ClinVar for Gene (Select 1777) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 3023409	NM_001375.3(DNASE2):c.111T>C (p.Ala37=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006685	NM_001375.3(DNASE2):c.86+15G>A	DNASE2, LOC117125588	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000553	NM_001375.3(DNASE2):c.615C>T (p.His205=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993868	NM_001375.3(DNASE2):c.511+16G>A	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986567	NM_001375.3(DNASE2):c.492C>T (p.Phe164=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972833	NM_001375.3(DNASE2):c.30G>A (p.Leu10=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963393	NM_001375.3(DNASE2):c.945C>T (p.Asn315=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960919	NM_001375.3(DNASE2):c.346+13T>C	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959409	NM_001375.3(DNASE2):c.720C>T (p.Ser240=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893182	NM_001375.3(DNASE2):c.512-6del	DNASE2	Deletion (intron variant)	not provided	GLikely benign
Select item 2887656	NM_001375.3(DNASE2):c.189C>T (p.Asp63=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879052	NM_001375.3(DNASE2):c.86+9G>T	DNASE2, LOC117125588	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870525	NM_001375.3(DNASE2):c.393T>C (p.Ser131=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842337	NM_001375.3(DNASE2):c.709+20G>C	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807386	NM_001375.3(DNASE2):c.15G>T (p.Leu5=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800062	NM_001375.3(DNASE2):c.174C>T (p.Ser58=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792156	NM_001375.3(DNASE2):c.168G>A (p.Glu56=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781579	NM_001375.3(DNASE2):c.86+9G>C	DNASE2, LOC117125588	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780636	NM_001375.3(DNASE2):c.912G>T (p.Gly304=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730765	NM_001375.3(DNASE2):c.11T>C (p.Leu4Pro)	LOC117125588, DNASE2 (L4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718725	NM_001375.3(DNASE2):c.417C>A (p.Ala139=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707369	NM_001375.3(DNASE2):c.512-11T>G	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705465	NM_001375.3(DNASE2):c.12G>A (p.Leu4=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699026	NM_001375.3(DNASE2):c.511+15G>A	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695668	NM_001375.3(DNASE2):c.879G>A (p.Glu293=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2637371	NM_001375.3(DNASE2):c.463C>G (p.Gln155Glu)	DNASE2 (Q155E)	Single nucleotide variant (missense variant)	DNASE2-related condition	GUncertain significance
Select item 2629906	NM_001375.3(DNASE2):c.71G>A (p.Gly24Glu)	DNASE2, LOC117125588 (G24E)	Single nucleotide variant (missense variant)	DNASE2-related condition	GUncertain significance
Select item 2628708	NM_001375.3(DNASE2):c.330G>A (p.Met110Ile)	DNASE2 (M110I)	Single nucleotide variant (missense variant)	DNASE2-related condition	GUncertain significance
Select item 2577873	NM_001375.3(DNASE2):c.157T>C (p.Tyr53His)	DNASE2, LOC117125588 (Y53H)	Single nucleotide variant (missense variant)	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	GUncertain significance
Select item 2539687	NM_001375.3(DNASE2):c.893G>T (p.Trp298Leu)	DNASE2 (W298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489869	NM_001375.3(DNASE2):c.830A>G (p.Asn277Ser)	DNASE2 (N277S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425590	NC_000019.9:g.(?_12917488)_(13010355_?)dup	DNASE2, GCDH +5 more	Duplication	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	HOOK2, TRMT1 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 2417725	NM_001375.3(DNASE2):c.585C>T (p.Pro195=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328704	NM_001375.3(DNASE2):c.740T>G (p.Leu247Arg)	DNASE2 (L247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324924	NM_001375.3(DNASE2):c.1050G>A (p.Met350Ile)	DNASE2 (M350I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206999	NM_001375.3(DNASE2):c.168G>C (p.Glu56Asp)	LOC117125588, DNASE2 (E56D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2177697	NM_001375.3(DNASE2):c.450C>T (p.Ala150=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158525	NM_001375.3(DNASE2):c.961C>T (p.Arg321Trp)	DNASE2 (R321W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138241	NM_001375.3(DNASE2):c.575A>C (p.Gln192Pro)	DNASE2 (Q192P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138240	NM_001375.3(DNASE2):c.898G>A (p.Val300Met)	DNASE2 (V300M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120600	NM_001375.3(DNASE2):c.377T>A (p.Phe126Tyr)	DNASE2 (F126Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119898	NM_001375.3(DNASE2):c.1016C>A (p.Pro339Gln)	DNASE2 (P339Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114542	NM_001375.3(DNASE2):c.230G>A (p.Arg77Gln)	DNASE2, LOC117125588 (R77Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110478	NM_001375.3(DNASE2):c.542T>C (p.Val181Ala)	DNASE2 (V181A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107495	NM_001375.3(DNASE2):c.876A>G (p.Thr292=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096198	NM_001375.3(DNASE2):c.243G>A (p.Pro81=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092797	NM_001375.3(DNASE2):c.911G>A (p.Gly304Glu)	DNASE2 (G304E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091872	NM_001375.3(DNASE2):c.434_435delinsTT (p.Ser145Ile)	DNASE2 (S145I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2090432	NM_001375.3(DNASE2):c.552C>G (p.Tyr184Ter)	DNASE2 (Y184*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2086760	NM_001375.3(DNASE2):c.102G>C (p.Lys34Asn)	DNASE2, LOC117125588 (K34N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077853	NM_001375.3(DNASE2):c.625G>T (p.Glu209Ter)	DNASE2 (E209*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2077136	NM_001375.3(DNASE2):c.342G>A (p.Thr114=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071054	NM_001375.3(DNASE2):c.47C>A (p.Ala16Asp)	DNASE2, LOC117125588 (A16D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070794	NM_001375.3(DNASE2):c.808A>G (p.Ile270Val)	DNASE2 (I270V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067417	NM_001375.3(DNASE2):c.821T>G (p.Leu274Arg)	DNASE2 (L274R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062132	NM_001375.3(DNASE2):c.268-9C>T	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2060400	NM_001375.3(DNASE2):c.996C>T (p.Ala332=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058616	NM_001375.3(DNASE2):c.509T>C (p.Met170Thr)	DNASE2 (M170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2052625	NM_001375.3(DNASE2):c.664G>A (p.Gly222Arg)	DNASE2 (G222R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041858	NM_001375.3(DNASE2):c.235C>T (p.Leu79=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037010	NM_001375.3(DNASE2):c.309C>G (p.Ser103Arg)	DNASE2 (S103R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037004	NM_001375.3(DNASE2):c.533A>G (p.Tyr178Cys)	DNASE2 (Y178C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009154	NM_001375.3(DNASE2):c.1060C>G (p.Pro354Ala)	DNASE2 (P354A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003144	NM_001375.3(DNASE2):c.288T>G (p.Asn96Lys)	DNASE2 (N96K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000500	NM_001375.3(DNASE2):c.421T>C (p.Ser141Pro)	DNASE2 (S141P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997564	NM_001375.3(DNASE2):c.86+20C>G	DNASE2, LOC117125588	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988172	NM_001375.3(DNASE2):c.493G>A (p.Ala165Thr)	DNASE2 (A165T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985157	NM_001375.3(DNASE2):c.565A>T (p.Ile189Phe)	DNASE2 (I189F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975878	NM_001375.3(DNASE2):c.254G>A (p.Ser85Asn)	DNASE2, LOC117125588 (S85N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974914	NM_001375.3(DNASE2):c.1008C>T (p.Ala336=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969866	NM_001375.3(DNASE2):c.127G>C (p.Glu43Gln)	DNASE2, LOC117125588 (E43Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968532	NM_001375.3(DNASE2):c.709+9C>T	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959749	NM_001375.3(DNASE2):c.280C>T (p.Leu94Phe)	DNASE2 (L94F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957763	NM_001375.3(DNASE2):c.400A>C (p.Asn134His)	DNASE2 (N134H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948343	NM_001375.3(DNASE2):c.86+19del	DNASE2, LOC117125588	Deletion (intron variant)	not provided	GBenign
Select item 1946418	NM_001375.3(DNASE2):c.1020G>A (p.Leu340=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937266	NM_001375.3(DNASE2):c.297G>T (p.Pro99=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935743	NM_001375.3(DNASE2):c.1040G>A (p.Cys347Tyr)	DNASE2 (C347Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934334	NM_001375.3(DNASE2):c.298C>T (p.Pro100Ser)	DNASE2 (P100S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926522	NM_001375.3(DNASE2):c.777T>C (p.Thr259=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919433	NM_001375.3(DNASE2):c.141A>G (p.Arg47=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917118	NM_001375.3(DNASE2):c.630C>T (p.Pro210=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916061	NM_001375.3(DNASE2):c.601G>A (p.Val201Ile)	DNASE2 (V201I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915164	NM_001375.3(DNASE2):c.653C>T (p.Thr218Ile)	DNASE2 (T218I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908809	NM_001375.3(DNASE2):c.512-15C>T	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907083	NM_001375.3(DNASE2):c.448G>A (p.Ala150Thr)	DNASE2 (A150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899044	NM_001375.3(DNASE2):c.366C>T (p.His122=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898829	NM_001375.3(DNASE2):c.86+15G>C	DNASE2, LOC117125588	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1686901	NM_001375.3(DNASE2):c.284A>G (p.Tyr95Cys)	DNASE2	Single nucleotide variant (missense variant)	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	GPathogenic
Select item 1686900	NM_001375.3(DNASE2):c.362A>T (p.Asp121Val)	DNASE2 (D121V)	Single nucleotide variant (missense variant)	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	GPathogenic
Select item 1686899	NM_001375.3(DNASE2):c.347G>C (p.Gly116Ala)	DNASE2 (G116A)	Single nucleotide variant (missense variant)	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	GPathogenic
Select item 1673650	NM_001375.3(DNASE2):c.504G>A (p.Ser168=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673296	NM_001375.3(DNASE2):c.268-17C>G	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672006	NM_001375.3(DNASE2):c.897C>T (p.Cys299=)	DNASE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653807	NM_001375.3(DNASE2):c.709+19G>T	DNASE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625868	NM_001375.3(DNASE2):c.153C>T (p.Tyr51=)	DNASE2, LOC117125588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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