C1850127[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334165	NM_006019.4(TCIRG1):c.117+4A>C	TCIRG1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1726300	NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)	MIR6753, TCIRG1 (C241* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1724613	NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)	TCIRG1 (E251fs +1 more)	Insertion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1725472	NM_006019.4(TCIRG1):c.766del (p.Ala256fs)	TCIRG1 (A256fs +1 more)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1725359	NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)	TCIRG1 (N171fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1725604	NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)	TCIRG1 (F143fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1725044	NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)	TCIRG1 (S176fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1724846	NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)	TCIRG1 (A225fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 189246	NM_006019.4(TCIRG1):c.1674-1G>A	TCIRG1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 1724924	NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)	TCIRG1 (T277fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1726423	NM_006019.4(TCIRG1):c.1812del (p.Ser605fs)	TCIRG1 (S307fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1726406	NM_006019.4(TCIRG1):c.1884del (p.Gln629fs)	TCIRG1 (Q331fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1451764	NM_006019.4(TCIRG1):c.1978del (p.Arg660fs)	TCIRG1 (R362fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic