ClinVar for MedGen (Select 1646677) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234971	NM_001350162.2(TEX15):c.6869_6872del (p.Lys2290fs)	TEX15 (K2290fs)	Deletion (frameshift variant)	Spermatogenic failure 25	GLikely pathogenic
Select item 3064769	NM_001350162.2(TEX15):c.2134C>T (p.Gln712Ter)	TEX15 (Q329* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 25	GLikely pathogenic
Select item 2442312	NM_001350162.2(TEX15):c.3958C>T (p.Arg1320Ter)	TEX15 (R1320* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2442311	NM_001350162.2(TEX15):c.4119C>A (p.Ser1373Arg)	TEX15 (S1373R +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442310	NM_001350162.2(TEX15):c.2549G>T (p.Trp850Leu)	TEX15 (W467L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442309	NM_001350162.2(TEX15):c.8806T>C (p.Ser2936Pro)	TEX15 (S2553P +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442308	NM_001350162.2(TEX15):c.1774A>G (p.Ile592Val)	TEX15 (I209V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442307	NM_001350162.2(TEX15):c.1624A>T (p.Ile542Phe)	TEX15 (I159F +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442304	NM_001350162.2(TEX15):c.3953T>C (p.Leu1318Ser)	TEX15 (L1318S +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442303	NM_001350162.2(TEX15):c.5315G>A (p.Cys1772Tyr)	TEX15 (C1389Y +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GLikely benign
Select item 2442302	NM_001350162.2(TEX15):c.6127G>A (p.Glu2043Lys)	TEX15 (E1660K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GLikely benign
Select item 2442301	NM_001350162.2(TEX15):c.6848_6849del (p.Arg2283fs)	TEX15 (R2283fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2442300	NM_001350162.2(TEX15):c.2441C>T (p.Pro814Leu)	TEX15 (P431L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2442299	NM_001350162.2(TEX15):c.6118T>G (p.Cys2040Gly)	TEX15 (C1657G +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GLikely pathogenic
Select item 2442298	NM_001350162.2(TEX15):c.8164-17G>A	TEX15	Single nucleotide variant (intron variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442297	NM_001350162.2(TEX15):c.7414C>T (p.Arg2472Ter)	TEX15 (R2089* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 25	GPathogenic
Select item 2442296	NM_001350162.2(TEX15):c.6823G>A (p.Ala2275Thr)	TEX15 (A1892T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442295	NM_001350162.2(TEX15):c.6874_6877del (p.Ser2292fs)	TEX15 (S2292fs)	Deletion (frameshift variant)	Spermatogenic failure 25	GLikely pathogenic
Select item 2442294	NM_001350162.2(TEX15):c.5590G>C (p.Glu1864Gln)	TEX15 (E1481Q +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2442293	NM_001350162.2(TEX15):c.688-6T>C	TEX15	Single nucleotide variant (intron variant)	Spermatogenic failure 25	GUncertain significance
Select item 2437047	NM_001350162.2(TEX15):c.933C>G (p.Phe311Leu)	TEX15 (F311L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2362769	NM_001350162.2(TEX15):c.2672A>T (p.His891Leu)	TEX15 (H508L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25 +1 more	GConflicting classifications of pathogenicity
Select item 1339092	NM_001350162.2(TEX15):c.1261G>A (p.Gly421Ser)	TEX15 (G421S)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 25	GUncertain significance
Select item 1176881	NM_001350162.2(TEX15):c.3838A>G (p.Thr1280Ala)	TEX15 (T1280A)	Single nucleotide variant (missense variant)	Spermatogenic failure 25 +2 more	GConflicting classifications of pathogenicity
Select item 1176880	NM_001350162.2(TEX15):c.4944C>G (p.Asp1648Glu)	TEX15 (D1648E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1030942	NM_001350162.2(TEX15):c.3323T>C (p.Leu1108Pro)	TEX15 (L1108P)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 777420	NM_001350162.2(TEX15):c.8838T>G (p.Ile2946Met)	TEX15 (I2946M)	Single nucleotide variant (missense variant)	Spermatogenic failure 25 +1 more	GConflicting classifications of pathogenicity
Select item 712060	NM_001350162.2(TEX15):c.4945G>A (p.Val1649Ile)	TEX15 (V1649I)	Single nucleotide variant (missense variant)	Spermatogenic failure 25 +1 more	GConflicting classifications of pathogenicity
Select item 708791	NM_001350162.2(TEX15):c.3563C>T (p.Ala1188Val)	TEX15 (A1188V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523231	NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter)	TEX15 (R2695*)	Single nucleotide variant (nonsense)	Spermatogenic failure 25	GPathogenic
Select item 523230	NM_001350162.2(TEX15):c.4189del (p.Ser1397fs)	TEX15 (S1397fs)	Deletion (frameshift variant)	Spermatogenic failure 25	GPathogenic
Select item 523229	NM_001350162.2(TEX15):c.3568A>T (p.Lys1190Ter)	TEX15 (K1190*)	Single nucleotide variant (nonsense)	Spermatogenic failure 25	GPathogenic
Select item 190036	NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter)	TEX15 (Y1093*)	Single nucleotide variant (nonsense)	Oligosynaptic infertility	GPathogenic

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Items: 33