LOC105371046[gene] - 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 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 2817454	NM_014714.4(IFT140):c.1524+19G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1020747	NM_014714.4(IFT140):c.1524+17C>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2149247	NM_014714.4(IFT140):c.1524+16A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 884263	NM_014714.4(IFT140):c.1524+14C>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Retinitis pigmentosa 80 +1 more	GBenign/Likely benign
Select item 734017	NM_014714.4(IFT140):c.1524+8G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 512128	NM_014714.4(IFT140):c.1524+3A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GBenign/Likely benign
Select item 2417308	NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser)	IFT140, LOC105371046 (W507S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 835899	NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu)	IFT140, LOC105371046 (W507L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1716423	NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg)	IFT140, LOC105371046 (W507R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2142002	NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)	IFT140, LOC105371046 (R505Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1459143	NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter)	IFT140, LOC105371046 (R505*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +1 more	GPathogenic
Select item 1078566	NM_014714.4(IFT140):c.1509A>G (p.Gln503=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 3066359	NM_014714.4(IFT140):c.1496_1505del (p.Ser499fs)	IFT140, LOC105371046 (S499fs)	Deletion (frameshift variant)	Retinitis pigmentosa 80	GLikely pathogenic
Select item 1492515	NM_014714.4(IFT140):c.1504G>A (p.Val502Ile)	IFT140, LOC105371046 (V502I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 2631767	NM_014714.4(IFT140):c.1500_1503del (p.Asn500fs)	IFT140, LOC105371046 (N500fs)	Deletion (frameshift variant)	IFT140-related disorder	GLikely pathogenic
Select item 2173520	NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)	IFT140, LOC105371046 (R501Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2158995	NM_014714.4(IFT140):c.1501C>A (p.Arg501=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1071413	NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter)	IFT140, LOC105371046 (R501*)	Single nucleotide variant (nonsense)	IFT140-related disorder +1 more	GPathogenic
Select item 2053726	NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)	IFT140, LOC105371046 (N500D)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2021017	NM_014714.4(IFT140):c.1491G>A (p.Val497=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1440304	NM_014714.4(IFT140):c.1490T>C (p.Val497Ala)	IFT140, LOC105371046 (V497A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 850163	NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)	IFT140, LOC105371046 (T496M)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 2021720	NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala)	IFT140, LOC105371046 (T496A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1471084	NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp)	IFT140, LOC105371046 (Y495D)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 884264	NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)	IFT140, LOC105371046 (V494I)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1081554	NM_014714.4(IFT140):c.1479C>T (p.Asn493=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1358218	NM_014714.4(IFT140):c.1469A>G (p.His490Arg)	IFT140, LOC105371046 (H490R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1368722	NM_014714.4(IFT140):c.1465A>G (p.Met489Val)	IFT140, LOC105371046 (M489V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 3028345	NM_014714.4(IFT140):c.1456G>A (p.Val486Met)	IFT140, LOC105371046 (V486M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 886293	NM_014714.4(IFT140):c.1452G>A (p.Thr484=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 446314	NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)	IFT140, LOC105371046 (T484M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 812334	NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr)	IFT140, LOC105371046 (C482Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 970225	NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu)	IFT140, LOC105371046 (F480L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1053334	NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu)	IFT140, LOC105371046 (G478E)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1588089	NM_014714.4(IFT140):c.1433-8C>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2070961	NM_014714.4(IFT140):c.1433-11T>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2172846	NM_014714.4(IFT140):c.1433-14G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1621846	NM_014714.4(IFT140):c.1433-15C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Retinitis pigmentosa 80 +1 more	GLikely benign
Select item 2914665	NM_014714.4(IFT140):c.1432+20A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2109831	NM_014714.4(IFT140):c.1432+18G>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1021132	NM_014714.4(IFT140):c.1432+18G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2172434	NM_014714.4(IFT140):c.1432+17C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1420414	NM_014714.4(IFT140):c.1432+8C>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1970260	NM_014714.4(IFT140):c.1432+5G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 3348113	NM_014714.4(IFT140):c.1432+1G>A	IFT140, LOC105371046	Single nucleotide variant (splice donor variant)	IFT140-related disorder	GLikely pathogenic
Select item 1374611	NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)	IFT140, LOC105371046 (A477S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1156399	NM_014714.4(IFT140):c.1428T>C (p.Ser476=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 967795	NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg)	IFT140, LOC105371046 (S476R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1717726	NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr)	IFT140, LOC105371046 (S476T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1115745	NM_014714.4(IFT140):c.1425G>C (p.Arg475=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 573668	NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln)	IFT140, LOC105371046 (R475Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1465118	NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp)	IFT140, LOC105371046 (R475W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1184606	NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs)	IFT140, LOC105371046 (R475fs)	Insertion (frameshift variant)	Retinitis pigmentosa 80	GPathogenic
Select item 798222	NM_014714.4(IFT140):c.1422A>G (p.Ile474Met)	IFT140, LOC105371046 (I474M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GBenign
Select item 1412175	NM_014714.4(IFT140):c.1418C>T (p.Ala473Val)	IFT140, LOC105371046 (A473V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 846110	NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)	IFT140, LOC105371046 (A473T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1021507	NM_014714.4(IFT140):c.1406T>A (p.Leu469His)	IFT140, LOC105371046 (L469H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 3028346	NM_014714.4(IFT140):c.1405C>A (p.Leu469Ile)	IFT140, LOC105371046 (L469I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely benign
Select item 960329	NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)	IFT140, LOC105371046 (L469V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1932582	NM_014714.4(IFT140):c.1404G>A (p.Glu468=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 886294	NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys)	IFT140, LOC105371046 (E468K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1584930	NM_014714.4(IFT140):c.1401C>T (p.Phe467=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +1 more	GLikely benign
Select item 2049620	NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)	IFT140, LOC105371046 (A465V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 866936	NM_014714.4(IFT140):c.1390G>T (p.Val464Leu)	IFT140, LOC105371046 (V464L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 2907095	NM_014714.4(IFT140):c.1383A>C (p.Gly461=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1349795	NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg)	IFT140, LOC105371046 (G461R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 886295	NM_014714.4(IFT140):c.1380C>T (p.Asn460=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 97055	NM_014714.4(IFT140):c.1380del (p.Asn460fs)	IFT140, LOC105371046 (N460fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome +1 more	GPathogenic
Select item 580815	NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)	LOC105371046, IFT140 (W459*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1515975	NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)	IFT140, LOC105371046 (W459S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 2173913	NM_014714.4(IFT140):c.1371A>G (p.Ala457=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 845162	NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)	IFT140, LOC105371046 (A457T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1607105	NM_014714.4(IFT140):c.1368C>T (p.Val456=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1530581	NM_014714.4(IFT140):c.1365T>C (p.Ala455=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1060605	NM_014714.4(IFT140):c.1364C>T (p.Ala455Val)	IFT140, LOC105371046 (A455V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 2733348	NM_014714.4(IFT140):c.1362T>C (p.Asp454=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1366632	NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly)	IFT140, LOC105371046 (D454G)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2887813	NM_014714.4(IFT140):c.1360-13T>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 318191	NM_014714.4(IFT140):c.1360-14G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 1629401	NM_014714.4(IFT140):c.1359+20G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1621877	NM_014714.4(IFT140):c.1359+17C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Retinitis pigmentosa 80 +1 more	GLikely benign
Select item 1580309	NM_014714.4(IFT140):c.1359+15G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1938384	NM_014714.4(IFT140):c.1359+13G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1166058	NM_014714.4(IFT140):c.1359+12G>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GBenign/Likely benign
Select item 1575387	NM_014714.4(IFT140):c.1359+10G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1093566	NM_014714.4(IFT140):c.1359+9C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1323104	NM_014714.4(IFT140):c.1359_1359+3delinsAC	IFT140, LOC105371046	Indel (splice donor variant)	Retinitis pigmentosa 80 +2 more	GPathogenic/Likely pathogenic

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