C2931187[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis +7 more	GPathogenic
Select item 1504210	NM_004937.3(CTNS):c.61+2T>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Ocular cystinosis +3 more	GLikely pathogenic
Select item 836956	NM_004937.3(CTNS):c.61+5G>A	CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 1663935	NM_004937.3(CTNS):c.61+20G>A	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 322833	NM_004937.3(CTNS):c.82G>C (p.Val28Leu)	CTNS (V28L)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +3 more	GUncertain significance
Select item 1381664	NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)	CTNS (R47Q)	Single nucleotide variant (missense variant +2 more)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 990028	NM_004937.3(CTNS):c.140+3A>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 1635726	NM_004937.3(CTNS):c.141-8C>T	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely benign
Select item 21438	NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	CTNS	Deletion (inframe_deletion +2 more)	Cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1596904	NM_004937.3(CTNS):c.225+19C>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 786644	NM_004937.3(CTNS):c.327C>T (p.Thr109=)	CTNS, CTNS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Ocular cystinosis +3 more	GBenign/Likely benign
Select item 322837	NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)	CTNS, CTNS-AS1 (P111L)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GUncertain significance
Select item 712938	NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	CTNS, CTNS-AS1 (A122T)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +4 more	GConflicting classifications of pathogenicity
Select item 761319	NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)	CTNS, CTNS-AS1 (I123S)	Single nucleotide variant (missense variant +1 more)	Juvenile nephropathic cystinosis +3 more	GLikely benign
Select item 322839	NM_004937.3(CTNS):c.407T>G (p.Val136Gly)	CTNS, CTNS-AS1 (V136G)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GUncertain significance
Select item 4443	NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	CTNS, CTNS-AS1 (W138*)	Single nucleotide variant (nonsense +1 more)	Nephropathic cystinosis +4 more	GPathogenic
Select item 4458	NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	CTNS, CTNS-AS1 (S139F)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 551859	NM_004937.3(CTNS):c.425_427del (p.Phe142del)	CTNS, CTNS-AS1 (F142del)	Deletion (inframe_deletion +1 more)	Nephropathic cystinosis +2 more	GUncertain significance
Select item 889140	NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)	CTNS, CTNS-AS1 (R152W +1 more)	Single nucleotide variant (missense variant)	CTNS-related condition +3 more	GUncertain significance
Select item 21439	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	CTNS, CTNS-AS1 (L158P +1 more)	Single nucleotide variant (missense variant)	Cystinosis +5 more	GPathogenic/Likely pathogenic
Select item 21442	NM_004937.3(CTNS):c.559_561+24del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Infantile nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 189067	NM_004937.3(CTNS):c.561+1del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1585480	NM_004937.3(CTNS):c.562-20T>C	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1652153	NM_004937.3(CTNS):c.562-16C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 4451	NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	CTNS, CTNS-AS1 (G197R +1 more)	Single nucleotide variant (missense variant)	Cystinosis +5 more	GPathogenic/Likely pathogenic
Select item 990466	NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	CTNS, CTNS-AS1 (A212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 371084	NM_004937.3(CTNS):c.646dup (p.Thr216fs)	CTNS, CTNS-AS1 (T216fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 891377	NM_004937.3(CTNS):c.661G>A (p.Val221Met)	CTNS, CTNS-AS1 (V221M +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 966528	NM_004937.3(CTNS):c.681+1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice donor variant)	Ocular cystinosis +4 more	GPathogenic
Select item 664004	NM_004937.3(CTNS):c.682-1G>T	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1417838	NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)	CTNS, CTNS-AS1 (R228C +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 740597	NM_004937.3(CTNS):c.684C>T (p.Arg228=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1497879	NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)	CTNS, CTNS-AS1 (Q231K +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GUncertain significance
Select item 551688	NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	CTNS, CTNS-AS1 (V233fs +1 more)	Microsatellite (frameshift variant)	Cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 322841	NM_004937.3(CTNS):c.694C>T (p.Arg232Cys)	CTNS (R232C +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 1386952	NM_004937.3(CTNS):c.697G>A (p.Val233Met)	CTNS (V86M +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 1111224	NM_004937.3(CTNS):c.729C>T (p.Leu243=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +3 more	GLikely benign
Select item 591047	NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)	CTNS (A256L +1 more)	Indel (missense variant)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 753327	NM_004937.3(CTNS):c.822C>T (p.Leu274=)	CTNS	Single nucleotide variant (synonymous variant)	Nephropathic cystinosis +3 more	GBenign/Likely benign
Select item 889207	NM_004937.3(CTNS):c.823G>A (p.Ala275Thr)	CTNS (A275T +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 551290	NM_004937.3(CTNS):c.829dup (p.Thr277fs)	CTNS (T277fs +1 more)	Duplication (frameshift variant)	Ocular cystinosis +3 more	GPathogenic
Select item 1152835	NM_004937.3(CTNS):c.831G>T (p.Thr277=)	CTNS	Single nucleotide variant (synonymous variant)	Juvenile nephropathic cystinosis +3 more	GLikely benign
Select item 648616	NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)	CTNS (L278P +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GUncertain significance
Select item 188714	NM_004937.3(CTNS):c.926dup (p.Ser310fs)	CTNS (S310fs +1 more)	Duplication (frameshift variant)	Cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 322844	NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)	CTNS (D324N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 762831	NM_004937.3(CTNS):c.1035C>T (p.Phe345=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1095045	NM_004937.3(CTNS):c.1038C>T (p.Asp346=)	CTNS	Single nucleotide variant (synonymous variant)	Nephropathic cystinosis +3 more	GLikely benign
Select item 1179166	GRCh37/hg19 17p13.2(chr17:3539741-3561489)	CTNS	Copy number loss	Ocular cystinosis +2 more	GPathogenic

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Items: 48