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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626168	NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)	SKI (A579T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194209	NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)	STIL (V788I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 39457	NM_001111.5(ADAR):c.3337G>C (p.Asp1113His)	ADAR (D1113H +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 39459	NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe)	ADAR (Y1112F +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 39458	NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	ADAR (G1007R +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 39460	NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn)	ADAR (K999N +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 39455	NM_001111.5(ADAR):c.2675G>A (p.Arg892His)	ADAR, LOC126805874 (R892H +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 39461	NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)	ADAR, LOC126805874 (I872T +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 39456	NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr)	LOC126805874, ADAR (A870T +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 126395	NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	ADAR (P193A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 66927	NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)	LMNA (Q246* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 235004	NM_170707.4(LMNA):c.949G>T (p.Glu317Ter)	LMNA (E317* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 235005	NM_170707.4(LMNA):c.967_968del (p.Leu323fs)	LMNA (L242fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 66800	NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	LMNA (Q432* +2 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 43649	NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)	TNNT2 (R173Q +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 41935	NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)	B3GALNT2 (R292P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic/Likely pathogenic
Select item 41938	NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)	B3GALNT2 (V268M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 41937	NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)	B3GALNT2 (V252G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic/Likely pathogenic
Select item 41934	NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	B3GALNT2 (G247E +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GConflicting classifications of pathogenicity
Select item 235052	NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)	RYR2 (I4588T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
Select item 90492	NM_000251.1(MSH2):c.-4729_367-353del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90486	NM_000251.1(MSH2):c.-1753_645+922del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90497	NM_000251.1(MSH2):c.-956_1077-5607del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90496	NM_000251.1(MSH2):c.-823_1076+5984del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90490	NM_000251.1(MSH2):c.-433T>G	MSH2	Single nucleotide variant	Lynch syndrome	GBenign
Select item 90485	NM_000251.2(MSH2):c.-118T>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GBenign
Select item 90477	NM_000251.1(MSH2):c.(?_-68)_942+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90476	NM_000251.1(MSH2):c.(?_-68)_792+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90474	NM_000251.1(MSH2):c.(?_-68)_645+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90473	NM_000251.1(MSH2):c.(?_-68)_366+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90472	NM_000251.1(MSH2):c.(?_-68)_2634+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90471	NM_000251.1(MSH2):c.(?_-68)_211+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90470	NM_000251.1(MSH2):c.(?_-68)_1759+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90469	NM_000251.1(MSH2):c.(?_-68)_1661+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90468	NM_000251.1(MSH2):c.(?_-68)_1386+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90467	NM_000251.1(MSH2):c.(?_-68)_1276+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90465	NM_000251.2(MSH2):c.(?_-68)_1076+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 41650	NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)	MSH2 (A2T)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely benign
Select item 91181	NM_000251.3(MSH2):c.6G>T (p.Ala2=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 90918	NM_000251.3(MSH2):c.21dup (p.Thr8fs)	MSH2 (T8fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90886	NM_000251.3(MSH2):c.20del (p.Glu7fs)	MSH2 (E7fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91058	NM_000251.3(MSH2):c.29dup (p.Leu11fs)	MSH2 (L11fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91055	NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)	MSH2 (Q10*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91068	NM_000251.3(MSH2):c.34dup (p.Glu12fs)	MSH2 (E12fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91187	NM_000251.3(MSH2):c.71dup (p.Met26fs)	MSH2 (M26fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91193	NM_000251.3(MSH2):c.73_74insC (p.Gly25fs)	MSH2 (G25fs)	Insertion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91226	NM_000251.3(MSH2):c.82del (p.Glu28fs)	MSH2 (E28fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91225	NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)	MSH2 (E28*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91257	NM_000251.3(MSH2):c.94_103del (p.Thr32fs)	MSH2 (T32fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90546	NM_000251.3(MSH2):c.110del (p.Phe37fs)	MSH2 (F37fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90563	NM_000251.3(MSH2):c.119del (p.Gly40fs)	MSH2 (G40fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90621	NM_000251.3(MSH2):c.129T>G (p.Tyr43Ter)	MSH2 (Y43*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90639	NM_000251.3(MSH2):c.136_164del (p.His46fs)	MSH2 (H46fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90654	NM_000251.3(MSH2):c.138C>G (p.His46Gln)	MSH2 (H46Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 90662	NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)	MSH2 (E48*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90673	NM_000251.3(MSH2):c.145del (p.Asp49fs)	MSH2 (D49fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90672	NM_000251.3(MSH2):c.145_146del (p.Asp49fs)	MSH2 (D49fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90695	NM_000251.3(MSH2):c.154_155insG (p.Leu52fs)	MSH2 (L52fs)	Insertion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90712	NM_000251.3(MSH2):c.163del (p.Arg55fs)	MSH2 (R55fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90742	NM_000251.3(MSH2):c.166del (p.Glu56fs)	MSH2 (E56fs)	Deletion (frameshift variant +1 more)	Lynch syndrome +1 more	GPathogenic OOncogenic
Select item 90741	NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)	MSH2 (E56*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90794	NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)	MSH2 (Q61*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90809	NM_000251.3(MSH2):c.187dup (p.Val63fs)	MSH2 (V63fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90806	NM_000251.3(MSH2):c.186_187dup (p.Val63fs)	MSH2 (V63fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90808	NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)	MSH2	Deletion (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90871	NM_000251.3(MSH2):c.204del (p.Pro69fs)	MSH2 (P69fs +1 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90891	NM_000251.3(MSH2):c.211+98T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90889	NM_000251.1(MSH2):c.211+1566_1277-3954del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90894	NM_000251.3(MSH2):c.212-478T>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 90892	NM_000251.3(MSH2):c.212-1G>A	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90939	NM_000251.3(MSH2):c.223_224del (p.Leu75fs)	MSH2 (L75fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90945	NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)	MSH2 (Q76* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90953	NM_000251.3(MSH2):c.229_230del (p.Ser77fs)	MSH2 (S11fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90973	NM_000251.3(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Asp91delinsTer)	MSH2	Indel (nonsense)	Lynch syndrome	GPathogenic
Select item 90975	NM_000251.3(MSH2):c.244A>T (p.Lys82Ter)	MSH2 (K82* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91002	NM_000251.3(MSH2):c.255dup (p.Glu86Ter)	MSH2 (E86* +1 more)	Duplication (nonsense)	Lynch syndrome	GPathogenic
Select item 91001	NM_000251.3(MSH2):c.255_256del (p.Phe85fs)	MSH2 (F19fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91029	NM_000251.3(MSH2):c.263_264del (p.Phe88fs)	MSH2 (F88fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 1761	NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)	MSH2 (Y32fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91050	NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)	MSH2 (L94del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GBenign
Select item 91046	NM_000251.3(MSH2):c.278_279del (p.Leu93fs)	MSH2 (L93fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91053	NM_000251.3(MSH2):c.287G>A (p.Arg96His)	MSH2 (R96H +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 91054	NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)	MSH2 (Q97* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91059	NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)	MSH2 (E101* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 36575	NM_000251.3(MSH2):c.304G>A (p.Val102Ile)	MSH2 (V102I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 91062	NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)	MSH2 (R106K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36576	NM_000251.3(MSH2):c.339G>A (p.Lys113=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 91066	NM_000251.3(MSH2):c.344del (p.Asn115fs)	MSH2 (N115fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91067	NM_000251.3(MSH2):c.347_350del (p.Asp116fs)	MSH2 (D50fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91069	NM_000251.3(MSH2):c.352dup (p.Tyr118fs)	MSH2 (Y118fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91070	NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)	MSH2 (Y121* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91079	NM_000251.3(MSH2):c.367-681_646-956del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 91078	NM_000251.3(MSH2):c.367-466_645+658del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 91077	NM_000251.3(MSH2):c.367-452_646-722del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 91076	NM_000251.3(MSH2):c.367-371_646-513del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 91086	NM_000251.3(MSH2):c.368del (p.Ala123fs)	MSH2 (A123fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91088	NM_000251.3(MSH2):c.380_381del (p.Asn127fs)	MSH2 (N61fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 36577	NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)	MSH2 (N127S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign

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