ClinVar for MedGen (Select 866757) - ClinVar

Links from MedGen

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236169	NM_144696.6(AXDND1):c.937C>T (p.Arg313Ter)	AXDND1 (R313*)	Single nucleotide variant (nonsense +1 more)	Non-obstructive azoospermia	GLikely pathogenic
Select item 2429754	NM_004660.5(DDX3Y):c.1609+1del	DDX3Y	Deletion (splice donor variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 2429753	NM_004660.5(DDX3Y):c.1272dup (p.Lys425Ter)	DDX3Y (K422* +1 more)	Duplication (nonsense +1 more)	Non-obstructive azoospermia	GLikely pathogenic
Select item 2429752	NM_004660.5(DDX3Y):c.1230_1231del (p.Asn412fs)	DDX3Y (N409fs +1 more)	Deletion (frameshift variant +1 more)	Non-obstructive azoospermia	GLikely pathogenic
Select item 2429751	NM_004660.5(DDX3Y):c.428dup (p.Glu145fs)	DDX3Y (E142fs +1 more)	Duplication (frameshift variant +1 more)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1344502	NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs)	MOV10L1 (P1012fs +2 more)	Deletion (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 1344501	NM_018995.3(MOV10L1):c.2542G>A (p.Gly848Arg)	MOV10L1 (G828R +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 1344500	NM_018995.3(MOV10L1):c.2447G>T (p.Ser816Ile)	MOV10L1 (S796I +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1343778	NM_001271862.2(PNLDC1):c.1174G>A (p.Glu392Lys)	PNLDC1 (E381K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343413	NM_001271862.2(PNLDC1):c.1459C>T (p.Arg487Trp)	PNLDC1 (R476W +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 1330303	NM_001271862.2(PNLDC1):c.743G>A (p.Gly248Asp)	PNLDC1 (G237D +1 more)	Single nucleotide variant (missense variant)	Oligospermia +1 more	GLikely pathogenic
Select item 1285393	NM_001350162.2(TEX15):c.5170G>A (p.Ala1724Thr)	TEX15 (A1724T)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 1244253	NM_004959.5(NR5A1):c.1079C>T (p.Ala360Val)	NR5A1 (A360V)	Single nucleotide variant (missense variant)	Male infertility +1 more	GConflicting classifications of pathogenicity
Select item 1244252	NM_052957.5(GCNA):c.343del (p.Ala115fs)	GCNA (A115fs)	Deletion (frameshift variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1244251	NM_021951.3(DMRT1):c.344T>A (p.Met115Lys)	DMRT1 (M115K)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1244249	NM_001136046.3(ZMYND15):c.931C>T (p.Arg311Ter)	ZMYND15 (R311*)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 1244248	NM_001350162.2(TEX15):c.7777A>G (p.Thr2593Ala)	TEX15 (T2593A)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 1244247	NM_001350162.2(TEX15):c.8197_8198del (p.Glu2733fs)	TEX15 (E2733fs)	Microsatellite (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 1244246	NM_001350162.2(TEX15):c.9448C>T (p.Arg3150Ter)	TEX15 (R3150*)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GUncertain significance
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 1244244	NM_000044.6(AR):c.2486A>T (p.Asp829Val)	AR (D297V +1 more)	Single nucleotide variant (missense variant)	Male infertility +1 more	GPathogenic
Select item 1244243	NM_031272.5(TEX14):c.247A>C (p.Asn83His)	TEX14 (N83H)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
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 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 1244240	NM_031272.5(TEX14):c.2944C>T (p.Gln982Ter)	TEX14 (Q982* +1 more)	Single nucleotide variant (nonsense)	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 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 1244237	NM_031272.5(TEX14):c.3625_3628del (p.Ser1209fs)	TEX14 (S1209fs +2 more)	Deletion (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 1244236	NM_152448.3(TERB2):c.434G>A (p.Ser145Asn)	TERB2 (S145N)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1244235	NM_001136505.2(TERB1):c.1703C>G (p.Ser568Ter)	TERB1 (S568*)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 1244234	NM_000044.6(AR):c.1792A>G (p.Ser598Gly)	AR (Q570R +2 more)	Single nucleotide variant (missense variant)	Male infertility +4 more	GConflicting classifications of pathogenicity
Select item 1244233	NM_012444.3(SPO11):c.744G>A (p.Thr248=)	SPO11	Single nucleotide variant (synonymous variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1244232	NM_001378211.1(SHOC1):c.1277_1278del (p.Glu426fs)	SHOC1 (E323fs +2 more)	Microsatellite (frameshift variant +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 1244231	NM_001131034.4(RNF212):c.247-2703_247-2702del	RNF212 (R240fs)	Deletion (frameshift variant +1 more)	Non-obstructive azoospermia	GUncertain significance
Select item 1244230	NM_001384355.1(RAD21L1):c.85A>T (p.Lys29Ter)	RAD21L1 (K29*)	Single nucleotide variant (nonsense +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 1244229	NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)	NR5A1 (D238N)	Single nucleotide variant (missense variant)	46,XY sex reversal 3 +6 more	GConflicting classifications of pathogenicity
Select item 1244228	NM_001145400.2(ADAD2):c.515_516insA (p.Leu173fs)	ADAD2, LOC126862424 +1 more (L173fs +1 more)	Insertion (frameshift variant +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 1210148	NM_031276.3(TEX11):c.812del (p.Lys271fs)	TEX11 (K271fs +1 more)	Deletion (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 1210147	NM_031276.3(TEX11):c.253del (p.Val85fs)	TEX11 (V100fs +1 more)	Deletion (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 1210146	NM_031276.3(TEX11):c.1208dup (p.Asn403fs)	TEX11 (N403fs +1 more)	Duplication (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 1210145	NM_031276.3(TEX11):c.1006G>T (p.Glu336Ter)	TEX11 (E336* +1 more)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 1210144	NM_031276.3(TEX11):c.2568G>T (p.Trp856Cys)	TEX11 (W856C +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GPathogenic
Select item 1210143	NM_031276.3(TEX11):c.1381-1G>A	TEX11	Single nucleotide variant (splice acceptor variant)	Non-obstructive azoospermia	GPathogenic
Select item 1210142	NM_031276.3(TEX11):c.1751+2T>G	TEX11	Single nucleotide variant (splice donor variant)	Non-obstructive azoospermia	GPathogenic
Select item 1180854	NM_052957.5(GCNA):c.1180G>T (p.Glu394Ter)	GCNA (E394*)	Single nucleotide variant (nonsense)	Spermatogenic failure, X-linked, 4 +1 more	GPathogenic
Select item 1167626	NM_000044.6(AR):c.1301C>T (p.Ser434Phe)	AR (S434F)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1077005	NM_172166.4(MSH5):c.964C>T (p.Arg322Cys)	MSH5, MSH5-SAPCD1 (R322C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1048097	NM_001282717.2(STAG3):c.1942G>A (p.Ala648Thr)	STAG3 (A590T +1 more)	Single nucleotide variant (missense variant +1 more)	Non-obstructive azoospermia +1 more	GUncertain significance
Select item 1048096	NM_001282717.2(STAG3):c.1953_1955del (p.Leu652del)	STAG3 (L594del +1 more)	Deletion (inframe_deletion +1 more)	Premature ovarian insufficiency +1 more	GLikely pathogenic
Select item 1013608	NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs)	ZSWIM7 (C78fs)	Deletion (frameshift variant)	Ovarian dysgenesis 10	GLikely pathogenic
Select item 996349	NM_001039111.3(TRIM71):c.1789G>A (p.Gly597Ser)	TRIM71 (G597S)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1 +1 more	GConflicting classifications of pathogenicity
Select item 996348	NM_001039111.3(TRIM71):c.1613C>G (p.Ala538Gly)	TRIM71 (A538G)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 996347	NM_001039111.3(TRIM71):c.1549C>T (p.Arg517Cys)	TRIM71 (R517C)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 996346	NM_001039111.3(TRIM71):c.1486C>T (p.Arg496Cys)	TRIM71 (R496C)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 996344	NM_001039111.3(TRIM71):c.803T>A (p.Leu268His)	TRIM71 (L268H)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 996343	NM_001039111.3(TRIM71):c.785G>C (p.Gly262Ala)	TRIM71 (G262A)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely benign
Select item 996342	NM_001039111.3(TRIM71):c.553G>T (p.Ala185Ser)	TRIM71 (A185S)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely benign
Select item 996339	NM_001039111.3(TRIM71):c.224_240dup (p.Gly81fs)	TRIM71 (G81fs)	Duplication (frameshift variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 992891	NM_172166.4(MSH5):c.1857del (p.Ala620fs)	MSH5, MSH5-SAPCD1 (A620fs +1 more)	Deletion (non-coding transcript variant +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 992890	NM_172166.4(MSH5):c.75dup (p.Ser26fs)	MSH5, MSH5-SAPCD1 (S26fs)	Duplication (frameshift variant +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 992889	NM_002440.4(MSH4):c.2198C>A (p.Ser733Ter)	MSH4 (S733*)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GLikely pathogenic
Select item 992888	NM_002440.4(MSH4):c.1686del (p.Lys562_Val563insTer)	MSH4	Deletion (frameshift variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 992887	NM_002440.4(MSH4):c.1453C>T (p.Gln485Ter)	MSH4 (Q485*)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GLikely pathogenic
Select item 992824	NM_174978.3(C14orf39):c.1180-3C>G	C14orf39	Single nucleotide variant (intron variant)	Spermatogenic failure 52 +1 more	GPathogenic
Select item 992823	NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter)	C14orf39 (E320*)	Single nucleotide variant (nonsense)	Spermatogenic failure 52 +1 more	GPathogenic
Select item 992822	NM_174978.3(C14orf39):c.204_205del (p.His68fs)	C14orf39 (H68fs)	Deletion (frameshift variant)	Spermatogenic failure 52 +3 more	GPathogenic
Select item 981142	NM_004959.5(NR5A1):c.1052C>T (p.Ala351Val)	NR5A1 (A351V)	Single nucleotide variant (missense variant)	Male infertility +1 more	GPathogenic/Likely pathogenic
Select item 975854	NM_001321739.2(M1AP):c.797G>A (p.Arg266Gln)	M1AP (R266Q)	Single nucleotide variant (missense variant)	Cryptozoospermia +1 more	GUncertain significance
Select item 869115	NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu)	MSH4 (S754L)	Single nucleotide variant (missense variant)	Oligospermia +2 more	GPathogenic/Likely pathogenic
Select item 810691	NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys)	FOXP3 (Q196K +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GPathogenic
Select item 805834	NM_001321739.2(M1AP):c.1166C>T (p.Pro389Leu)	M1AP (P389L)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 805833	NM_001321739.2(M1AP):c.148T>C (p.Ser50Pro)	M1AP (S50P)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 805832	NM_001321739.2(M1AP):c.1289T>C (p.Leu430Pro)	M1AP (L430P)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 805831	NM_001321739.2(M1AP):c.949G>A (p.Gly317Arg)	M1AP (G317R)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 805830	NM_001321739.2(M1AP):c.676dup (p.Trp226fs)	M1AP (W226fs)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 712945	NM_014009.4(FOXP3):c.155G>T (p.Gly52Val)	FOXP3 (G52V)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +2 more	GBenign/Likely benign
Select item 708130	NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter)	TEX14 (R341* +1 more)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia +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)	Non-obstructive azoospermia +2 more	GConflicting classifications of pathogenicity
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 684769	NM_001350162.2(TEX15):c.7118G>A (p.Ser2373Asn)	TEX15 (S2373N)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GBenign/Likely benign
Select item 684768	NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)	TEX15 (G3075R)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GConflicting classifications of pathogenicity
Select item 684737	NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr)	KLHL10 (I208T +1 more)	Single nucleotide variant (missense variant)	KLHL10-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 684736	NM_152467.5(KLHL10):c.242A>T (p.Asn81Ile)	KLHL10 (N81I)	Single nucleotide variant (missense variant +1 more)	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 684734	NM_014940.4(MON1B):c.*1165C>G	MON1B, SYCE1L (L8V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 684733	NM_001048205.2(REC8):c.91C>T (p.Arg31Cys)	REC8 (R31C)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 684732	NM_001350162.1:c.9223G>A(;)7118G>A	TEX15 (G3075R +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 666298	NM_004959.5(NR5A1):c.990G>A (p.Glu330=)	NR5A1	Single nucleotide variant (synonymous variant)	Non-obstructive azoospermia +1 more	GLikely pathogenic
Select item 633614	NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs)	SYCP2 (K1023fs)	Deletion (frameshift variant)	Spermatocyte maturation arrest +1 more	GPathogenic/Likely pathogenic
Select item 633613	NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs)	SYCP2 (K674fs)	Microsatellite (frameshift variant)	Non-obstructive azoospermia +1 more	GPathogenic/Likely pathogenic
Select item 633612	NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs)	SYCP2 (K932fs)	Deletion (frameshift variant)	Non-obstructive azoospermia +1 more	GPathogenic/Likely pathogenic
Select item 617740	NM_001282717.2(STAG3):c.1312C>T (p.Arg438Ter)	STAG3 (R438* +1 more)	Single nucleotide variant (nonsense)	Spermatogenesis maturation arrest +1 more	GLikely pathogenic
Select item 617739	NM_001282717.2(STAG3):c.1262T>G (p.Leu421Arg)	STAG3 (L421R +1 more)	Single nucleotide variant (missense variant)	Spermatogenesis maturation arrest +1 more	GLikely pathogenic
Select item 243009	NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)	LOC130001446, DMRT1 (N224S +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GConflicting classifications of pathogenicity
Select item 242856	NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala)	NPAS2, NPAS2-AS1 (P455A)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 156588	NM_017696.3(MCM9):c.394C>T (p.Arg132Ter)	MCM9 (R132* +1 more)	Single nucleotide variant (nonsense +1 more)	Non-obstructive azoospermia +1 more	GPathogenic/Likely pathogenic
Select item 6734	NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)	DNMT3B (V810M +5 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GConflicting classifications of pathogenicity

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Items: 97