C1849437[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1133010	NM_014714.4(IFT140):c.4388G>A (p.Ter1463=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1062882	NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?)	IFT140	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 971136	NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu)	IFT140 (P1462L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1118806	NM_014714.4(IFT140):c.4383C>T (p.Asp1461=)	IFT140	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +1 more	GLikely benign
Select item 317984	NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)	IFT140 (D1461N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 317985	NM_014714.4(IFT140):c.4380C>T (p.Asp1460=)	IFT140	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1491602	NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)	IFT140 (D1460G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 1449015	NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs)	IFT140 (D1460fs)	Insertion (frameshift variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1059677	NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)	IFT140 (D1460N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1362984	NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)	IFT140	Deletion (inframe_deletion)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1439335	NM_014714.4(IFT140):c.4366G>A (p.Glu1456Lys)	IFT140 (E1456K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1152576	NM_014714.4(IFT140):c.4362G>T (p.Val1454=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 887467	NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)	IFT140 (E1452K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 2731572	NM_014714.4(IFT140):c.4353C>T (p.Asp1451=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GBenign
Select item 887468	NM_014714.4(IFT140):c.4350G>A (p.Leu1450=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 1054206	NM_014714.4(IFT140):c.4341del (p.Arg1448fs)	IFT140 (R1448fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1960619	NM_014714.4(IFT140):c.4339G>A (p.Ala1447Thr)	IFT140 (A1447T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 750237	NM_014714.4(IFT140):c.4338C>T (p.Asp1446=)	IFT140	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1436459	NM_014714.4(IFT140):c.4330A>G (p.Met1444Val)	IFT140 (M1444V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1979032	NM_014714.4(IFT140):c.4320C>T (p.Arg1440=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1130106	NM_014714.4(IFT140):c.4319G>A (p.Arg1440His)	IFT140 (R1440H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 465320	NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)	IFT140 (R1440C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GUncertain significance
Select item 856505	NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys)	IFT140 (E1437K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2899001	NM_014714.4(IFT140):c.4308C>T (p.Pro1436=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 855250	NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)	IFT140 (V1435I)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1141021	NM_014714.4(IFT140):c.4302C>T (p.Thr1434=)	IFT140	Single nucleotide variant (synonymous variant)	IFT140-related condition +2 more	GLikely benign
Select item 1510016	NM_014714.4(IFT140):c.4300A>G (p.Thr1434Ala)	IFT140 (T1434A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2110547	NM_014714.4(IFT140):c.4299C>G (p.Arg1433=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 771596	NM_014714.4(IFT140):c.4298G>A (p.Arg1433His)	IFT140 (R1433H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 858968	NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)	IFT140 (R1433C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1973139	NM_014714.4(IFT140):c.4278G>A (p.Gly1426=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 317986	NM_014714.4(IFT140):c.4278G>T (p.Gly1426=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 1936706	NM_014714.4(IFT140):c.4277G>T (p.Gly1426Val)	IFT140 (G1426V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317987	NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu)	IFT140 (G1426E)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 957473	NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)	IFT140 (R1425Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 934789	NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)	IFT140 (R1425W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 766975	NM_014714.4(IFT140):c.4273C>A (p.Arg1425=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 942016	NM_014714.4(IFT140):c.4272C>A (p.His1424Gln)	IFT140 (H1424Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2163214	NM_014714.4(IFT140):c.4270C>T (p.His1424Tyr)	IFT140 (H1424Y)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1007047	NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)	IFT140 (V1423M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 317988	NM_014714.4(IFT140):c.4266C>T (p.Ala1422=)	IFT140	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 387707	NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr)	IFT140 (A1422T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 767489	NM_014714.4(IFT140):c.4263C>T (p.Asp1421=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 775020	NM_014714.4(IFT140):c.4260G>C (p.Val1420=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1985081	NM_014714.4(IFT140):c.4258G>A (p.Val1420Met)	IFT140 (V1420M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1578131	NM_014714.4(IFT140):c.4257C>T (p.Ala1419=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2178887	NM_014714.4(IFT140):c.4254G>A (p.Gln1418=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 887656	NM_014714.4(IFT140):c.4251G>A (p.Pro1417=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 856649	NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu)	IFT140 (P1417L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2093929	NM_014714.4(IFT140):c.4242C>A (p.Tyr1414Ter)	IFT140 (Y1414*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2077957	NM_014714.4(IFT140):c.4242C>T (p.Tyr1414=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1431973	NM_014714.4(IFT140):c.4232T>C (p.Met1411Thr)	IFT140 (M1411T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1349781	NM_014714.4(IFT140):c.4232T>G (p.Met1411Arg)	IFT140 (M1411R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2081690	NM_014714.4(IFT140):c.4231A>C (p.Met1411Leu)	IFT140 (M1411L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2011120	NM_014714.4(IFT140):c.4228A>G (p.Asn1410Asp)	IFT140 (N1410D)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2417140	NM_014714.4(IFT140):c.4227C>T (p.Ala1409=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1124857	NM_014714.4(IFT140):c.4227C>G (p.Ala1409=)	IFT140	Single nucleotide variant (synonymous variant)	IFT140-related condition +2 more	GLikely benign
Select item 1642393	NM_014714.4(IFT140):c.4221C>A (p.Pro1407=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1489972	NM_014714.4(IFT140):c.4220C>T (p.Pro1407Leu)	IFT140 (P1407L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 719195	NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)	IFT140	Microsatellite (inframe_insertion)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 849213	NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del)	IFT140 (R1405del)	Microsatellite (inframe_deletion)	Saldino-Mainzer syndrome	GUncertain significance
Select item 859231	NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln)	IFT140 (R1405Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2870110	NM_014714.4(IFT140):c.4211G>A (p.Arg1404Gln)	IFT140 (R1404Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1440471	NM_014714.4(IFT140):c.4210C>T (p.Arg1404Trp)	IFT140 (R1404W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180364	NM_014714.4(IFT140):c.4209G>A (p.Arg1403=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2749032	NM_014714.4(IFT140):c.4208G>T (p.Arg1403Leu)	IFT140 (R1403L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 499715	NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)	IFT140 (R1403Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 2858569	NM_014714.4(IFT140):c.4207del (p.Arg1403fs)	IFT140 (R1403fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1424622	NM_014714.4(IFT140):c.4207C>T (p.Arg1403Trp)	IFT140 (R1403W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 835647	NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)	IFT140 (M1402T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1944369	NM_014714.4(IFT140):c.4204A>G (p.Met1402Val)	IFT140 (M1402V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2132725	NM_014714.4(IFT140):c.4203G>A (p.Glu1401=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 968153	NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln)	IFT140 (E1401Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1099784	NM_014714.4(IFT140):c.4200G>A (p.Glu1400=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1638625	NM_014714.4(IFT140):c.4195C>T (p.Leu1399=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1966337	NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys)	IFT140 (R1397K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 957159	NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys)	IFT140 (Y1396C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1099989	NM_014714.4(IFT140):c.4183-6C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1616160	NM_014714.4(IFT140):c.4183-11C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 2103864	NM_014714.4(IFT140):c.4183-12C>G	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1610699	NM_014714.4(IFT140):c.4183-12C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2159776	NM_014714.4(IFT140):c.4183-14C>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1092091	NM_014714.4(IFT140):c.4183-16T>G	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2803523	NM_014714.4(IFT140):c.4183-19G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1997959	NM_014714.4(IFT140):c.4183-21_4183-20dup	IFT140	Duplication (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1598532	NM_014714.4(IFT140):c.4183-20T>C	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1973597	NM_014714.4(IFT140):c.4182+20C>G	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1142092	NM_014714.4(IFT140):c.4182+18C>G	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 887657	NM_014714.4(IFT140):c.4182+15C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 1916499	NM_014714.4(IFT140):c.4182+14G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2020173	NM_014714.4(IFT140):c.4180_4182+12del	IFT140	Deletion (splice donor variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1444745	NM_014714.4(IFT140):c.4182+4A>C	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1521653	NM_014714.4(IFT140):c.4181C>T (p.Thr1394Met)	IFT140 (T1394M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1044875	NM_014714.4(IFT140):c.4179G>C (p.Gln1393His)	IFT140 (Q1393H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1398154	NM_014714.4(IFT140):c.4172A>G (p.Glu1391Gly)	IFT140 (E1391G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2730998	NM_014714.4(IFT140):c.4166A>G (p.Lys1389Arg)	IFT140 (K1389R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 938528	NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln)	IFT140 (R1388Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1387423	NM_014714.4(IFT140):c.4162C>T (p.Arg1388Trp)	IFT140 (R1388W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 963729	NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)	IFT140 (V1387M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 858488	NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)	IFT140 (V1387L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity

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