55764[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 3365789	NC_000003.12:g.129439794G>A	IFT122, LOC129937550 +1 more (R14C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 343225	NM_052985.3(IFT122):c.-210C>A	IFT122	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 343226	NM_052985.3(IFT122):c.-206A>G	IFT122	Single nucleotide variant	not provided +1 more	GBenign
Select item 901320	NM_052985.3(IFT122):c.-145T>A	IFT122	Single nucleotide variant	Cranioectodermal dysplasia 1	GUncertain significance
Select item 901866	NM_052989.3(IFT122):c.-22C>A	IFT122, LOC129937552	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343227	NM_052989.3(IFT122):c.-3G>A	IFT122, LOC129937552	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 4638	NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)	IFT122, LOC129937552 (W7C)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2714335	NM_052989.3(IFT122):c.39C>T (p.His13=)	IFT122, LOC129937552	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 291273	NM_052989.3(IFT122):c.41+15G>T	IFT122, LOC129937552	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2981043	NM_052989.3(IFT122):c.41+16G>A	IFT122, LOC129937552	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1262972	NM_052989.3(IFT122):c.42-265T>C	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254763	NM_052989.3(IFT122):c.42-230G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558538	NM_052989.3(IFT122):c.42-17C>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1592654	NM_052989.3(IFT122):c.42-6G>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2183685	NM_052989.3(IFT122):c.42T>C (p.Cys14=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2216251	NM_052989.3(IFT122):c.47A>C (p.Asn16Thr)	IFT122 (N16T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 901867	NM_052989.3(IFT122):c.54C>T (p.Ile18=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2015157	NM_052989.3(IFT122):c.55G>T (p.Ala19Ser)	IFT122 (A19S)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2982729	NM_052989.3(IFT122):c.72A>G (p.Gly24=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1622974	NM_052989.3(IFT122):c.93C>T (p.Ala31=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2432805	NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)	IFT122 (G32R)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1396543	NM_052989.3(IFT122):c.108+4G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2169734	NM_052989.3(IFT122):c.108+10dup	IFT122	Duplication (intron variant)	Cranioectodermal dysplasia 1	GBenign
Select item 2425321	NM_052989.3(IFT122):c.108+15T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1251712	NM_052989.3(IFT122):c.108+89del	IFT122	Deletion (intron variant)	not provided	GBenign
Select item 1246859	NM_052989.3(IFT122):c.108+88_108+89del	IFT122	Deletion (intron variant)	not provided	GBenign
Select item 343228	NM_052989.3(IFT122):c.109-15T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign/Likely benign
Select item 2090243	NM_052989.3(IFT122):c.109-14G>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1620292	NM_052989.3(IFT122):c.109-10C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2771574	NM_052989.3(IFT122):c.109-7T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3108347	NM_052989.3(IFT122):c.113A>G (p.Tyr38Cys)	IFT122 (Y38C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2132808	NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)	IFT122 (G43S)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343229	NM_052989.3(IFT122):c.132C>G (p.Thr44=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 3285409	NM_052989.3(IFT122):c.137T>G (p.Leu46Arg)	IFT122 (L46R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 982385	NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)	IFT122 (C58R)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 2913104	NM_052989.3(IFT122):c.180A>G (p.Ala60=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 419260	NM_052989.3(IFT122):c.183T>G (p.Tyr61Ter)	IFT122 (Y61*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1964158	NM_052989.3(IFT122):c.185C>T (p.Ala62Val)	IFT122 (A62V)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2739839	NM_052989.3(IFT122):c.186G>A (p.Ala62=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3007010	NM_052989.3(IFT122):c.189G>A (p.Lys63=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1261022	NM_052989.3(IFT122):c.194-96C>T	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2177728	NM_052989.3(IFT122):c.194-17T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2712555	NM_052989.3(IFT122):c.194-4T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2432804	NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)	IFT122 (K66T)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3005888	NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)	IFT122 (R67C)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343230	NM_052989.3(IFT122):c.199C>A (p.Arg67Ser)	IFT122 (R67S)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3108353	NM_052989.3(IFT122):c.211G>C (p.Gly71Arg)	IFT122 (G71R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3108354	NM_052989.3(IFT122):c.212G>C (p.Gly71Ala)	IFT122 (G71A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 591658	NM_052989.3(IFT122):c.213del (p.Ser72fs)	IFT122 (S72fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 343231	NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)	IFT122 (S72A)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 3108355	NM_052989.3(IFT122):c.220G>A (p.Asp74Asn)	IFT122 (D74N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1389444	NM_052989.3(IFT122):c.227G>A (p.Ser76Asn)	IFT122 (S76N)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343232	NM_052989.3(IFT122):c.228C>T (p.Ser76=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Cranioectodermal dysplasia 1	GConflicting classifications of pathogenicity
Select item 282987	NM_052989.3(IFT122):c.229G>A (p.Val77Ile)	IFT122 (V77I)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 2149772	NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)	IFT122 (I79del)	Microsatellite (inframe_deletion +3 more)	Cranioectodermal dysplasia 1	GUncertain significance
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 2850545	NM_052989.3(IFT122):c.272+14G>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1193127	NM_052989.3(IFT122):c.272+128G>T	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270613	NM_052989.3(IFT122):c.273-694A>G	IFT122	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293727	NM_052989.3(IFT122):c.273-448_273-447insTG	IFT122	Insertion (intron variant)	not provided	GBenign
Select item 262272	NM_052989.3(IFT122):c.273-417del	IFT122	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1546456	NM_052989.3(IFT122):c.273-388T>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2017547	NM_052989.3(IFT122):c.273-374_273-369dup	IFT122	Duplication (intron variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 3285407	NM_052989.3(IFT122):c.273-357C>G	IFT122 (S97C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2038023	NM_052989.3(IFT122):c.273-341dup	IFT122 (L103fs)	Duplication (frameshift variant +1 more)	Cranioectodermal dysplasia 1	GPathogenic
Select item 1976895	NM_052989.3(IFT122):c.273-334T>G	IFT122 (F105V)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1666139	NM_052989.3(IFT122):c.273-331C>A	IFT122 (L106M)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GBenign
Select item 2867220	NM_052989.3(IFT122):c.273-323C>T	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2051856	NM_052989.3(IFT122):c.273-313G>C	IFT122 (V112L)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 197865	NM_052989.3(IFT122):c.273-308A>T	IFT122 (R113S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3108359	NM_052989.3(IFT122):c.273-301G>A	IFT122 (A116T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2018240	NM_052989.3(IFT122):c.273-283A>G	IFT122 (K122E)	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 1438536	NM_052989.3(IFT122):c.273-268A>T	IFT122 (R127W)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1978525	NM_052989.3(IFT122):c.273-266G>A	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GBenign
Select item 902768	NM_052989.3(IFT122):c.273-260T>C	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2757396	NM_052989.3(IFT122):c.273-257C>A	IFT122 (C130*)	Single nucleotide variant (nonsense +1 more)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2139567	NM_052989.3(IFT122):c.273-245C>T	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1298938	NM_052989.3(IFT122):c.273-239A>G	IFT122	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2908415	NM_052989.3(IFT122):c.273-212C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1645035	NM_052989.3(IFT122):c.273-211dup	IFT122	Duplication (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1300807	NM_052989.3(IFT122):c.273-110G>A	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939250	NM_052989.3(IFT122):c.273-16G>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 1000716	NM_052989.3(IFT122):c.291A>G (p.Gln97=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2179947	NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)	IFT122 (S100F +1 more)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3022532	NM_052989.3(IFT122):c.304A>C (p.Asn102His)	IFT122 (N102H +1 more)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 343233	NM_052989.3(IFT122):c.321A>G (p.Gln107=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Cranioectodermal dysplasia 1 +4 more	GConflicting classifications of pathogenicity
Select item 2033213	NM_052989.3(IFT122):c.347_348del (p.Phe116fs)	IFT122 (F116fs +1 more)	Deletion (frameshift variant +2 more)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2097657	NM_052989.3(IFT122):c.348T>C (p.Phe116=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 581388	NM_052989.3(IFT122):c.349+1G>A	IFT122	Single nucleotide variant (splice donor variant +1 more)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 1379317	NM_052989.3(IFT122):c.349+4C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 4637	NM_052989.3(IFT122):c.349+5G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1205106	NM_052989.3(IFT122):c.349+232A>C	IFT122	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2079242	NM_052989.3(IFT122):c.350-9G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2098042	NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)	IFT122 (W119* +2 more)	Single nucleotide variant (nonsense +1 more)	Cranioectodermal dysplasia 1	GPathogenic

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