29077[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 884450	NM_014714.4(IFT140):c.*430G>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317974	NM_014714.4(IFT140):c.*429C>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 884451	NM_014714.4(IFT140):c.*403G>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 317975	NM_014714.4(IFT140):c.*278C>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317976	NM_014714.4(IFT140):c.*235C>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GBenign
Select item 317977	NM_014714.4(IFT140):c.*226T>G	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 885375	NM_014714.4(IFT140):c.*207C>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317978	NM_014714.4(IFT140):c.*158G>C	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317979	NM_014714.4(IFT140):c.*153C>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317980	NM_014714.4(IFT140):c.*118G>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 885376	NM_014714.4(IFT140):c.*91G>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 885377	NM_014714.4(IFT140):c.*63A>G	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 317981	NM_014714.4(IFT140):c.*59T>C	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 317982	NM_014714.4(IFT140):c.*46T>G	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317983	NM_014714.4(IFT140):c.*23C>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 281447	NM_014714.4(IFT140):c.*2G>A	IFT140	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
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)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 317984	NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)	IFT140 (D1461N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 317985	NM_014714.4(IFT140):c.4380C>T (p.Asp1460=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 1491602	NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)	IFT140 (D1460G)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2493500	NM_014714.4(IFT140):c.4375G>T (p.Asp1459Tyr)	IFT140 (D1459Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362984	NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)	IFT140	Deletion (inframe_deletion)	Retinitis pigmentosa 80 +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 2630040	NM_014714.4(IFT140):c.4359G>C (p.Glu1453Asp)	IFT140 (E1453D)	Single nucleotide variant (missense variant)	IFT140-related disorder	GUncertain significance
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 3028323	NM_014714.4(IFT140):c.4339G>T (p.Ala1447Ser)	IFT140 (A1447S)	Single nucleotide variant (missense variant)	Retinal dystrophy	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 1690563	NM_014714.4(IFT140):c.4323dup (p.Asn1442fs)	IFT140 (N1442fs)	Duplication (frameshift variant)	See cases	GLikely pathogenic
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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 856505	NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys)	IFT140 (E1437K)	Single nucleotide variant (missense variant)	Retinal dystrophy +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 3108375	NM_014714.4(IFT140):c.4304T>G (p.Val1435Gly)	IFT140 (V1435G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Retinal dystrophy +1 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)	not provided +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)	Saldino-Mainzer syndrome +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)	Inborn genetic diseases +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)	Retinal dystrophy +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)	not provided +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	GLikely benign
Select item 775020	NM_014714.4(IFT140):c.4260G>C (p.Val1420=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	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)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2249176	NM_014714.4(IFT140):c.4243G>A (p.Val1415Met)	IFT140 (V1415M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 523182	NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs)	IFT140 (Y1414fs)	Duplication (frameshift variant)	Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	GPathogenic
Select item 3028324	NM_014714.4(IFT140):c.4235C>T (p.Ser1412Phe)	IFT140 (S1412F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1312108	NM_014714.4(IFT140):c.4234T>C (p.Ser1412Pro)	IFT140 (S1412P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Saldino-Mainzer syndrome +1 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)	Saldino-Mainzer syndrome +1 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

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