"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TCIRG1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990507	NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp)	TCIRG1 (R6W)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 990509	NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)	TCIRG1 (A20V)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 284040	NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 5462	NM_006019.4(TCIRG1):c.117+4A>T	TCIRG1	Single nucleotide variant (genic upstream transcript variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 551450	NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	TCIRG1 (P81fs)	Deletion (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 990513	NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu)	TCIRG1 (P87L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 751855	NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GLikely benign
Select item 550156	NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met)	TCIRG1 (T210M)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 198537	NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser)	TCIRG1 (F219S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 552719	NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met)	TCIRG1 (T236M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 991159	NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg)	TCIRG1 (G255R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 305790	NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln)	TCIRG1 (R284Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1480777	NM_006019.4(TCIRG1):c.911T>C (p.Leu304Pro)	TCIRG1 (L6P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991162	NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr)	TCIRG1 (A115T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 305795	NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=)	TCIRG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 991167	NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser)	TCIRG1 (C138S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 548582	NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys)	TCIRG1 (R363C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991168	NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His)	TCIRG1 (R147H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 552227	NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)	TCIRG1 (G405R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 235702	NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)	TCIRG1 (A417T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 882453	NM_006019.4(TCIRG1):c.1382A>G (p.Tyr461Cys)	TCIRG1 (Y245C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439289	NM_006019.4(TCIRG1):c.1438G>A (p.Ala480Thr)	TCIRG1 (A182T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1456773	NM_006019.4(TCIRG1):c.1459del (p.Trp487fs)	TCIRG1 (W189fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 194236	NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)	TCIRG1	Single nucleotide variant (synonymous variant)	Autosomal recessive osteopetrosis 1 +2 more	GBenign/Likely benign
Select item 991175	NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile)	TCIRG1 (V245I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 800871	NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)	TCIRG1 (V328M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 189246	NM_006019.4(TCIRG1):c.1674-1G>A	TCIRG1	Single nucleotide variant (splice acceptor variant)	Osteopetrosis +2 more	GPathogenic
Select item 995579	NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)	TCIRG1 (Q264* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 991506	NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln)	TCIRG1 (R330Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +2 more	GUncertain significance
Select item 555837	NM_006019.4(TCIRG1):c.1891del (p.Val631fs)	TCIRG1 (V415fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 1065118	NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys)	TCIRG1 (R362C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1488201	NM_006019.4(TCIRG1):c.1981C>T (p.Arg661Cys)	TCIRG1 (R363C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 882249	NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His)	TCIRG1 (R662H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 658416	NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter)	TCIRG1 (W391* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 1507699	NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)	TCIRG1 (I721del +2 more)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553240	NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)	TCIRG1 (Q746* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 558226	NM_006019.4(TCIRG1):c.2236+1G>A	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 991515	NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met)	TCIRG1 (V484M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38