ClinVar for MedGen (Select 482274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370297	NM_018082.6(POLR3B):c.627G>T (p.Glu209Asp)	POLR3B (E151D +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 2626869	NM_018082.6(POLR3B):c.2511del (p.Ile838fs)	POLR3B (I780fs +1 more)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GPathogenic
Select item 2580914	NM_018082.6(POLR3B):c.1028T>C (p.Ile343Thr)	POLR3B (I285T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
Select item 2580913	NM_018082.6(POLR3B):c.1464+1G>T	POLR3B	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
Select item 2500938	NM_018082.6(POLR3B):c.1627+7A>G	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 2446612	NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)	POLR3B (R164* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GPathogenic/Likely pathogenic
Select item 2412776	NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)	POLR3B, LOC100287944 (M1062V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 2412775	NM_018082.6(POLR3B):c.1580G>T (p.Cys527Phe)	POLR3B (C469F +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 2412739	NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)	POLR3B (R329Q +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GConflicting classifications of pathogenicity
Select item 2189949	NM_018082.6(POLR3B):c.2293+1G>A	POLR3B	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2159514	NM_018082.6(POLR3B):c.2809C>T (p.Arg937Ter)	POLR3B (R879* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1708101	NM_018082.6(POLR3B):c.2476G>A (p.Val826Met)	POLR3B (V768M +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1708100	NM_018082.6(POLR3B):c.1263+5G>A	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1703248	NM_018082.6(POLR3B):c.2084-3092_2294-553del	LOC130008660, POLR3B	Deletion (splice acceptor variant +1 more)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1676839	NM_018082.6(POLR3B):c.745C>A (p.Gln249Lys)	POLR3B (Q191K +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1339144	NM_018082.6(POLR3B):c.1688G>A (p.Arg563Lys)	POLR3B (R505K +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1328976	NM_018082.6(POLR3B):c.1763del (p.Asp588fs)	POLR3B (D530fs +1 more)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GPathogenic
Select item 1275967	NM_018082.6(POLR3B):c.1102-4_1102-3dup	POLR3B	Duplication (intron variant)	not provided +3 more	GBenign
Select item 1241806	NM_018082.6(POLR3B):c.72+184_72+188del	POLR3B	Deletion (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 1241049	NM_018082.6(POLR3B):c.1102-3dup	POLR3B	Duplication (intron variant)	not provided +3 more	GBenign
Select item 1211101	NM_018082.6(POLR3B):c.2104C>T (p.Arg702Ter)	POLR3B (R644* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GPathogenic/Likely pathogenic
Select item 1191460	NM_018082.6(POLR3B):c.1615G>T (p.Val539Phe)	POLR3B (V481F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1184513	NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter)	POLR3B (R271* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
Select item 1184097	NM_018082.6(POLR3B):c.2817+30T>A	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 1184096	NM_018082.6(POLR3B):c.2083+1G>A	POLR3B	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184095	NM_018082.6(POLR3B):c.1857-12A>G	POLR3B	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1184094	NM_018082.6(POLR3B):c.1101+1G>C	POLR3B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1184093	NM_018082.6(POLR3B):c.967-15A>G	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184092	NM_018082.6(POLR3B):c.303+1G>A	POLR3B	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184091	NM_018082.6(POLR3B):c.3352C>T (p.Gln1118Ter)	LOC100287944, POLR3B (Q1060* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184090	NM_018082.6(POLR3B):c.3349C>G (p.Leu1117Val)	LOC100287944, POLR3B (L1059V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184089	NM_018082.6(POLR3B):c.3071C>T (p.Ala1024Val)	POLR3B, LOC100287944 (A1024V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184088	NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro)	LOC100287944, POLR3B (L1012P +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1184087	NM_018082.6(POLR3B):c.1346T>C (p.Leu449Pro)	POLR3B (L391P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GUncertain significance
Select item 1184086	NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu)	POLR3B (R384L +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 1184085	NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys)	POLR3B (R384C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +1 more	GConflicting classifications of pathogenicity
Select item 1184084	NM_018082.6(POLR3B):c.1253C>T (p.Ala418Val)	POLR3B (A360V +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1184083	NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter)	POLR3B (R282* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GPathogenic
Select item 1184082	NM_018082.6(POLR3B):c.832_833dup (p.Thr279fs)	POLR3B (T221fs +1 more)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184081	NM_018082.6(POLR3B):c.802A>G (p.Ser268Gly)	POLR3B (S210G +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184080	NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe)	POLR3B (L104F +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GPathogenic
Select item 1184079	NM_018082.6(POLR3B):c.308G>A (p.Arg103His)	POLR3B (R103H +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 1184078	NM_018082.6(POLR3B):c.79T>C (p.Trp27Arg)	POLR3B (W27R)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184077	NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys)	POLR3B, LOC100287944 (Y1003C +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 1184076	NM_018082.6(POLR3B):c.3005T>C (p.Ile1002Thr)	POLR3B, LOC100287944 (I1002T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184075	NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp)	LOC100287944, POLR3B (N924D +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 1184074	NM_018082.6(POLR3B):c.2920G>T (p.Glu974Ter)	LOC100287944, POLR3B (E916* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184073	NM_018082.6(POLR3B):c.2918G>T (p.Cys973Phe)	LOC100287944, POLR3B (C915F +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184072	NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg)	LOC100287944, POLR3B (S909R +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +2 more	GUncertain significance
Select item 1184071	NM_018082.6(POLR3B):c.2707del (p.Gln903fs)	POLR3B (Q845fs +1 more)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184070	NM_018082.6(POLR3B):c.2683G>A (p.Asp895Asn)	POLR3B (D837N +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184069	NM_018082.6(POLR3B):c.2190del (p.Phe730fs)	POLR3B (F672fs +1 more)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184068	NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser)	POLR3B (L669S +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1184067	NM_018082.6(POLR3B):c.1999G>A (p.Val667Met)	POLR3B (V609M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +2 more	GConflicting classifications of pathogenicity
Select item 1184066	NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys)	POLR3B (E589K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1184065	NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn)	POLR3B (D576N +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1184064	NM_018082.6(POLR3B):c.1788C>A (p.Tyr596Ter)	POLR3B (Y538* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184063	NM_018082.6(POLR3B):c.1579T>C (p.Cys527Arg)	POLR3B (C469R +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1184062	NM_018082.6(POLR3B):c.1477G>T (p.Val493Phe)	POLR3B (V435F +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Gnot provided
Select item 1069879	NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter)	POLR3B (R747* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1032790	NM_018082.6(POLR3B):c.2407A>G (p.Ile803Val)	POLR3B (I745V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032789	NM_018082.6(POLR3B):c.1670A>G (p.Asn557Ser)	POLR3B (N499S +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1028087	NM_018082.6(POLR3B):c.745C>G (p.Gln249Glu)	POLR3B (Q191E +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 987343	NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs)	POLR3B (L313fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 973230	NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)	POLR3B (R710C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +2 more	GConflicting classifications of pathogenicity
Select item 931565	NM_018082.6(POLR3B):c.665G>A (p.Arg222Gln)	POLR3B (R164Q +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884162	NM_018082.5(POLR3B):c.*653C>T	LOC100287944, POLR3B	Single nucleotide variant	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884112	NM_018082.6(POLR3B):c.2823G>A (p.Gly941=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884111	NM_018082.6(POLR3B):c.2731G>A (p.Val911Ile)	POLR3B (V911I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884110	NM_018082.6(POLR3B):c.2669G>T (p.Arg890Leu)	POLR3B (R832L +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884109	NM_018082.6(POLR3B):c.2461G>A (p.Val821Ile)	POLR3B (V763I +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884049	NM_018082.6(POLR3B):c.733G>A (p.Val245Ile)	POLR3B (V245I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 884048	NM_018082.6(POLR3B):c.615-3T>C	POLR3B	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 884047	NM_018082.6(POLR3B):c.106-3T>C	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882402	NM_018082.6(POLR3B):c.2301G>T (p.Gly767=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882401	NM_018082.6(POLR3B):c.2179T>C (p.Leu727=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882207	NM_018082.6(POLR3B):c.*205G>C	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882206	NM_018082.6(POLR3B):c.*98C>T	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882205	NM_018082.6(POLR3B):c.*60A>G	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882204	NM_018082.6(POLR3B):c.3147A>G (p.Glu1049=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882152	NM_018082.6(POLR3B):c.1602A>G (p.Pro534=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 880814	NM_018082.6(POLR3B):c.3098+8A>G	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 880813	NM_018082.6(POLR3B):c.3018C>T (p.Pro1006=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 880812	NM_018082.6(POLR3B):c.2933G>A (p.Arg978His)	LOC100287944, POLR3B (R920H +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +2 more	GUncertain significance
Select item 880811	NM_018082.6(POLR3B):c.2929G>C (p.Val977Leu)	LOC100287944, POLR3B (V919L +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 880754	NM_018082.6(POLR3B):c.967-9G>A	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 880753	NM_018082.6(POLR3B):c.966+14C>T	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 880752	NM_018082.6(POLR3B):c.846+14T>C	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 880751	NM_018082.6(POLR3B):c.780C>T (p.His260=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 880750	NM_018082.6(POLR3B):c.771A>T (p.Thr257=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 873511	NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr)	POLR3B (A702T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +2 more	GConflicting classifications of pathogenicity
Select item 870531	NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr)	POLR3B (N700T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
Select item 805934	NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GPathogenic
Select item 729284	NM_018082.6(POLR3B):c.1707T>C (p.Asn569=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 632180	NM_018082.6(POLR3B):c.1263+1G>A	POLR3B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 620581	NM_018082.6(POLR3B):c.2570+1G>A	POLR3B	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 617894	NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	POLR3A (R254*)	Single nucleotide variant (nonsense)	POLR3-related leukodystrophy +3 more	GPathogenic/Likely pathogenic
Select item 503678	NM_018082.6(POLR3B):c.1464+1G>A	POLR3B	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488794	NM_018082.6(POLR3B):c.1263+2T>C	POLR3B	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +4 more	GPathogenic/Likely pathogenic
Select item 445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Single nucleotide variant (intron variant)	Spastic ataxia +7 more	GPathogenic/Likely pathogenic

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