ClinVar for MedGen (Select 5796) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061777	NM_004959.5(NR5A1):c.908G>A (p.Ser303Asn)	NR5A1 (S303N)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic
Select item 3061776	NM_004959.5(NR5A1):c.808G>A (p.Asp270Asn)	NR5A1 (D270N)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic
Select item 3061775	NM_000044.6(AR):c.2360G>A (p.Arg787Gln)	AR (R255Q +2 more)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic
Select item 3061774	NM_000044.6(AR):c.2059T>C (p.Cys687Arg)	AR (C155R +2 more)	Single nucleotide variant (missense variant)	Male infertility	GPathogenic
Select item 3061773	NM_000044.6(AR):c.1852C>T (p.Arg618Trp)	AR (R618W +2 more)	Single nucleotide variant (missense variant +1 more)	Male infertility	GLikely pathogenic
Select item 3061772	NM_000044.6(AR):c.1244A>G (p.His415Arg)	AR (H415R)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061771	NM_000044.6(AR):c.1223A>G (p.Tyr408Cys)	AR (Y408C)	Single nucleotide variant (missense variant +1 more)	Male infertility +1 more	GUncertain significance
Select item 3061770	NM_000044.6(AR):c.1141C>T (p.Pro381Ser)	AR (P381S)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061769	NM_000044.6(AR):c.1005C>G (p.Ser335Arg)	AR (S335R)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061768	NM_000044.6(AR):c.937A>G (p.Lys313Glu)	AR (K313E)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061767	NM_000044.6(AR):c.277G>A (p.Glu93Lys)	AR (E93K)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 2934814	NM_004959.5(NR5A1):c.1379A>C (p.Gln460Pro)	NR5A1 (Q460P)	Single nucleotide variant (missense variant)	Male infertility +2 more	GUncertain significance
Select item 2932347	NM_000044.6(AR):c.2481C>A (p.Phe827Leu)	AR (F295L +2 more)	Single nucleotide variant (missense variant)	AR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2572770	NM_000044.6(AR):c.2270A>G (p.Asn757Ser)	AR (N225S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1711131	NM_032132.5(HORMAD1):c.1021C>T (p.Gln341Ter)	HORMAD1 (Q334* +1 more)	Single nucleotide variant (nonsense)	Male infertility	GPathogenic
Select item 1684035	NM_003602.5(FKBP6):c.469-2A>T	FKBP6	Single nucleotide variant (splice acceptor variant +1 more)	Male infertility	GLikely pathogenic
Select item 1684034	NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter)	FKBP6 (R233* +3 more)	Single nucleotide variant (nonsense)	Male infertility	GLikely pathogenic
Select item 1684033	NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)	FKBP6 (F147fs +2 more)	Duplication (frameshift variant +1 more)	Male infertility	GPathogenic
Select item 1684032	NM_003602.5(FKBP6):c.589-2A>G	FKBP6	Single nucleotide variant (splice acceptor variant)	Male infertility	GPathogenic
Select item 1683495	NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter)	FKBP6 (R159* +3 more)	Single nucleotide variant (nonsense)	Male infertility	GLikely pathogenic
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 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 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 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 1205841	NM_000044.6(AR):c.814C>T (p.Leu272Phe)	AR (L272F)	Single nucleotide variant (missense variant +1 more)	Male infertility +2 more	GConflicting classifications of pathogenicity
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 1111512	NM_004959.5(NR5A1):c.493G>C (p.Gly165Arg)	NR5A1 (G165R)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +3 more	GConflicting classifications of pathogenicity
Select item 996331	NM_145292.4(GALNTL5):c.153dup (p.Val52fs)	GALNTL5 (V52fs)	Duplication (frameshift variant +1 more)	Male infertility	GLikely pathogenic
Select item 982514	NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser)	BRWD1 (L339S)	Single nucleotide variant (missense variant)	Male infertility +3 more	GUncertain significance
Select item 982437	NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	BRWD1 (Q1858L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 51 +5 more	GPathogenic/Likely pathogenic
Select item 982436	NM_033656.4(BRWD1):c.523C>T (p.His175Tyr)	BRWD1 (H175Y)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 51 +5 more	GConflicting classifications of pathogenicity
Select item 982435	NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser)	BRWD1, LOC130066680 (G56S)	Single nucleotide variant (missense variant)	Male infertility +4 more	GUncertain significance
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 981141	NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)	NR5A1 (V355M)	Single nucleotide variant (missense variant)	Male infertility +3 more	GConflicting classifications of pathogenicity
Select item 978011	NM_018417.6(ADCY10):c.366T>A (p.Cys122Ter)	ADCY10, DCAF6 (C122* +1 more)	Single nucleotide variant (nonsense +1 more)	Male infertility	GUncertain significance
Select item 978010	NM_001369775.2(KLK14):c.652G>A (p.Val218Met)	KLK14 (V218M)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 978009	NM_172095.4(CATSPER2):c.842+1G>C	CATSPER2, LOC130056949	Single nucleotide variant (splice donor variant)	Male infertility	GUncertain significance
Select item 978008	NM_001372106.1(DNAH10):c.3575A>G (p.Asn1192Ser)	DNAH10 (N1074S +1 more)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 978007	NM_001372106.1(DNAH10):c.3868C>T (p.Leu1290Phe)	DNAH10 (L1172F +1 more)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 978006	NM_001372106.1(DNAH10):c.11308G>A (p.Ala3770Thr)	DNAH10, LOC126861667 (A3652T +1 more)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 978005	NM_004917.5(KLK4):c.680C>T (p.Pro227Leu)	KLK4 (P132L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 978004	NM_001372106.1(DNAH10):c.10528C>G (p.Pro3510Ala)	DNAH10 (P3392A +1 more)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 978003	NM_017950.4(CCDC40):c.1945T>C (p.Phe649Leu)	CCDC40 (F649L)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 978002	NM_001143.2(AMELY):c.574-1G>A	AMELY	Single nucleotide variant (splice acceptor variant)	Male infertility	GUncertain significance
Select item 978001	NM_145292.4(GALNTL5):c.1256G>C (p.Arg419Pro)	GALNTL5 (R419P)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 978000	NM_001277115.2(DNAH11):c.5805G>C (p.Leu1935Phe)	DNAH11 (L1935F)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 870528	GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0	BPY2, BPY2B +43 more	Copy number loss	Male infertility	GPathogenic
Select item 870527	GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0	BPY2, BPY2B +46 more	Copy number loss	Male infertility	GPathogenic
Select item 870526	GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0	RBMY1A1, RBMY1B +32 more	Copy number loss	Male infertility	GPathogenic
Select item 870525	GRCh37/hg19 Yq11.21-11.221(chrY:14443478-15230544)x0	DDX3Y, TTTY15 +1 more	Copy number loss	Male infertility	GPathogenic
Select item 870522	GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0	BPY2, BPY2B +15 more	Copy number loss	Male infertility	GPathogenic
Select item 870521	GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0	CDY2A, DDX3Y +23 more	Copy number loss	Male infertility	GPathogenic
Select item 870520	GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0	BPY2, BPY2B +38 more	Copy number loss	Male infertility	GPathogenic
Select item 870519	GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0	BPY2, BPY2B +38 more	Copy number loss	Male infertility	GPathogenic
Select item 870518	GRCh37/hg19 Yq11.223-11.23(chrY:24770884-28355431)x0	BPY2, BPY2B +14 more	Copy number loss	Male infertility	GPathogenic
Select item 870515	GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0	BPY2, BPY2B +23 more	Copy number loss	Male infertility	GPathogenic
Select item 870514	GRCh37/hg19 Yq11.223(chrY:23231720-23373561)x0		Copy number loss	Male infertility	GUncertain significance
Select item 870513	GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28341390)x0	BPY2, BPY2B +15 more	Copy number loss	Male infertility	GPathogenic
Select item 870512	GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0	BPY2, BPY2B +37 more	Copy number loss	Male infertility	GPathogenic
Select item 869113	NM_001177949.2(SYCP3):c.241A>C (p.Ile81Leu)	SYCP3 (I81L)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 812722	NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys)	SOX30 (S212C +1 more)	Single nucleotide variant (missense variant +1 more)	Male infertility	GLikely pathogenic
Select item 812721	NM_018076.5(ODAD2):c.2097+1G>A	ODAD2	Single nucleotide variant (splice donor variant)	Male infertility +1 more	GPathogenic
Select item 812720	NM_018076.5(ODAD2):c.2765G>A (p.Gly922Glu)	ODAD2 (G447E +2 more)	Single nucleotide variant (missense variant)	Male infertility +1 more	GLikely pathogenic
Select item 812589	NM_001136046.3(ZMYND15):c.2057+6G>T	ZMYND15	Single nucleotide variant (intron variant)	Male infertility +1 more	GUncertain significance
Select item 807738	NM_000044.6(AR):c.1723C>G (p.Leu575Val)	AR (L575V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 804019	NM_000044.6(AR):c.1424C>T (p.Ala475Val)	AR (A475V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 522694	NM_000044.6(AR):c.1513C>A (p.Pro505Thr)	AR (P505T)	Single nucleotide variant (missense variant +1 more)	Male infertility +1 more	GConflicting classifications of pathogenicity
Select item 492777	NM_000044.6(AR):c.475G>A (p.Ala159Thr)	AR (A159T)	Single nucleotide variant (missense variant +1 more)	Kennedy disease +2 more	GConflicting classifications of pathogenicity
Select item 488651	NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg)	CLDN2 (G161R)	Single nucleotide variant (missense variant)	Azoospermia, obstructive, with nephrolithiasis +1 more	GPathogenic
Select item 454644	NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)	DNAH11 (P3935L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 402390	NM_000044.6(AR):c.173A>T (p.Gln58Leu)	LOC109504725, AR (Q58L)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 374019	NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	HOXD13 (R274*)	Single nucleotide variant (nonsense)	Synpolydactyly +13 more	GPathogenic/Likely pathogenic
Select item 305454	NM_053054.4(CATSPER1):c.-25del	CATSPER1	Deletion (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 305453	NM_053054.4(CATSPER1):c.-23del	CATSPER1	Deletion (5 prime UTR variant)	Male infertility	GUncertain significance
Select item 305418	NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met)	CATSPER1 (T703M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 305413	NM_053054.4(CATSPER1):c.*122AG[1]	CATSPER1	Microsatellite (3 prime UTR variant)	Male infertility	GUncertain significance
Select item 268031	46;XY;t(7;12)(q21;q21)dn		Translocation	Male infertility	GUncertain significance
Select item 267936	46;XY;t(12;14)(q15;q13)mat		Translocation	Attention deficit hyperactivity disorder +14 more	GUncertain significance
Select item 267893	46;XY;t(20;22)(q13.3;q11.2)		Translocation	Attention deficit hyperactivity disorder +5 more	GUncertain significance
Select item 260979	NM_017950.4(CCDC40):c.850G>C (p.Asp284His)	CCDC40 (D284H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220581	NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)	DNAH5 (K1853*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 216677	NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)	DNAI1 (R650C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 45153	NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)	MYO6 (R1059T +1 more)	Single nucleotide variant (missense variant +1 more)	Infertility disorder +6 more	GConflicting classifications of pathogenicity
Select item 35867	NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	CFTR (D1152H)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 9861	NM_000044.6(AR):c.1937C>A (p.Ala646Asp)	AR (A114D +1 more)	Single nucleotide variant (missense variant)	Kennedy disease +5 more	GConflicting classifications of pathogenicity
Select item 9846	NM_000044.6(AR):c.2395C>G (p.Gln799Glu)	AR (Q267E +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 9823	NM_000044.6(AR):c.2567G>A (p.Arg856His)	AR (R856H +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GPathogenic/Likely pathogenic

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Items: 87