALT6 (G37E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1323967	NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs)	B3GALT6 (R68fs)	Deletion (frameshift variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 60490	NM_080605.4(B3GALT6):c.353del (p.Asp118fs)	B3GALT6 (D118fs)	Deletion (frameshift variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 421834	NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup)	B3GALT6	Microsatellite (inframe_insertion)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 986387	NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)	B3GALT6 (F149L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures +3 more	GConflicting classifications of pathogenicity
Select item 732174	NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)	B3GALT6 (R162Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1498946	NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)	B3GALT6 (E174fs)	Deletion (frameshift variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 373234	NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)	B3GALT6 (A172V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1035382	NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys)	B3GALT6 (R180C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 624636	NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys)	B3GALT6 (Y182C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 427130	NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)	B3GALT6 (R197fs)	Duplication (frameshift variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures +4 more	GConflicting classifications of pathogenicity
Select item 390607	NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg)	B3GALT6 (G195R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +3 more	GConflicting classifications of pathogenicity
Select item 597117	NM_080605.4(B3GALT6):c.585G>T (p.Gly195=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 1063834	NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser)	B3GALT6 (P211S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 60485	NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)	B3GALT6 (R232C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 290128	NM_080605.4(B3GALT6):c.699C>T (p.Asp233=)	B3GALT6	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283369	NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GConflicting classifications of pathogenicity
Select item 283589	NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GConflicting classifications of pathogenicity
Select item 283597	NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)	B3GALT6 (D285N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +4 more	GConflicting classifications of pathogenicity
Select item 1323966	NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)	B3GALT6 (R302fs)	Duplication (frameshift variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 1313270	NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu)	B3GALT6 (S319L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1562503	NM_001330311.2(DVL1):c.2005G>T (p.Val669Phe)	DVL1 (V644F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1600778	NM_001330311.2(DVL1):c.1961T>C (p.Val654Ala)	DVL1 (V629A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1546111	NM_001330311.2(DVL1):c.1900G>T (p.Ala634Ser)	DVL1 (A609S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1493997	NM_001330311.2(DVL1):c.1877G>A (p.Arg626His)	DVL1 (R601H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2638003	NM_001330311.2(DVL1):c.1876C>T (p.Arg626Cys)	DVL1 (R601C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1990727	NM_001330311.2(DVL1):c.1864G>A (p.Gly622Ser)	DVL1 (G597S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 722475	NM_001330311.2(DVL1):c.1802G>T (p.Gly601Val)	DVL1 (G576V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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