C0029454[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501201	NM_014028.4(OSTM1):c.255_256delinsC (p.Glu86fs)	OSTM1 (E86fs)	Indel (frameshift variant)	Osteopetrosis	GLikely pathogenic
Select item 1217234	NM_006019.4(TCIRG1):c.504-6C>A	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +2 more	GPathogenic
Select item 555504	NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)	TCIRG1 (E342* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 830066	NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)	TCIRG1 (Q156* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 5463	NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	TCIRG1 (G405R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 975009	NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)	TCIRG1 (D219N +2 more)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system +3 more	GLikely pathogenic
Select item 852649	NM_006019.4(TCIRG1):c.1554+2T>A	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1 +2 more	GPathogenic
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 551284	NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)	TCIRG1 (R670* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic