ClinVar for MedGen (Select 1646677) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 31

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24423121.	NM_001350162.2(TEX15):c.3958C>T (p.Arg1320Ter) GRCh37: Chr8:30703725 GRCh38: Chr8:30846209	TEX15	R1320, R937	Spermatogenic failure 25	Likely pathogenic (Dec 30, 2022)	criteria provided, single submitter
Select item 24423112.	NM_001350162.2(TEX15):c.4119C>A (p.Ser1373Arg) GRCh37: Chr8:30703564 GRCh38: Chr8:30846048	TEX15	S1373R, S990R	Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 24423103.	NM_001350162.2(TEX15):c.2549G>T (p.Trp850Leu) GRCh37: Chr8:30705134 GRCh38: Chr8:30847618	TEX15	W467L, W850L	Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 24423094.	NM_001350162.2(TEX15):c.8806T>C (p.Ser2936Pro) GRCh37: Chr8:30694994 GRCh38: Chr8:30837478	TEX15	S2553P, S2936P	Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 24423085.	NM_001350162.2(TEX15):c.1774A>G (p.Ile592Val) GRCh37: Chr8:30705909 GRCh38: Chr8:30848393	TEX15	I209V, I592V	Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 24423076.	NM_001350162.2(TEX15):c.1624A>T (p.Ile542Phe) GRCh37: Chr8:30706059 GRCh38: Chr8:30848543	TEX15	I159F, I542F	Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 24423047.	NM_001350162.2(TEX15):c.3953T>C (p.Leu1318Ser) GRCh37: Chr8:30703730 GRCh38: Chr8:30846214	TEX15	L1318S, L935S	Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 24423038.	NM_001350162.2(TEX15):c.5315G>A (p.Cys1772Tyr) GRCh37: Chr8:30702368 GRCh38: Chr8:30844852	TEX15	C1389Y, C1772Y	Spermatogenic failure 25	Likely benign (Dec 30, 2022)	criteria provided, single submitter
Select item 24423029.	NM_001350162.2(TEX15):c.6127G>A (p.Glu2043Lys) GRCh37: Chr8:30701556 GRCh38: Chr8:30844040	TEX15	E1660K, E2043K	Spermatogenic failure 25	Likely benign (Dec 30, 2022)	criteria provided, single submitter
Select item 244230110.	NM_001350162.2(TEX15):c.6848_6849del (p.Arg2283fs) GRCh37: Chr8:30700834-30700835 GRCh38: Chr8:30843318-30843319	TEX15	R2283fs	not provided, Spermatogenic failure 25	Pathogenic/Likely pathogenic (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 244230011.	NM_001350162.2(TEX15):c.2441C>T (p.Pro814Leu) GRCh37: Chr8:30705242 GRCh38: Chr8:30847726	TEX15	P431L, P814L	Spermatogenic failure 25, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 21, 2023)	criteria provided, conflicting interpretations
Select item 244229912.	NM_001350162.2(TEX15):c.6118T>G (p.Cys2040Gly) GRCh37: Chr8:30701565 GRCh38: Chr8:30844049	TEX15	C1657G, C2040G	Spermatogenic failure 25	Likely pathogenic (Dec 30, 2022)	criteria provided, single submitter
Select item 244229813.	NM_001350162.2(TEX15):c.8164-17G>A GRCh37: Chr8:30697497 GRCh38: Chr8:30839981	TEX15		Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 244229714.	NM_001350162.2(TEX15):c.7414C>T (p.Arg2472Ter) GRCh37: Chr8:30700269 GRCh38: Chr8:30842753	TEX15	R2089, R2472	Spermatogenic failure 25	Pathogenic (Dec 30, 2022)	criteria provided, single submitter
Select item 244229615.	NM_001350162.2(TEX15):c.6823G>A (p.Ala2275Thr) GRCh37: Chr8:30700860 GRCh38: Chr8:30843344	TEX15	A1892T, A2275T	Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 244229516.	NM_001350162.2(TEX15):c.6874_6877del (p.Ser2292fs) GRCh37: Chr8:30700806-30700809 GRCh38: Chr8:30843290-30843293	TEX15	S2292fs	Spermatogenic failure 25	Likely pathogenic (Dec 30, 2022)	criteria provided, single submitter
Select item 244229417.	NM_001350162.2(TEX15):c.5590G>C (p.Glu1864Gln) GRCh37: Chr8:30702093 GRCh38: Chr8:30844577	TEX15	E1481Q, E1864Q	Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 244229318.	NM_001350162.2(TEX15):c.688-6T>C GRCh37: Chr8:30716352 GRCh38: Chr8:30858836	TEX15		Spermatogenic failure 25	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 243704719.	NM_001350162.2(TEX15):c.933C>G (p.Phe311Leu) GRCh37: Chr8:30706750 GRCh38: Chr8:30849234	TEX15	F311L	Spermatogenic failure 25	Uncertain significance (May 19, 2021)	criteria provided, single submitter
Select item 236276920.	NM_001350162.2(TEX15):c.2672A>T (p.His891Leu) GRCh37: Chr8:30705011 GRCh38: Chr8:30847495	TEX15	H508L, H891L	Inborn genetic diseases, Spermatogenic failure 25	Conflicting interpretations of pathogenicity (Dec 30, 2022)	criteria provided, conflicting interpretations
Select item 133909221.	NM_001350162.2(TEX15):c.1261G>A (p.Gly421Ser) GRCh37: Chr8:30706422 GRCh38: Chr8:30848906	TEX15	G421S	Spermatogenic failure 25	Uncertain significance	criteria provided, single submitter
Select item 117688122.	NM_001350162.2(TEX15):c.3838A>G (p.Thr1280Ala) GRCh37: Chr8:30703845 GRCh38: Chr8:30846329	TEX15	T1280A	Spermatogenic failure 25, Inborn genetic diseases, not provided	Uncertain significance (Dec 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117688023.	NM_001350162.2(TEX15):c.4944C>G (p.Asp1648Glu) GRCh37: Chr8:30702739 GRCh38: Chr8:30845223	TEX15	D1648E	not provided, Spermatogenic failure 25	Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103094224.	NM_001350162.2(TEX15):c.3323T>C (p.Leu1108Pro) GRCh37: Chr8:30704360 GRCh38: Chr8:30846844	TEX15	L1108P	Spermatogenic failure 25	Uncertain significance (Dec 9, 2019)	criteria provided, single submitter
Select item 77742025.	NM_001350162.2(TEX15):c.8838T>G (p.Ile2946Met) GRCh37: Chr8:30694962 GRCh38: Chr8:30837446	TEX15	I2946M	Spermatogenic failure 25, not provided	Conflicting interpretations of pathogenicity (Dec 30, 2022)	criteria provided, conflicting interpretations
Select item 71206026.	NM_001350162.2(TEX15):c.4945G>A (p.Val1649Ile) GRCh37: Chr8:30702738 GRCh38: Chr8:30845222	TEX15	V1649I	not provided, Spermatogenic failure 25	Conflicting interpretations of pathogenicity (Dec 30, 2022)	criteria provided, conflicting interpretations
Select item 70879127.	NM_001350162.2(TEX15):c.3563C>T (p.Ala1188Val) GRCh37: Chr8:30704120 GRCh38: Chr8:30846604	TEX15	A1188V	not provided, Spermatogenic failure 25	Conflicting interpretations of pathogenicity (Dec 30, 2022)	criteria provided, conflicting interpretations
Select item 52323128.	NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter) GRCh37: Chr8:30699600 GRCh38: Chr8:30842084	TEX15	R2695*	Spermatogenic failure 25	Pathogenic (May 4, 2018)	no assertion criteria provided
Select item 52323029.	NM_001350162.2(TEX15):c.4189del (p.Ser1397fs) GRCh37: Chr8:30703494 GRCh38: Chr8:30845978	TEX15	S1397fs	Spermatogenic failure 25	Pathogenic (May 4, 2018)	no assertion criteria provided
Select item 52322930.	NM_001350162.2(TEX15):c.3568A>T (p.Lys1190Ter) GRCh37: Chr8:30704115 GRCh38: Chr8:30846599	TEX15	K1190*	Spermatogenic failure 25	Pathogenic (May 4, 2018)	no assertion criteria provided
Select item 19003631.	NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter) GRCh37: Chr8:30704404 GRCh38: Chr8:30846888	TEX15	Y1093*	Oligosynaptic infertility	Pathogenic	criteria provided, single submitter

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 31