ClinVar for Gene (Select 246243) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154862	NM_002936.6(RNASEH1):c.374C>T (p.Ala125Val)	RNASEH1 (A125V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3154861	NM_002936.6(RNASEH1):c.299G>A (p.Arg100His)	RNASEH1 (R100H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3021260	NM_002936.6(RNASEH1):c.705G>C (p.Gly235=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008316	NM_002936.6(RNASEH1):c.396G>A (p.Thr132=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3000562	NM_002936.6(RNASEH1):c.40G>A (p.Ala14Thr)	LOC129933002, RNASEH1 (A14T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2973562	NM_002936.6(RNASEH1):c.509+11C>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960754	NM_002936.6(RNASEH1):c.421G>A (p.Val141Ile)	RNASEH1 (V115I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2955951	NM_002936.6(RNASEH1):c.279G>A (p.Ala93=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2918136	NM_002936.6(RNASEH1):c.360G>A (p.Pro120=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901438	NM_002936.6(RNASEH1):c.375G>A (p.Ala125=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2883014	NM_002936.6(RNASEH1):c.244+8C>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875097	NM_002936.6(RNASEH1):c.642G>A (p.Thr214=)	RNASEH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2850951	NM_002936.6(RNASEH1):c.701C>G (p.Ala234Gly)	RNASEH1 (A117G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2838843	NM_002936.6(RNASEH1):c.42C>A (p.Ala14=)	LOC129933002, RNASEH1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2830192	NM_002936.6(RNASEH1):c.15G>C (p.Leu5=)	LOC129933002, RNASEH1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2791850	NM_002936.6(RNASEH1):c.775-21_775-16del	RNASEH1	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 2790128	NM_002936.6(RNASEH1):c.240A>G (p.Ser80=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2789551	NM_002936.6(RNASEH1):c.477A>G (p.Gly159=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783287	NM_002936.6(RNASEH1):c.261T>C (p.His87=)	RNASEH1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2746678	NM_002936.6(RNASEH1):c.564+6T>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2728594	NM_002936.6(RNASEH1):c.228C>T (p.Ser76=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2725052	NM_002936.6(RNASEH1):c.372G>A (p.Pro124=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650635	NM_002936.6(RNASEH1):c.273G>A (p.Ser91=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2627453	NM_002936.6(RNASEH1):c.526C>T (p.Leu176Phe)	RNASEH1 (L150F +4 more)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	GUncertain significance
Select item 2627184	NM_002936.6(RNASEH1):c.510-2A>G	RNASEH1	Single nucleotide variant (splice acceptor variant +1 more)	not specified	GUncertain significance
Select item 2606092	NM_002936.6(RNASEH1):c.713T>G (p.Val238Gly)	RNASEH1 (V212G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2578381	NM_002936.6(RNASEH1):c.298C>T (p.Arg100Cys)	RNASEH1 (R100C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 2551505	NM_002936.6(RNASEH1):c.154C>T (p.Arg52Trp)	RNASEH1 (R52W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2533826	NM_002936.6(RNASEH1):c.616G>T (p.Val206Phe)	RNASEH1 (V201F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503336	NM_002936.6(RNASEH1):c.408G>A (p.Met136Ile)	RNASEH1 (M110I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500574	NM_002936.6(RNASEH1):c.764A>G (p.Asp255Gly)	RNASEH1 (D138G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2484783	NM_002936.6(RNASEH1):c.652A>G (p.Ile218Val)	RNASEH1 (I101V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474680	NM_002936.6(RNASEH1):c.65C>G (p.Ser22Cys)	LOC129933002, RNASEH1 (S22C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2424573	NC_000002.11:g.(?_3599714)_(3605850_?)dup	RNASEH1	Duplication	not provided	GUncertain significance
Select item 2423465	NC_000002.11:g.(?_3391395)_(3624240_?)dup	ADI1, RNASEH1 +2 more	Duplication	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2421338	NM_002936.6(RNASEH1):c.555G>A (p.Ala185=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2420793	NM_002936.6(RNASEH1):c.338C>T (p.Pro113Leu)	RNASEH1 (P113L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2418128	NM_002936.6(RNASEH1):c.468G>A (p.Pro156=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2236836	NM_002936.6(RNASEH1):c.25C>T (p.His9Tyr)	LOC129933002, RNASEH1 (H9Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2208817	NM_002936.6(RNASEH1):c.164C>G (p.Ala55Gly)	RNASEH1 (A29G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2195654	NM_002936.6(RNASEH1):c.852G>A (p.Ser284=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2191455	NM_002936.6(RNASEH1):c.671G>A (p.Gly224Asp)	RNASEH1 (G219D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191112	NM_002936.6(RNASEH1):c.126C>G (p.Thr42=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2186868	NM_002936.6(RNASEH1):c.348G>A (p.Lys116=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2186031	NM_002936.6(RNASEH1):c.339G>A (p.Pro113=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2184636	NM_002936.6(RNASEH1):c.480C>T (p.Ile160=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2184363	NM_002936.6(RNASEH1):c.626C>T (p.Thr209Ile)	RNASEH1 (T209I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180978	NM_002936.6(RNASEH1):c.641C>T (p.Thr214Met)	RNASEH1 (T214M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178737	NM_002936.6(RNASEH1):c.409+7C>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178407	NM_002936.6(RNASEH1):c.565-9C>G	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178116	NM_002936.6(RNASEH1):c.813A>G (p.Glu271=)	RNASEH1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2177103	NM_002936.6(RNASEH1):c.420C>T (p.Val140=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2167915	NM_002936.6(RNASEH1):c.65C>T (p.Ser22Phe)	LOC129933002, RNASEH1 (S22F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2165276	NM_002936.6(RNASEH1):c.330C>T (p.Ser110=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2142955	NM_002936.6(RNASEH1):c.68G>A (p.Arg23His)	LOC129933002, RNASEH1 (R23H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136389	NM_002936.6(RNASEH1):c.144A>G (p.Ala48=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2130796	NM_002936.6(RNASEH1):c.817G>A (p.Ala273Thr)	RNASEH1 (A156T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2121306	NM_002936.6(RNASEH1):c.775-17A>G	RNASEH1 (N260D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2106501	NM_002936.6(RNASEH1):c.114G>T (p.Gly38=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2106232	NM_002936.6(RNASEH1):c.649+19T>C	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094844	NM_002936.6(RNASEH1):c.802A>G (p.Ile268Val)	RNASEH1 (I263V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2084621	NM_002936.6(RNASEH1):c.5G>C (p.Ser2Thr)	LOC129933002, RNASEH1 (S2T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2083284	NM_002936.6(RNASEH1):c.339G>C (p.Pro113=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2071909	NM_002936.6(RNASEH1):c.72G>T (p.Gly24=)	LOC129933002, RNASEH1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2068844	NM_002936.6(RNASEH1):c.699T>G (p.Ser233Arg)	RNASEH1 (S207R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068080	NM_002936.6(RNASEH1):c.375G>T (p.Ala125=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2066677	NM_002936.6(RNASEH1):c.363C>T (p.Ser121=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2064628	NM_002936.6(RNASEH1):c.154C>G (p.Arg52Gly)	RNASEH1 (R26G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2062628	NM_002936.6(RNASEH1):c.509+3A>G	RNASEH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2044139	NM_002936.6(RNASEH1):c.258A>G (p.Gln86=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	RNASEH1-related disorder +1 more	GBenign/Likely benign
Select item 2033178	NM_002936.6(RNASEH1):c.665T>C (p.Val222Ala)	RNASEH1 (V105A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2016156	NM_002936.6(RNASEH1):c.632G>T (p.Ser211Ile)	RNASEH1 (S210I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2002009	NM_002936.6(RNASEH1):c.244+6C>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1999479	NM_002936.6(RNASEH1):c.650-5dup	RNASEH1	Duplication (intron variant)	not provided	GBenign
Select item 1998990	NM_002936.6(RNASEH1):c.207C>G (p.Ala69=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1995860	NM_002936.6(RNASEH1):c.549_550del (p.Arg184fs)	RNASEH1 (R158fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1987885	NM_002936.6(RNASEH1):c.406A>G (p.Met136Val)	RNASEH1 (M136V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1985730	NM_002936.6(RNASEH1):c.851C>A (p.Ser284Ter)	RNASEH1 (S284* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1979116	NM_002936.6(RNASEH1):c.795G>A (p.Ser265=)	RNASEH1 (R272Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1977598	NM_002936.6(RNASEH1):c.483C>T (p.Gly161=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1967668	NM_002936.6(RNASEH1):c.428A>G (p.Tyr143Cys)	RNASEH1 (Y143C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962679	NM_002936.6(RNASEH1):c.509+12G>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962544	NM_002936.6(RNASEH1):c.143C>T (p.Ala48Val)	RNASEH1 (A48V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1957849	NM_002936.6(RNASEH1):c.703G>A (p.Gly235Arg)	RNASEH1 (G118R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1955354	NM_002936.6(RNASEH1):c.565-19A>G	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954716	NM_002936.6(RNASEH1):c.214A>G (p.Arg72Gly)	RNASEH1 (R46G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1953756	NM_002936.6(RNASEH1):c.298C>G (p.Arg100Gly)	RNASEH1 (R100G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1952404	NM_002936.6(RNASEH1):c.774+5G>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1950431	NM_002936.6(RNASEH1):c.591A>G (p.Ala197=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1946413	NM_002936.6(RNASEH1):c.432T>C (p.Thr144=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943179	NM_002936.6(RNASEH1):c.759G>T (p.Gly253=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1939861	NM_002936.6(RNASEH1):c.78G>A (p.Gly26=)	RNASEH1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1928720	NM_002936.6(RNASEH1):c.513T>C (p.Asn171=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	RNASEH1-related disorder +1 more	GLikely benign
Select item 1928377	NM_002936.6(RNASEH1):c.244+10T>C	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928375	NM_002936.6(RNASEH1):c.244+14A>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924904	NM_002936.6(RNASEH1):c.173T>A (p.Phe58Tyr)	RNASEH1 (F32Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1920069	NM_002936.6(RNASEH1):c.410-20T>C	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918242	NM_002936.6(RNASEH1):c.410-19del	RNASEH1	Deletion (intron variant)	not provided	GLikely benign
Select item 1918185	NM_002936.6(RNASEH1):c.128+18C>T	RNASEH1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign

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