C0432235[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1558538	NM_052989.3(IFT122):c.42-17C>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 282987	NM_052989.3(IFT122):c.229G>A (p.Val77Ile)	IFT122 (V77I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1179090	NM_052989.3(IFT122):c.272+1G>A	IFT122	Single nucleotide variant (splice donor variant +1 more)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 1355382	NM_052989.3(IFT122):c.273-346C>T	IFT122 (L101F)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1323102	NM_052989.3(IFT122):c.273-281_273-271del	IFT122 (G123fs)	Deletion (frameshift variant +1 more)	Cranioectodermal dysplasia 1 +1 more	GLikely pathogenic
Select item 4637	NM_052989.3(IFT122):c.349+5G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1378718	NM_052989.3(IFT122):c.410G>C (p.Cys137Ser)	IFT122 (C188S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1537525	NM_052989.3(IFT122):c.416+12T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GBenign/Likely benign
Select item 1650469	NM_052989.3(IFT122):c.417-16T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 343234	NM_052989.3(IFT122):c.475C>T (p.Arg159Trp)	IFT122 (R210W +3 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1478596	NM_052989.3(IFT122):c.478A>G (p.Asn160Asp)	IFT122 (N108D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 419921	NM_052989.3(IFT122):c.511C>T (p.Arg171Trp)	IFT122 (R222W +3 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1499970	NM_052989.3(IFT122):c.524C>T (p.Ser175Phe)	IFT122 (S123F +3 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 772414	NM_052989.3(IFT122):c.531G>A (p.Ser177=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 343235	NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)	IFT122 (R328W +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 1348262	NM_052989.3(IFT122):c.937C>T (p.Arg313Trp)	IFT122 (R364W +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343236	NM_052989.3(IFT122):c.938G>A (p.Arg313Gln)	IFT122 (R364Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1507545	NM_052989.3(IFT122):c.986C>T (p.Ala329Val)	IFT122 (A120V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 1362762	NM_052989.3(IFT122):c.1009G>C (p.Val337Leu)	IFT122 (V187L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1464735	NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn)	IFT122 (D133N +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 194126	NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)	IFT122 (S419N +6 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 593588	NM_052989.3(IFT122):c.1148-1G>C	IFT122	Single nucleotide variant (splice acceptor variant)	Cranioectodermal dysplasia 1 +1 more	GPathogenic/Likely pathogenic
Select item 530928	NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)	IFT122 (D469N +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343240	NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu)	IFT122 (K483E +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1495478	NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser)	IFT122 (N287S +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1183155	NM_052989.3(IFT122):c.1380C>T (p.Ser460=)	IFT122	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1358006	NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg)	IFT122 (K268R +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1568203	NM_052989.3(IFT122):c.1489-16G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 901925	NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys)	IFT122 (R518C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1354069	NM_052989.3(IFT122):c.1577G>A (p.Arg526His)	IFT122 (R518H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 784791	NM_052989.3(IFT122):c.1629C>T (p.Ile543=)	IFT122	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1438171	NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp)	IFT122 (R528W +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1387338	NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln)	IFT122 (R528Q +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 211179	NM_052989.3(IFT122):c.1908T>C (p.Ile636=)	IFT122	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 902830	NM_052989.3(IFT122):c.1940G>A (p.Arg647His)	IFT122 (R647H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 620533	NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)	IFT122 (R724* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 343248	NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln)	IFT122 (R724Q +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343250	NM_052989.3(IFT122):c.2154C>T (p.His718=)	LOC126806810, IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +2 more	GBenign/Likely benign
Select item 1364859	NM_052989.3(IFT122):c.2165C>T (p.Ala722Val)	IFT122, LOC126806810 (A611V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1424015	NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe)	IFT122 (L790F +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 195537	NM_052989.3(IFT122):c.2245A>T (p.Met749Leu)	IFT122 (M800L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1179190	NM_052989.3(IFT122):c.2285del (p.Lys762fs)	IFT122 (K553fs +6 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 1498900	NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr)	IFT122 (A656T +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 707457	NM_052989.3(IFT122):c.2349C>A (p.Ile783=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +1 more	GBenign/Likely benign
Select item 1582553	NM_052989.3(IFT122):c.2375+13C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GBenign/Likely benign
Select item 857142	NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn)	IFT122 (D586N +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1387335	NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu)	IFT122 (P598L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1446630	NM_052989.3(IFT122):c.2537G>A (p.Arg846His)	IFT122 (R838H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 936724	NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr)	IFT122 (P658T +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 343256	NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu)	IFT122 (P918L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 530932	NM_052989.3(IFT122):c.2625C>T (p.Asn875=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GBenign/Likely benign
Select item 343257	NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys)	IFT122 (R928C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia +1 more	GUncertain significance
Select item 1369282	NM_052989.3(IFT122):c.2630G>A (p.Arg877His)	IFT122 (R766H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 789378	NM_052989.3(IFT122):c.2652G>A (p.Ala884=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 343258	NM_052989.3(IFT122):c.2681C>T (p.Ala894Val)	IFT122 (A945V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1550209	NM_052989.3(IFT122):c.2715C>T (p.Ala905=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 195782	NM_052989.3(IFT122):c.2720C>T (p.Ala907Val)	IFT122 (A958V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1509587	NM_052989.3(IFT122):c.2760G>A (p.Met920Ile)	IFT122 (M809I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 343259	NM_052989.3(IFT122):c.2840G>A (p.Arg947His)	IFT122 (R998H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 771246	NM_052989.3(IFT122):c.2895G>A (p.Pro965=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1531073	NM_052989.3(IFT122):c.2904C>T (p.Val968=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1614942	NM_052989.3(IFT122):c.2987+15A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1413237	NM_052989.3(IFT122):c.2992A>G (p.Ile998Val)	IFT122 (I991V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 719614	NM_052989.3(IFT122):c.3027C>T (p.Leu1009=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 948374	NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)	IFT122 (A1004P +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1358114	NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly)	IFT122 (A1069G +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 900331	NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys)	IFT122 (Y810C +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1010783	NM_052989.3(IFT122):c.3068G>A (p.Arg1023His)	IFT122 (R1016H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 1000720	NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys)	IFT122 (R1036C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343261	NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val)	IFT122 (A1095V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1398953	NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser)	IFT122 (N1064S +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 900332	NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu)	IFT122 (P1116L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1384252	NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile)	IFT122 (V1014I +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1384492	NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu)	IFT122 (R1019L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343264	NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys)	IFT122 (Y1139C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1628332	NM_052989.3(IFT122):c.3266-19C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 211181	NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)	IFT122	Single nucleotide variant (synonymous variant)	IFT122-related disorder +3 more	GBenign/Likely benign
Select item 530929	NM_052989.3(IFT122):c.3462G>A (p.Leu1154=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GBenign/Likely benign
Select item 1154085	NM_052989.3(IFT122):c.3504G>C (p.Val1168=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1506417	NM_052989.3(IFT122):c.3521G>A (p.Arg1174His)	IFT122 (R1115H +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1353527	NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys)	IFT122 (R1189C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 707499	NM_052989.3(IFT122):c.3594G>T (p.Leu1198=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1497496	NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr)	IFT122 (M1103T +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1374933	NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu)	IFT122 (F1104L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 902060	NM_052989.3(IFT122):c.3698G>A (p.Arg1233His)	IFT122 (R1226H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 85