ClinVar (all) for Orgtrack (Select 508159) - ClinVar - NCBI

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	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 2690981	NM_003482.4(KMT2D):c.16051C>T (p.Arg5351Trp)	KMT2D (R5351W)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 2690980	NM_001126128.2(PROK2):c.122G>A (p.Gly41Asp)	PROK2 (G41D)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 2690979	NM_001126128.2(PROK2):c.313C>T (p.His105Tyr)	PROK2 (H105Y +1 more)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	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 2690977	NM_001347721.2(DYRK1A):c.994G>T (p.Ala332Ser)	DYRK1A (A303S +2 more)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 2690976	NM_001347721.2(DYRK1A):c.371G>A (p.Arg124Gln)	DYRK1A (R124Q +2 more)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 2690975	NM_032656.4(DHX37):c.1156G>A (p.Gly386Ser)	DHX37 (G386S)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	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)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +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 2690962	NM_004959.5(NR5A1):c.31G>A (p.Glu11Lys)	NR5A1 (E11K)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2690961	NM_004959.5(NR5A1):c.22G>C (p.Asp8His)	NR5A1 (D8H)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2690960	NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)	NR5A1 (P198L)	Single nucleotide variant (missense variant)	not provided +3 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)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +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 2686013	NM_003722.5(TP63):c.1283C>T (p.Pro428Leu)	TP63 (P245L +6 more)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	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 2686011	NM_006939.4(SOS2):c.26A>G (p.Glu9Gly)	LOC130055588, SOS2 (E9G)	Single nucleotide variant (missense variant)	Male infertility due to gonadal dysgenesis or sperm disorder	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)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +1 more	GConflicting classifications of pathogenicity
Select item 2576413	NM_001114122.3(CHEK1):c.1036C>T (p.Gln346Ter)	CHEK1 (Q245* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	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 2428224	NM_006767.4(LZTR1):c.540del (p.Thr181fs)	LZTR1 (T181fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2391849	NM_130768.3(ASZ1):c.460A>G (p.Met154Val)	ASZ1 (M154V)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +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 1692989	NM_000545.8(HNF1A):c.467C>A (p.Thr156Lys)	HNF1A (T156K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1691446	NM_005633.4(SOS1):c.406T>C (p.Tyr136His)	SOS1 (Y129H +1 more)	Single nucleotide variant (missense variant)	46,XY partial gonadal dysgenesis	GLikely pathogenic
Select item 1691445	NM_004959.5(NR5A1):c.991-1G>C	NR5A1	Single nucleotide variant (splice acceptor variant)	46,XY partial gonadal dysgenesis	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 +1 more	GConflicting classifications of pathogenicity
Select item 1075590	NM_024426.6(WT1):c.455del (p.Gly152fs)	LOC107982234, WT1 (G152fs)	Deletion (frameshift variant +1 more)	Wilms tumor 1 +3 more	GPathogenic/Likely pathogenic
Select item 1047927	NM_017780.4(CHD7):c.6194G>A (p.Arg2065His)	CHD7 (R2065H)	Single nucleotide variant (missense variant +1 more)	Male infertility with spermatogenesis disorder +4 more	GConflicting classifications of pathogenicity
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 919773	NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)	TGFBR2 (R356Q +8 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897086	NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser)	PROKR2 (P290S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 807998	NM_002474.3(MYH11):c.5083-1G>A	MYH11, NDE1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GPathogenic/Likely pathogenic
Select item 807738	NM_000044.6(AR):c.1723C>G (p.Leu575Val)	AR (L575V +1 more)	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 805830	NM_001321739.2(M1AP):c.676dup (p.Trp226fs)	M1AP (W226fs)	Duplication (frameshift variant)	not provided +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)	Syndromic microphthalmia type 5 +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 625214	NM_000033.4(ABCD1):c.854G>A (p.Arg285His)	ABCD1 (R285H)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 561716	NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	LZTR1 (R283Q)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +5 more	GPathogenic/Likely pathogenic
Select item 497545	NM_003865.3(HESX1):c.326G>A (p.Arg109Gln)	HESX1 (R109Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 451481	NM_000540.3(RYR1):c.12319del (p.Ile4107fs)	RYR1 (I4107fs +1 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 420175	NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)	LZTR1 (R170Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 412519	NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)	FANCM (Q1701* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 374301	NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)	SPRED1 (R325*)	Single nucleotide variant (nonsense)	Male infertility with spermatogenesis disorder +2 more	GPathogenic
Select item 374124	NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)	KIF7 (Y145S)	Single nucleotide variant (missense variant)	Male infertility due to gonadal dysgenesis or sperm disorder +8 more	GConflicting classifications of pathogenicity
Select item 226351	NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	LDLR (R406W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 224998	NM_000540.3(RYR1):c.10347+1G>A	RYR1	Single nucleotide variant (splice donor variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 208640	NM_020937.4(FANCM):c.1491dup (p.Gln498fs)	FANCM (Q498fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 200142	NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)	FBN1 (R96T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +8 more	GPathogenic/Likely pathogenic
Select item 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 156562	NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)	PROKR2 (R85C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 89357	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6 (R1076C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 67934	NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)	SCN5A (R1625H +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 53070	NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	KCNQ1 (R190W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 53057	NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp)	KCNQ1 (V173D +2 more)	Single nucleotide variant (missense variant)	Recurrent spontaneous abortion	GPathogenic
Select item 51504	NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 45345	NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	SOS1 (I437T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +7 more	GPathogenic/Likely pathogenic
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)	Metachondromatosis +10 more	GPathogenic
Select item 38612	NM_020975.6(RET):c.2370G>T (p.Leu790Phe)	RET (L790F +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +5 more	GPathogenic
Select item 38164	NM_000059.4(BRCA2):c.8488-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37975	NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)	BRCA2 (I1859fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37756	NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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