ClinVar for MedGen (Select 2150) - ClinVar

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

Result Filters

Links from MedGen

Items: 23

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13289591.	NM_032485.6(MCM8):c.482A>C (p.His161Pro) GRCh37: Chr20:5935893 GRCh38: Chr20:5955247	MCM8	H161P	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 13289582.	NM_001163560.3(MEIOB):c.1118_1121del (p.Phe373fs) GRCh37: Chr16:1889353-1889356 GRCh38: Chr16:1839352-1839355	FAHD1, MEIOB	F373fs	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 13289573.	NM_001136505.2(TERB1):c.733G>A (p.Gly245Arg) GRCh37: Chr16:66812886 GRCh38: Chr16:66778983	TERB1	G245R	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 13289564.	NM_001102592.2(HENMT1):c.456C>G (p.Tyr152Ter) GRCh37: Chr1:109193774 GRCh38: Chr1:108651152	HENMT1	Y152*	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 13289555.	NM_001102592.2(HENMT1):c.226G>A (p.Gly76Arg) GRCh37: Chr1:109198245 GRCh38: Chr1:108655623	HENMT1	G76R	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 13289546.	NM_001083965.2(TDRKH):c.1003A>T (p.Lys335Ter) GRCh37: Chr1:151748956 GRCh38: Chr1:151776480	TDRKH	K290, K335	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 13289537.	NM_173518.5(MCMDC2):c.1795C>T (p.Arg599Ter) GRCh37: Chr8:67817486 GRCh38: Chr8:66905251	MCMDC2	R599*	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 13289528.	NM_001048205.2(REC8):c.860_861del (p.Pro287fs) GRCh37: Chr14:24646960-24646961 GRCh38: Chr14:24177754-24177755	REC8	P287fs	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 13289519.	NM_172166.4(MSH5):c.537+1G>A GRCh37: Chr6:31711803 GRCh38: Chr6:31744026	MSH5, MSH5-SAPCD1		Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 132895010.	NM_153046.3(TDRD9):c.3483_3484dup (p.Ser1162fs) GRCh37: Chr14:104498396-104498397 GRCh38: Chr14:104032059-104032060	TDRD9	S1162fs	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 132894911.	NM_144688.5(KASH5):c.1146+5G>A GRCh37: Chr19:49912545 GRCh38: Chr19:49409288	KASH5		Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 132894812.	NM_052957.5(GCNA):c.1507del (p.Glu504fs) GRCh37: ChrX:70828862 GRCh38: ChrX:71609012	GCNA	E504fs	Azoospermia, Spermatogenic failure, X-linked, 4	Pathogenic (Apr 11, 2022)	no assertion criteria provided
Select item 132894713.	NM_018995.3(MOV10L1):c.743+5G>A GRCh37: Chr22:50547278 GRCh38: Chr22:50108849	MOV10L1		Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 132894614.	NM_013264.5(DDX25):c.1129C>T (p.Arg377Ter) GRCh37: Chr11:125788613 GRCh38: Chr11:125918718	DDX25	R263, R377	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 132894515.	NM_007068.4(DMC1):c.860C>A (p.Pro287His) GRCh37: Chr22:38917706 GRCh38: Chr22:38521701	DMC1	P232H, P287H	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 132894416.	NM_007068.4(DMC1):c.364A>G (p.Thr122Ala) GRCh37: Chr22:38951377 GRCh38: Chr22:38555372	DMC1	T122A	Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 132894317.	NM_001017975.6(HFM1):c.3588+1G>A GRCh37: Chr1:91742184 GRCh38: Chr1:91276627	HFM1		Azoospermia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 99282218.	NM_174978.3(C14orf39):c.204_205del (p.His68fs) GRCh37: Chr14:60950437-60950438 GRCh38: Chr14:60483719-60483720	C14orf39	H68fs	Azoospermia, Non-obstructive azoospermia, Spermatogenic failure 52, Premature ovarian failure 18	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 56041619.	NM_153046.3(TDRD9):c.720_723del (p.Ser241fs) GRCh37: Chr14:104433119-104433122 GRCh38: Chr14:103966782-103966785	TDRD9	S241fs	Azoospermia, Spermatogenic failure 30	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 52638120.	NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) GRCh37: Chr14:45667921 GRCh38: Chr14:45198718	FANCM	R1931, R1905	Malignant germ cell tumor of ovary, Spermatogenic failure 28, not specified, Fanconi anemia, not provided, Familial cancer of breast, Hereditary nonpolyposis colorectal carcinoma	Conflicting interpretations of pathogenicity (Mar 22, 2023)	criteria provided, conflicting interpretations
Select item 44625121.	NM_005390.5(PDHA2):c.679A>G (p.Met227Val) GRCh37: Chr4:96761980 GRCh38: Chr4:95840829	PDHA2	M227V	Spermatogenic failure 70, Azoospermia, Oligosynaptic infertility	Pathogenic (Apr 6, 2022)	no assertion criteria provided
Select item 26793622.	46;XY;t(12;14)(q15;q13)mat			Attention deficit hyperactivity disorder, Syndactyly, Aphasia, Facial asymmetry, Azoospermia, Varicocele, Delayed fine motor development, Monocular strabismus, Abnormal facial shape, Delayed speech and language development, MicrotiaVisual impairment, Male infertility, Oligozoospermia, Upslanted palpebral fissure, ...see more	Uncertain significance (Aug 20, 2016)	criteria provided, single submitter
Select item 26780023.	46;XY;t(7;8)(p12.3;p11.2)dn			Oral cleft, Azoospermia, Testicular atrophy	Pathogenic (Aug 20, 2016)	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: 23