"GeneDx"[submitter] AND "LOC126806630"[gene] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 12567	NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)	THRB, LOC126806630 (R243W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1228292	NM_001354712.2(THRB):c.533-110G>A	LOC126806630, THRB	Single nucleotide variant (intron variant)	not provided	GBenign

Format

Sort by

Choose Destination