ClinVar for MedGen (Select 1842653) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690986	NM_032656.4(DHX37):c.2698A>G (p.Asn900Asp)	DHX37 (N900D)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690985	NM_032656.4(DHX37):c.2177dup (p.Thr727fs)	DHX37 (T727fs)	Duplication (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690984	NM_178470.5(DCAF12L1):c.406_407del (p.Leu136fs)	DCAF12L1 (L136fs)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690983	NM_001717.4(BNC1):c.1874_1875del (p.Pro625fs)	BNC1 (P618fs +1 more)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690982	NM_001717.4(BNC1):c.621_637del (p.Phe207fs)	BNC1 (F200fs +1 more)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690978	NM_000489.6(ATRX):c.2542G>T (p.Asp848Tyr)	ATRX (D810Y +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690974	NM_024426.6(WT1):c.451T>G (p.Trp151Gly)	LOC107982234, WT1 (W146G +1 more)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690973	NM_024426.6(WT1):c.1244T>A (p.Met415Lys)	WT1 (M161K +10 more)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690972	NM_006086.4(TUBB3):c.953G>A (p.Arg318Gln)	TUBB3 (R246Q +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690971	NM_139214.3(TGIF2LY):c.534_535del (p.Leu179fs)	TGIF2LY (L179fs)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690970	NM_207037.2(TCF12):c.1597C>T (p.Gln533Ter)	TCF12 (Q273* +9 more)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690969	NM_207037.2(TCF12):c.314C>A (p.Ser105Ter)	TCF12 (S105* +2 more)	Single nucleotide variant (nonsense +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690968	NM_014258.4(SYCP2):c.600-1G>A	SYCP2	Single nucleotide variant (splice acceptor variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690967	NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter)	SMCHD1 (R886*)	Single nucleotide variant (nonsense)	Facioscapulohumeral muscular dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 2690966	NM_001378902.1(ROS1):c.3611T>A (p.Leu1204Ter)	ROS1 (L1204* +2 more)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690965	NM_001378902.1(ROS1):c.5588dup (p.Ile1864fs)	ROS1 (I1864fs +2 more)	Duplication (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690964	NM_005778.4(RBM5):c.217G>A (p.Glu73Lys)	RBM5 (E73K)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690963	NM_001130969.3(NSMF):c.710+1G>A	NSMF	Single nucleotide variant (intron variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690960	NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)	NR5A1 (P198L)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +2 more	GConflicting classifications of pathogenicity
Select item 2690959	NM_004959.5(NR5A1):c.462del (p.Gly155fs)	NR5A1 (G155fs)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690958	NM_000044.6(AR):c.1286C>A (p.Ala429Asp)	AR (A429D)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690957	NM_004959.5(NR5A1):c.1140T>C (p.Asp380=)	NR5A1	Single nucleotide variant (synonymous variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690956	NM_173518.5(MCMDC2):c.1767T>A (p.Tyr589Ter)	MCMDC2 (Y589*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690955	NM_173518.5(MCMDC2):c.1363C>T (p.Gln455Ter)	MCMDC2 (Q455*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690954	NM_138792.4(LEO1):c.607C>T (p.Gln203Ter)	LEO1 (Q203*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690953	NM_175737.4(KLB):c.2676del (p.Ile892fs)	KLB (I892fs)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690952	NM_031407.7(HUWE1):c.5632G>T (p.Ala1878Ser)	HUWE1 (A1878S)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690951	NM_001142966.3(GREB1L):c.311C>T (p.Pro104Leu)	GREB1L, LOC101927521 (P104L)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690950	NM_001142966.3(GREB1L):c.23A>C (p.Gln8Pro)	GREB1L, LOC101927521 (Q8P)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690949	NM_012084.4(GLUD2):c.412C>T (p.Gln138Ter)	GLUD2 (Q138*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690948	NM_000044.6(AR):c.1106T>C (p.Leu369Pro)	AR (L369P)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2690947	NM_033163.5(FGF8):c.290T>C (p.Leu97Pro)	FGF8 (L57P +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690946	NM_153448.4(ESX1):c.1094C>G (p.Pro365Arg)	ESX1 (P365R)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690945	NM_021951.3(DMRT1):c.982A>G (p.Ser328Gly)	DMRT1 (S170G +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690944	NM_021951.3(DMRT1):c.425C>T (p.Ala142Val)	DMRT1 (A142V)	Single nucleotide variant (5 prime UTR variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690943	NM_021951.3(DMRT1):c.395G>A (p.Gly132Asp)	DMRT1 (G132D)	Single nucleotide variant (5 prime UTR variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690942	NM_032656.4(DHX37):c.2762A>G (p.Gln921Arg)	DHX37 (Q921R)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2686012	NM_002755.4(MAP2K1):c.635G>C (p.Ser212Thr)	MAP2K1 (S164T +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2686010	NM_005633.4(SOS1):c.642A>C (p.Gln214His)	SOS1 (Q207H +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2686009	NM_001085049.3(MRAS):c.359C>T (p.Pro120Leu)	MRAS (P120L +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2686008	NM_002834.5(PTPN11):c.518G>T (p.Arg173Leu)	PTPN11 (R172L +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2686007	NM_002834.5(PTPN11):c.362A>C (p.Glu121Ala)	PTPN11 (E120A +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2636001	NM_006080.3(SEMA3A):c.1450C>T (p.Arg484Trp)	SEMA3A (R484W)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 16 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 2626780	NM_144569.7(SPOCD1):c.1991_1992del (p.Arg664fs)	SPOCD1 (R157fs +1 more)	Deletion (frameshift variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2626779	NM_144569.7(SPOCD1):c.3354_3355insA (p.Gln1119fs)	SPOCD1 (Q1106fs +4 more)	Insertion (frameshift variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2626778	NM_144569.7(SPOCD1):c.2912T>G (p.Leu971Arg)	SPOCD1 (L464R +3 more)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2430953	NM_001042492.3(NF1):c.4348G>T (p.Ala1450Ser)	NF1 (A1429S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2391849	NM_130768.3(ASZ1):c.460A>G (p.Met154Val)	ASZ1 (M154V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1765120	NM_006767.4(LZTR1):c.891T>A (p.Tyr297Ter)	LZTR1 (Y297*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1418954	NM_001374353.1(GLI2):c.1253A>G (p.Tyr418Cys)	GLI2 (Y418C +2 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +2 more	GConflicting classifications of pathogenicity
Select item 1205854	NM_138289.4(ACTRT1):c.547dup (p.Met183fs)	ACTRT1 (M183fs)	Duplication (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +2 more	GConflicting classifications of pathogenicity
Select item 1184264	NM_001271862.2(PNLDC1):c.640-2A>T	PNLDC1	Single nucleotide variant (splice acceptor variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184263	NM_001271862.2(PNLDC1):c.[136dup;809T>C]	PNLDC1 (L35fs +3 more)	Duplication (frameshift variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184262	NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser)	PNLDC1 (P84S +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184261	NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter)	PNLDC1 (R452* +1 more)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 958902	NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter)	NR5A1 (Q112*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +2 more	GPathogenic
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 805830	NM_001321739.2(M1AP):c.676dup (p.Trp226fs)	M1AP (W226fs)	Duplication (frameshift variant)	Non-obstructive azoospermia +3 more	GConflicting classifications of pathogenicity
Select item 803030	NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)	OTX2 (P134R +1 more)	Single nucleotide variant (missense variant +1 more)	Pituitary hormone deficiency, combined, 6 +5 more	GConflicting classifications of pathogenicity
Select item 708130	NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter)	TEX14 (R341* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 561716	NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	LZTR1 (R283Q)	Single nucleotide variant (missense variant)	RASopathy +6 more	GConflicting classifications of pathogenicity
Select item 420175	NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)	LZTR1 (R170Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 208640	NM_020937.4(FANCM):c.1491dup (p.Gln498fs)	FANCM (Q498fs +1 more)	Duplication (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +2 more	GPathogenic/Likely pathogenic
Select item 156562	NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)	PROKR2 (R85C)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +3 more	GConflicting classifications of pathogenicity
Select item 40562	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	PTPN11 (M504V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40487	NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	PTPN11 (N58D +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +10 more	GPathogenic
Select item 30101	NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys)	GATA4 (E359K +3 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +1 more	GConflicting classifications of pathogenicity
Select item 30099	NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)	GATA4 (P163S)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +4 more	GConflicting classifications of pathogenicity
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 3603	NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)	PROK2	Deletion (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +4 more	GPathogenic
Select item 3451	NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	PROKR2 (R85H)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +4 more	GConflicting classifications of pathogenicity

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Items: 71