ClinVar for MedGen (Select 934782) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582762	NM_001079858.3(ADGRG2):c.2185A>G (p.Thr729Ala)	ADGRG2 (T691A +7 more)	Single nucleotide variant (missense variant)	Vas deferens, congenital bilateral aplasia of, X-linked	GUncertain significance
Select item 2582758	NM_001079858.3(ADGRG2):c.366del (p.Phe122fs)	ADGRG2 (F100fs +7 more)	Deletion (frameshift variant)	Vas deferens, congenital bilateral aplasia of, X-linked	GLikely pathogenic
Select item 1028509	NM_001079858.3(ADGRG2):c.1618G>A (p.Val540Ile)	ADGRG2 (V518I +7 more)	Single nucleotide variant (missense variant)	Vas deferens, congenital bilateral aplasia of, X-linked	GUncertain significance
Select item 253015	NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter)	ADGRG2 (E478* +7 more)	Duplication (nonsense)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic
Select item 253014	NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs)	ADGRG2 (L644fs +7 more)	Indel (frameshift variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic
Select item 253013	NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs)	ADGRG2 (C919fs +7 more)	Deletion (frameshift variant +1 more)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic

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