RNASEH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	ACP1, ADI1 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	ACP1, ADI1 +107 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 58810	GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3	ADI1, ALLC +44 more	Copy number gain	See cases	GUncertain significance
Select item 149319	GRCh38/hg38 2p25.3-25.2(chr2:2797196-4697562)x3	ADI1, ALLC +55 more	Copy number gain	See cases	GUncertain significance
Select item 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 145551	GRCh38/hg38 2p25.3(chr2:3522147-3849658)x3	ALLC, COLEC11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2195654	NM_002936.6(RNASEH1):c.852G>A (p.Ser284=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 932561	NM_002936.6(RNASEH1):c.830C>T (p.Ala277Val)	RNASEH1 (A160V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3252227	NM_002936.6(RNASEH1):c.824G>T (p.Arg275Ile)	RNASEH1 (R158I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2178116	NM_002936.6(RNASEH1):c.813A>G (p.Glu271=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	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 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 2791850	NM_002936.6(RNASEH1):c.775-21_775-16del	RNASEH1	Deletion (intron variant +1 more)	not provided	GLikely benign
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 1636084	NM_002936.6(RNASEH1):c.775-19A>G	RNASEH1 (E259G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1198046	NM_002936.6(RNASEH1):c.775-152G>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215072	NM_002936.6(RNASEH1):c.774+190G>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952404	NM_002936.6(RNASEH1):c.774+5G>A	RNASEH1	Single nucleotide variant (intron variant)	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 1943179	NM_002936.6(RNASEH1):c.759G>T (p.Gly253=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 735901	NM_002936.6(RNASEH1):c.729C>T (p.Asp243=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 759869	NM_002936.6(RNASEH1):c.720C>T (p.Asn240=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3021260	NM_002936.6(RNASEH1):c.705G>C (p.Gly235=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 673568	NM_002936.6(RNASEH1):c.702A>G (p.Ala234=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely 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 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 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 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 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 1999479	NM_002936.6(RNASEH1):c.650-5dup	RNASEH1	Duplication (intron variant)	not provided	GBenign
Select item 1911102	NM_002936.6(RNASEH1):c.650-14G>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900516	NM_002936.6(RNASEH1):c.650-15C>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234591	NM_002936.6(RNASEH1):c.650-189G>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2106232	NM_002936.6(RNASEH1):c.649+19T>C	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296952	NM_002936.6(RNASEH1):c.649+13A>G	RNASEH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2875097	NM_002936.6(RNASEH1):c.642G>A (p.Thr214=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 1359718	NM_002936.6(RNASEH1):c.608A>G (p.Asn203Ser)	RNASEH1 (N202S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334824	NM_002936.6(RNASEH1):c.604A>T (p.Ile202Phe)	RNASEH1 (I176F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 499663	NM_002936.6(RNASEH1):c.572G>A (p.Cys191Tyr)	RNASEH1 (C191Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1202249	NM_002936.6(RNASEH1):c.569C>T (p.Ala190Val)	RNASEH1 (A164V +4 more)	Single nucleotide variant (missense variant +1 more)	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 1633224	NM_002936.6(RNASEH1):c.565-16G>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955354	NM_002936.6(RNASEH1):c.565-19A>G	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899814	NM_002936.6(RNASEH1):c.564+16C>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898100	NM_002936.6(RNASEH1):c.564+11A>G	RNASEH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2746678	NM_002936.6(RNASEH1):c.564+6T>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2421338	NM_002936.6(RNASEH1):c.555G>A (p.Ala185=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 372199	NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val)	RNASEH1 (A185V +4 more)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	GPathogenic
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 3341086	NM_002936.6(RNASEH1):c.532G>A (p.Gly178Arg)	RNASEH1 (G152R +4 more)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	GUncertain significance
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 1928720	NM_002936.6(RNASEH1):c.513T>C (p.Asn171=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 671580	NM_002936.6(RNASEH1):c.509+238G>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254502	NM_002936.6(RNASEH1):c.509+231dup	RNASEH1	Duplication (intron variant)	not provided	GBenign
Select item 1221742	NM_002936.6(RNASEH1):c.509+206dup	RNASEH1	Duplication (intron variant)	not provided	GBenign
Select item 1207337	NM_002936.6(RNASEH1):c.509+206_509+207dup	RNASEH1	Duplication (intron variant)	not provided	GLikely benign
Select item 1286862	NM_002936.6(RNASEH1):c.509+230del	RNASEH1	Deletion (intron variant)	not provided	GBenign
Select item 1962679	NM_002936.6(RNASEH1):c.509+12G>A	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973562	NM_002936.6(RNASEH1):c.509+11C>T	RNASEH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062628	NM_002936.6(RNASEH1):c.509+3A>G	RNASEH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 683674	NM_002936.6(RNASEH1):c.498A>G (p.Pro166=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 2184636	NM_002936.6(RNASEH1):c.480C>T (p.Ile160=)	RNASEH1	Single nucleotide variant (synonymous variant +1 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 730250	NM_002936.6(RNASEH1):c.474A>G (p.Ala158=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 595690	NM_002936.6(RNASEH1):c.470G>A (p.Arg157Gln)	RNASEH1 (R157Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 372198	NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter)	RNASEH1 (R157* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 737361	NM_002936.6(RNASEH1):c.441C>T (p.Cys147=)	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 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 372197	NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile)	RNASEH1 (V142I +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 +1 more	GPathogenic/Likely pathogenic
Select item 1642782	NM_002936.6(RNASEH1):c.423C>T (p.Val141=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960754	NM_002936.6(RNASEH1):c.421G>A (p.Val141Ile)	RNASEH1 (V115I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 737414	NM_002936.6(RNASEH1):c.417C>T (p.Phe139=)	RNASEH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739275	NM_002936.6(RNASEH1):c.411A>G (p.Gly137=)	RNASEH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1918242	NM_002936.6(RNASEH1):c.410-19del	RNASEH1	Deletion (intron variant)	not provided	GLikely benign

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