ClinVar for Gene (Select 8635) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314651	NM_003730.6(RNASET2):c.664C>T (p.Pro222Ser)	RNASET2 (P222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246169	NC_000006.11:g.(?_166778917)_(167453466_?)dup	CEP43, MPC1 +2 more	Duplication	not provided	GUncertain significance
Select item 3154885	NM_003730.6(RNASET2):c.512C>T (p.Ala171Val)	RNASET2 (A171V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154884	NM_003730.6(RNASET2):c.265C>A (p.Leu89Ile)	RNASET2 (L89I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154883	NM_003730.6(RNASET2):c.186G>T (p.Trp62Cys)	RNASET2 (W62C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062885	GRCh37/hg19 6q27(chr6:167165318-167433823)x1	CEP43, RNASET2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3025734	NM_003730.6(RNASET2):c.247T>A (p.Leu83Ile)	RNASET2 (L83I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 3016588	NM_003730.6(RNASET2):c.699C>T (p.Ala233=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015909	NM_003730.6(RNASET2):c.363C>T (p.Cys121=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988781	NM_003730.6(RNASET2):c.66C>A (p.Gly22=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988094	NM_003730.6(RNASET2):c.69T>A (p.Gly23=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974118	NM_003730.6(RNASET2):c.159C>T (p.Asn53=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910974	NM_003730.6(RNASET2):c.144C>T (p.Cys48=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830206	NM_003730.6(RNASET2):c.332+16T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790626	NM_003730.6(RNASET2):c.147+8T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722268	NM_003730.6(RNASET2):c.147+16T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708862	NM_003730.6(RNASET2):c.203+7G>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684463	GRCh37/hg19 6q27(chr6:167047570-167576975)x3	CCR6, CEP43 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2576615	NM_003730.6(RNASET2):c.332+1G>T	RNASET2	Single nucleotide variant (splice donor variant)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2571268	NM_003730.6(RNASET2):c.446+131G>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2496365	NM_003730.6(RNASET2):c.749C>T (p.Pro250Leu)	RNASET2 (P250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488365	NM_003730.6(RNASET2):c.380C>G (p.Ala127Gly)	RNASET2 (A127G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483655	NM_003730.6(RNASET2):c.499G>C (p.Asp167His)	RNASET2 (D167H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435446	NM_003730.6(RNASET2):c.502T>C (p.Phe168Leu)	RNASET2 (F168L)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 2435445	NM_003730.6(RNASET2):c.261+3A>G	RNASET2	Single nucleotide variant (intron variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 2435444	NM_003730.6(RNASET2):c.705C>A (p.Ser235Arg)	RNASET2 (S235R)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 2435443	NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del)	RNASET2 (K133del)	Microsatellite (inframe_deletion)	Cystic leukoencephalopathy without megalencephaly +1 more	GUncertain significance
Select item 2424750	NC_000006.11:g.(?_167369565)_(167369670_?)dup	RNASET2	Duplication	not provided	GUncertain significance
Select item 2424749	NC_000006.11:g.(?_167343076)_(167453466_?)del	CEP43, RNASET2	Deletion	not provided	GPathogenic
Select item 2424730	NM_003730.6(RNASET2):c.332+12C>G	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421050	NM_003730.6(RNASET2):c.446+8C>T	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2390167	NM_003730.6(RNASET2):c.500A>G (p.Asp167Gly)	RNASET2 (D167G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226214	NM_003730.6(RNASET2):c.326G>A (p.Arg109His)	RNASET2 (R109H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2217501	NM_003730.6(RNASET2):c.154C>T (p.Gln52Ter)	RNASET2 (Q52*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2210561	NM_003730.6(RNASET2):c.647C>T (p.Pro216Leu)	RNASET2 (P216L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206924	NM_003730.6(RNASET2):c.83T>C (p.Leu28Pro)	RNASET2 (L28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197892	NM_003730.6(RNASET2):c.446+20G>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194004	NM_003730.6(RNASET2):c.87-12A>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180887	NM_003730.6(RNASET2):c.31C>T (p.Leu11=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2178332	NM_003730.6(RNASET2):c.325C>T (p.Arg109Cys)	RNASET2 (R109C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175286	NM_003730.6(RNASET2):c.448G>T (p.Val150Leu)	RNASET2 (V150L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160361	NM_003730.6(RNASET2):c.87-9T>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2148852	NM_003730.6(RNASET2):c.291G>A (p.Trp97Ter)	RNASET2 (W97*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2140712	NM_003730.6(RNASET2):c.245A>G (p.Asn82Ser)	RNASET2 (N82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139217	NM_003730.6(RNASET2):c.160G>A (p.Asp54Asn)	RNASET2 (D54N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134073	NM_003730.6(RNASET2):c.10G>A (p.Ala4Thr)	RNASET2 (A4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123048	NM_003730.6(RNASET2):c.493-5A>G	RNASET2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2122841	NM_003730.6(RNASET2):c.521G>C (p.Arg174Thr)	RNASET2 (R174T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119877	NM_003730.6(RNASET2):c.523G>A (p.Val175Ile)	RNASET2 (V175I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112363	NM_003730.6(RNASET2):c.333-7C>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081377	NM_003730.6(RNASET2):c.351G>A (p.Lys117=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080584	NM_003730.6(RNASET2):c.600A>T (p.Glu200Asp)	RNASET2 (E200D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036682	NM_003730.6(RNASET2):c.568-19T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011198	NM_003730.6(RNASET2):c.446+16C>G	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006088	NM_003730.6(RNASET2):c.93C>T (p.Asn31=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004335	NM_003730.6(RNASET2):c.15C>T (p.Ala5=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987411	NM_003730.6(RNASET2):c.78G>A (p.Lys26=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986155	NM_003730.6(RNASET2):c.287A>G (p.Tyr96Cys)	RNASET2 (Y96C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977482	NM_003730.6(RNASET2):c.492+18T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970869	NM_003730.6(RNASET2):c.532G>A (p.Val178Met)	RNASET2 (V178M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964082	NM_003730.6(RNASET2):c.367G>A (p.Ala123Thr)	RNASET2 (A123T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959195	NM_003730.6(RNASET2):c.22G>C (p.Gly8Arg)	RNASET2 (G8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932645	NM_003730.6(RNASET2):c.732C>T (p.Gly244=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931209	NM_003730.6(RNASET2):c.590G>A (p.Gly197Asp)	RNASET2 (G197D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916673	NM_003730.6(RNASET2):c.668A>C (p.Lys223Thr)	RNASET2 (K223T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913542	NM_003730.6(RNASET2):c.640A>G (p.Thr214Ala)	RNASET2 (T214A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, C6orf118 +31 more	Copy number loss	not provided	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1671537	NM_003730.6(RNASET2):c.447-14A>T	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654995	NM_003730.6(RNASET2):c.261+14A>T	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646120	NM_003730.6(RNASET2):c.493-14G>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623144	NM_003730.6(RNASET2):c.261+17A>G	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1617911	NM_003730.6(RNASET2):c.147+12T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1602400	NM_003730.6(RNASET2):c.568-17T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600986	NM_003730.6(RNASET2):c.148-20T>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600728	NM_003730.6(RNASET2):c.446+17C>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1597860	NM_003730.6(RNASET2):c.147+20C>T	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1596938	NM_003730.6(RNASET2):c.642C>T (p.Thr214=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592980	NM_003730.6(RNASET2):c.320G>A (p.Arg107His)	RNASET2 (R107H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1583925	NM_003730.6(RNASET2):c.81C>G (p.Arg27=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1580219	NM_003730.6(RNASET2):c.446+19C>T	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572870	NM_003730.6(RNASET2):c.24G>A (p.Gly8=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565458	NM_003730.6(RNASET2):c.735A>T (p.Pro245=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565002	NM_003730.6(RNASET2):c.309G>A (p.Ser103=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551117	NM_003730.6(RNASET2):c.147+7_147+8del	RNASET2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1550565	NM_003730.6(RNASET2):c.297C>T (p.Asp99=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532189	NM_003730.6(RNASET2):c.568-20C>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1531665	NM_003730.6(RNASET2):c.446+12C>T	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528842	NM_003730.6(RNASET2):c.567+12dup	RNASET2	Duplication (intron variant)	not provided	GLikely benign
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic

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