"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "THTPA"[ - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786797	NM_033400.3(ZFHX2):c.7394C>T (p.Pro2465Leu)	THTPA, ZFHX2 (P2465L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777434	NM_033400.3(ZFHX2):c.6398C>A (p.Thr2133Asn)	THTPA, ZFHX2 (T2133N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771193	NM_033400.3(ZFHX2):c.5006C>T (p.Ala1669Val)	THTPA, ZFHX2 (A1669V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 738662	NM_033400.3(ZFHX2):c.4953C>A (p.Arg1651=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785454	NM_033400.3(ZFHX2):c.4866C>T (p.Asp1622=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717011	NM_033400.3(ZFHX2):c.4018T>G (p.Phe1340Val)	ZFHX2, THTPA (F1340V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 741575	NM_033400.3(ZFHX2):c.3594G>A (p.Glu1198=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778736	NM_033400.3(ZFHX2):c.2134G>A (p.Asp712Asn)	ZFHX2, THTPA (D712N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 797688	NM_033400.3(ZFHX2):c.1677A>C (p.Gly559=)	ZFHX2, THTPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797689	NM_033400.3(ZFHX2):c.1521C>T (p.Pro507=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776821	NM_033400.3(ZFHX2):c.295G>C (p.Glu99Gln)	THTPA, ZFHX2 (E99Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance