"Institute of Reproductive Genetics, University of Münster"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684770	NM_031272.5(TEX14):c.4159G>A (p.Glu1387Lys)	TEX14 (E1387K +2 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 684735	NM_001201457.1:c.4297G>A(;)727C>G	TEX14 (E1387K +4 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1244241	NM_031272.5(TEX14):c.4106A>C (p.Gln1369Pro)	TEX14 (Q1369P +2 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 1244237	NM_031272.5(TEX14):c.3625_3628del (p.Ser1209fs)	TEX14 (S1209fs +2 more)	Deletion (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 1244242	NM_031272.5(TEX14):c.3549C>A (p.Cys1183Ter)	TEX14 (C1183* +2 more)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 1244245	NM_031272.5(TEX14):c.3482_3486del (p.Pro1161fs)	TEX14 (P1161fs +2 more)	Deletion (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 1244239	NM_031272.5(TEX14):c.3168C>A (p.Tyr1056Ter)	TEX14 (Y1056* +1 more)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 1244240	NM_031272.5(TEX14):c.2944C>T (p.Gln982Ter)	TEX14 (Q982* +1 more)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 1244238	NM_031272.5(TEX14):c.1490T>C (p.Leu497Pro)	TEX14 (L497P +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 708130	NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter)	TEX14 (R341* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 684771	NM_031272.5(TEX14):c.709C>G (p.Gln237Glu)	TEX14 (Q237E +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 23 +2 more	GConflicting classifications of pathogenicity
Select item 1244243	NM_031272.5(TEX14):c.247A>C (p.Asn83His)	TEX14 (N83H)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance