"TACR3-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379526	NM_001059.3(TACR3):c.1345G>A (p.Ala449Thr)	TACR3, TACR3-AS1 (A449T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 347107	NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr)	TACR3, TACR3-AS1 (N416Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 722739	NM_001059.3(TACR3):c.1167C>T (p.Thr389=)	TACR3-AS1, TACR3	Single nucleotide variant (synonymous variant)	TACR3-related condition +1 more	GLikely benign
Select item 419840	NM_001059.3(TACR3):c.918G>A (p.Met306Ile)	TACR3, TACR3-AS1 (M306I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2637234	NM_001059.3(TACR3):c.880A>G (p.Lys294Glu)	TACR3 (K294E)	Single nucleotide variant (missense variant)	TACR3-related condition	GUncertain significance
Select item 2631123	NM_001059.3(TACR3):c.737+1G>C	TACR3	Single nucleotide variant (splice donor variant)	TACR3-related condition	GLikely pathogenic
Select item 347113	NM_001059.3(TACR3):c.579C>T (p.Pro193=)	TACR3	Single nucleotide variant (synonymous variant)	TACR3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2633867	NM_001059.3(TACR3):c.311_312insTCCTGGATTGCAAGTATGAAATCTTCCTGGATTTGGGAAATCT (p.Leu104_Ile105insProGlyLeuGlnValTer)	TACR3	Insertion (nonsense +2 more)	TACR3-related condition	GLikely pathogenic
Select item 2724555	NM_001059.3(TACR3):c.276T>C (p.Tyr92=)	TACR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign