"GeneDx"[submitter] AND "FLRT3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146068	GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3	ESF1, FLRT3 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1259515	NM_198391.3(FLRT3):c.1380A>C (p.Glu460Asp)	FLRT3, MACROD2 (E460D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1226971	NM_198391.3(FLRT3):c.1257C>T (p.Thr419=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 21 with or without anosmia +1 more	GBenign
Select item 1288590	NM_198391.3(FLRT3):c.1200C>A (p.His400Gln)	FLRT3, MACROD2 (H400Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1317710	NM_198391.3(FLRT3):c.1134A>C (p.Gln378His)	FLRT3, MACROD2 (Q378H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 235238	NM_198391.3(FLRT3):c.1129G>A (p.Ala377Thr)	FLRT3, MACROD2 (A377T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 770298	NM_198391.3(FLRT3):c.765A>G (p.Gln255=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic