21686[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	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 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 59550	GRCh38/hg38 6q27(chr6:166907168-167368489)x3	CCR6, CEP43 +42 more	Copy number gain	See cases	GUncertain significance
Select item 1359562	NM_003730.6(RNASET2):c.763_*4del (p.Lys255fs)	RNASET2 (K255fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 757404	NM_003730.6(RNASET2):c.765G>A (p.Lys255=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477090	NM_003730.6(RNASET2):c.751C>T (p.Pro251Ser)	RNASET2 (P251S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 813909	NM_003730.6(RNASET2):c.748C>T (p.Pro250Ser)	RNASET2 (P250S)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 356026	NM_003730.6(RNASET2):c.741C>A (p.Phe247Leu)	RNASET2 (F247L)	Single nucleotide variant (missense variant)	not provided +1 more	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 1932645	NM_003730.6(RNASET2):c.732C>T (p.Gly244=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436545	NM_003730.6(RNASET2):c.710dup (p.Leu238fs)	RNASET2 (L238fs)	Duplication (frameshift variant)	Cystic leukoencephalopathy without megalencephaly +1 more	GConflicting classifications of pathogenicity
Select item 716206	NM_003730.6(RNASET2):c.707G>A (p.Arg236Gln)	RNASET2 (R236Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 356027	NM_003730.6(RNASET2):c.706C>T (p.Arg236Trp)	RNASET2 (R236W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 3016588	NM_003730.6(RNASET2):c.699C>T (p.Ala233=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776184	NM_003730.6(RNASET2):c.697G>A (p.Ala233Thr)	RNASET2 (A233T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 735217	NM_003730.6(RNASET2):c.696C>T (p.Ala232=)	RNASET2	Single nucleotide variant (synonymous variant)	Cystic leukoencephalopathy without megalencephaly +1 more	GBenign/Likely benign
Select item 1501895	NM_003730.6(RNASET2):c.680G>C (p.Trp227Ser)	RNASET2 (W227S)	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 3314651	NM_003730.6(RNASET2):c.664C>T (p.Pro222Ser)	RNASET2 (P222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712409	NM_003730.6(RNASET2):c.662C>A (p.Ser221Tyr)	RNASET2 (S221Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786739	NM_003730.6(RNASET2):c.660G>A (p.Pro220=)	RNASET2	Single nucleotide variant (synonymous variant)	Cystic leukoencephalopathy without megalencephaly +1 more	GConflicting classifications of pathogenicity
Select item 751021	NM_003730.6(RNASET2):c.660G>T (p.Pro220=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 356028	NM_003730.6(RNASET2):c.652G>A (p.Glu218Lys)	RNASET2 (E218K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907287	NM_003730.6(RNASET2):c.648G>C (p.Pro216=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356029	NM_003730.6(RNASET2):c.648G>A (p.Pro216=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1409512	NM_003730.6(RNASET2):c.647C>G (p.Pro216Arg)	RNASET2 (P216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356030	NM_003730.6(RNASET2):c.643G>A (p.Glu215Lys)	RNASET2 (E215K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1596938	NM_003730.6(RNASET2):c.642C>T (p.Thr214=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1040471	NM_003730.6(RNASET2):c.610A>G (p.Thr204Ala)	RNASET2 (T204A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1358822	NM_003730.6(RNASET2):c.601C>G (p.Leu201Val)	RNASET2 (L201V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1931209	NM_003730.6(RNASET2):c.590G>A (p.Gly197Asp)	RNASET2 (G197D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 903948	NM_003730.6(RNASET2):c.568-4T>C	RNASET2	Single nucleotide variant (intron variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 1602400	NM_003730.6(RNASET2):c.568-17T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2036682	NM_003730.6(RNASET2):c.568-19T>C	RNASET2	Single nucleotide variant (intron 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 1528842	NM_003730.6(RNASET2):c.567+12dup	RNASET2	Duplication (intron variant)	not provided	GLikely benign
Select item 417	NM_003730.6(RNASET2):c.567G>A (p.Gln189=)	RNASET2	Single nucleotide variant (synonymous variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 903949	NM_003730.6(RNASET2):c.563G>T (p.Ser188Ile)	RNASET2 (S188I)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance
Select item 412	NM_003730.6(RNASET2):c.550T>C (p.Cys184Arg)	RNASET2 (C184R)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
Select item 356031	NM_003730.6(RNASET2):c.534G>A (p.Val178=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2119877	NM_003730.6(RNASET2):c.523G>A (p.Val175Ile)	RNASET2 (V175I)	Single nucleotide variant (missense 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 356032	NM_003730.6(RNASET2):c.516T>C (p.Leu172=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 797361	NM_003730.6(RNASET2):c.510T>C (p.Asp170=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2390167	NM_003730.6(RNASET2):c.500A>G (p.Asp167Gly)	RNASET2 (D167G)	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 2123048	NM_003730.6(RNASET2):c.493-5A>G	RNASET2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1646120	NM_003730.6(RNASET2):c.493-14G>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977482	NM_003730.6(RNASET2):c.492+18T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1671537	NM_003730.6(RNASET2):c.447-14A>T	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2571268	NM_003730.6(RNASET2):c.446+131G>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2197892	NM_003730.6(RNASET2):c.446+20G>A	RNASET2	Single nucleotide variant (intron 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 1600728	NM_003730.6(RNASET2):c.446+17C>A	RNASET2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2011198	NM_003730.6(RNASET2):c.446+16C>G	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531665	NM_003730.6(RNASET2):c.446+12C>T	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 782746	NM_003730.6(RNASET2):c.426C>T (p.Tyr142=)	RNASET2	Single nucleotide variant (synonymous variant)	Cystic leukoencephalopathy without megalencephaly +1 more	GBenign
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 745323	NM_003730.6(RNASET2):c.381G>A (p.Ala127=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 356033	NM_003730.6(RNASET2):c.380C>T (p.Ala127Val)	RNASET2 (A127V)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	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 745948	NM_003730.6(RNASET2):c.366C>T (p.Ala122=)	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 356034	NM_003730.6(RNASET2):c.360C>A (p.Thr120=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2081377	NM_003730.6(RNASET2):c.351G>A (p.Lys117=)	RNASET2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370346	NM_003730.6(RNASET2):c.346G>A (p.Glu116Lys)	RNASET2 (E116K)	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 2830206	NM_003730.6(RNASET2):c.332+16T>C	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2424730	NM_003730.6(RNASET2):c.332+12C>G	RNASET2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 415	NM_003730.6(RNASET2):c.332+1del	RNASET2	Deletion (splice donor variant)	Cystic leukoencephalopathy without megalencephaly	GPathogenic
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 2178332	NM_003730.6(RNASET2):c.325C>T (p.Arg109Cys)	RNASET2 (R109C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356035	NM_003730.6(RNASET2):c.325C>A (p.Arg109Ser)	RNASET2 (R109S)	Single nucleotide variant (missense variant)	Cystic leukoencephalopathy without megalencephaly	GUncertain significance

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