55703[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 59439	GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1	ALDH1L2, APPL2 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 1283621	NC_000012.12:g.106357492T>C	POLR3B	Single nucleotide variant	not provided	GBenign
Select item 1187820	NC_000012.12:g.106357690G>A	POLR3B	Single nucleotide variant	not provided	GLikely benign
Select item 306920	NM_018082.5(POLR3B):c.-186C>A	POLR3B	Single nucleotide variant	POLR3-related leukodystrophy	GUncertain significance
Select item 306921	NM_018082.5(POLR3B):c.-173C>T	POLR3B	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306922	NM_018082.6(POLR3B):c.-106A>G	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GBenign
Select item 306923	NM_018082.6(POLR3B):c.-95C>T	POLR3B	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1219149	NM_018082.6(POLR3B):c.-80G>A	POLR3B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 306924	NM_018082.6(POLR3B):c.-39G>T	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306925	NM_018082.6(POLR3B):c.-37G>T	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306926	NM_018082.6(POLR3B):c.-1C>T	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GBenign
Select item 2063491	NM_018082.6(POLR3B):c.11T>C (p.Leu4Pro)	POLR3B (L4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722734	NM_018082.6(POLR3B):c.14C>T (p.Ala5Val)	POLR3B (A5V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2572830	NM_018082.6(POLR3B):c.23T>C (p.Phe8Ser)	POLR3B (F8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1581987	NM_018082.6(POLR3B):c.30C>T (p.Asn10=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090315	NM_018082.6(POLR3B):c.36T>C (p.Thr12=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896952	NM_018082.6(POLR3B):c.45G>C (p.Gln15His)	POLR3B (Q15H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939723	NM_018082.6(POLR3B):c.52G>T (p.Ala18Ser)	POLR3B (A18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252369	NM_018082.6(POLR3B):c.53C>T (p.Ala18Val)	POLR3B (A18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416775	NM_018082.6(POLR3B):c.56C>G (p.Pro19Arg)	POLR3B (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2271370	NM_018082.6(POLR3B):c.68T>C (p.Val23Ala)	POLR3B (V23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1952840	NM_018082.6(POLR3B):c.70G>C (p.Glu24Gln)	POLR3B (E24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503212	NM_018082.6(POLR3B):c.72+5G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2001491	NM_018082.6(POLR3B):c.72+13C>T	POLR3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1296582	NM_018082.6(POLR3B):c.72+76G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276637	NM_018082.6(POLR3B):c.72+146C>T	POLR3B	Single nucleotide variant (intron variant)	not provided	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 1198006	NM_018082.6(POLR3B):c.72+236G>A	POLR3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1178112	NM_018082.6(POLR3B):c.73-293A>G	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168762	NM_018082.6(POLR3B):c.73-17_73-15del	POLR3B	Microsatellite (intron variant)	not provided	GBenign
Select item 1706979	NM_018082.6(POLR3B):c.73-3C>T	POLR3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1952798	NM_018082.6(POLR3B):c.73-2A>T	POLR3B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2992019	NM_018082.6(POLR3B):c.85C>T (p.Leu29=)	POLR3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1248054	NM_018082.6(POLR3B):c.106-169A>G	POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
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 1928919	NM_018082.6(POLR3B):c.143A>T (p.Asn48Ile)	POLR3B (N48I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3016006	NM_018082.6(POLR3B):c.153T>C (p.Ile51=)	POLR3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1633914	NM_018082.6(POLR3B):c.163-16G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213560	NM_018082.6(POLR3B):c.165_167del (p.Ile55_Lys56delinsMet)	POLR3B	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1901358	NM_018082.6(POLR3B):c.181G>A (p.Ala61Thr)	POLR3B (A3T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312368	NM_018082.6(POLR3B):c.188A>G (p.Glu63Gly)	POLR3B (E5G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500202	NM_018082.6(POLR3B):c.206C>G (p.Ala69Gly)	POLR3B (A11G +1 more)	Single nucleotide variant (missense variant)	POLR3B-related disorder	GUncertain significance
Select item 3366844	NM_018082.6(POLR3B):c.207T>A (p.Ala69=)	POLR3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2901787	NM_018082.6(POLR3B):c.210C>T (p.Asp70=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177741	NM_018082.6(POLR3B):c.211C>T (p.Pro71Ser)	POLR3B (P13S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899387	NM_018082.6(POLR3B):c.214A>G (p.Met72Val)	POLR3B (M72V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229344	NM_018082.6(POLR3B):c.228-288A>G	POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296586	NM_018082.6(POLR3B):c.228-40C>T	POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957758	NM_018082.6(POLR3B):c.228-20C>T	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969537	NM_018082.6(POLR3B):c.228-19G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918625	NM_018082.6(POLR3B):c.228-17A>G	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3216568	NM_018082.6(POLR3B):c.233T>G (p.Leu78Arg)	POLR3B (L78R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1461077	NM_018082.6(POLR3B):c.242A>T (p.Tyr81Phe)	POLR3B (Y23F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314326	NM_018082.6(POLR3B):c.257A>C (p.Asp86Ala)	POLR3B (D28A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3308824	NM_018082.6(POLR3B):c.258T>A (p.Asp86Glu)	POLR3B (D28E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1586382	NM_018082.6(POLR3B):c.282T>C (p.Thr94=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113517	NM_018082.6(POLR3B):c.290_292dup (p.Val97_Ser98insLeu)	POLR3B	Duplication (inframe_insertion)	not provided	GUncertain significance
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 1245752	NM_018082.6(POLR3B):c.304-93A>G	POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1961274	NM_018082.6(POLR3B):c.307C>T (p.Arg103Cys)	POLR3B (R103C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3308823	NM_018082.6(POLR3B):c.317A>G (p.Asp106Gly)	POLR3B (D48G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712197	NM_018082.6(POLR3B):c.324A>G (p.Thr108=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096047	NM_018082.6(POLR3B):c.336del (p.Ile113fs)	POLR3B (I113fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2388218	NM_018082.6(POLR3B):c.337A>G (p.Ile113Val)	POLR3B (I113V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2167652	NM_018082.6(POLR3B):c.342A>G (p.Thr114=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122275	NM_018082.6(POLR3B):c.351T>A (p.Ile117=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952486	NM_018082.6(POLR3B):c.357T>C (p.Tyr119=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948435	NM_018082.6(POLR3B):c.382C>T (p.Arg128Cys)	POLR3B (R128C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496319	NM_018082.6(POLR3B):c.386A>G (p.Asn129Ser)	POLR3B (N129S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306927	NM_018082.6(POLR3B):c.399C>T (p.Ile133=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 916304	NM_018082.6(POLR3B):c.400G>A (p.Gly134Ser)	POLR3B (G134S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918782	NM_018082.6(POLR3B):c.404+17G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269971	NM_018082.6(POLR3B):c.404+267G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194835	NM_018082.6(POLR3B):c.405-260G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215627	NM_018082.6(POLR3B):c.405-229G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3216570	NM_018082.6(POLR3B):c.422G>A (p.Arg141His)	POLR3B (R141H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 306928	NM_018082.6(POLR3B):c.423T>C (p.Arg141=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1964249	NM_018082.6(POLR3B):c.432C>G (p.Asn144Lys)	POLR3B (N144K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985233	NM_018082.6(POLR3B):c.434G>A (p.Cys145Tyr)	POLR3B (C145Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2901175	NM_018082.6(POLR3B):c.454C>G (p.Pro152Ala)	POLR3B (P94A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968634	NM_018082.6(POLR3B):c.469A>G (p.Lys157Glu)	POLR3B (K157E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590448	NM_018082.6(POLR3B):c.477C>T (p.Asn159=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989354	NM_018082.6(POLR3B):c.478G>A (p.Glu160Lys)	POLR3B (E102K +1 more)	Single nucleotide variant (missense variant)	POLR3-related leukodystrophy +1 more	GUncertain significance
Select item 806930	NM_018082.6(POLR3B):c.484C>G (p.Pro162Ala)	POLR3B (P104A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473245	NM_018082.6(POLR3B):c.488T>C (p.Leu163Ser)	POLR3B (L105S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1253113	NM_018082.6(POLR3B):c.496+185_496+186insTTTTTTTTTTT	POLR3B	Insertion (intron variant)	not provided	GBenign
Select item 1195060	NM_018082.6(POLR3B):c.496+185_496+186insTTTTTTTTTTTTT	POLR3B	Insertion (intron variant)	not provided	GLikely benign
Select item 1183239	NM_018082.6(POLR3B):c.496+185_496+186insTTTTTTTTTTTT	POLR3B	Insertion (intron variant)	not provided	GBenign
Select item 1213002	NM_018082.6(POLR3B):c.497-309C>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197986	NM_018082.6(POLR3B):c.497-233G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190496	NM_018082.6(POLR3B):c.497-204C>T	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183314	NM_018082.6(POLR3B):c.497-110A>G	POLR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189564	NM_018082.6(POLR3B):c.497-67C>T	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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