ClinVar for MedGen (Select 18014) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075260	NM_000268.4(NF2):c.1685A>C (p.His562Pro)	NF2 (H384P +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3075126	NM_000268.4(NF2):c.79G>A (p.Val27Ile)	NF2 (V27I)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3074912	NM_000268.4(NF2):c.57C>T (p.Pro19=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 3074905	NM_000268.4(NF2):c.760A>G (p.Ile254Val)	NF2 (I171V +6 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3074401	NM_000268.4(NF2):c.888T>G (p.Ile296Met)	NF2 (I118M +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3073828	NM_000268.4(NF2):c.1621G>A (p.Glu541Lys)	NF2 (E363K +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3073342	NM_000268.4(NF2):c.241-7T>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 3073311	NM_000268.4(NF2):c.1614G>C (p.Gln538His)	NF2 (Q360H +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3073270	NM_000268.4(NF2):c.596C>A (p.Ala199Asp)	NF2 (A116D +6 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3072858	NM_000268.4(NF2):c.1106T>C (p.Met369Thr)	NF2 (M191T +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3072708	NM_000268.4(NF2):c.327G>C (p.Leu109=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 3072581	NM_000268.4(NF2):c.1431C>G (p.Thr477=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 3072541	NM_000268.4(NF2):c.279C>G (p.Thr93=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 3072476	NM_000268.4(NF2):c.1527C>A (p.Phe509Leu)	NF2 (F423L +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3071979	NM_000268.4(NF2):c.811-15G>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 3071805	NM_000268.4(NF2):c.508C>T (p.Pro170Ser)	NF2 (P128S +5 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3071708	NM_000268.4(NF2):c.1593del (p.Ser532fs)	NF2 (S354fs +8 more)	Deletion (frameshift variant +1 more)	Neurofibromatosis, type 2	GLikely pathogenic
Select item 3071458	NM_000268.4(NF2):c.1647G>T (p.Leu549Phe)	NF2 (L371F +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3071447	NM_000268.4(NF2):c.686G>A (p.Gly229Asp)	NF2 (G146D +6 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3071265	NM_000268.4(NF2):c.810+6A>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 3071214	NM_000268.4(NF2):c.1118C>A (p.Ala373Glu)	NF2 (A195E +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3071172	NM_000268.4(NF2):c.243A>G (p.Val81=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 3070608	NM_000268.4(NF2):c.788A>G (p.Asn263Ser)	NF2 (N180S +6 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3069664	NM_000268.4(NF2):c.447+5G>A	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GUncertain significance
Select item 3069651	NM_000268.4(NF2):c.466A>T (p.Ser156Cys)	NF2 (S114C +5 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3069482	NM_000268.4(NF2):c.493C>A (p.Gln165Lys)	NF2 (Q123K +5 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3021669	NM_000268.4(NF2):c.1498C>T (p.Leu500Phe)	NF2 (L322F +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 3014775	NM_000268.4(NF2):c.1446+13G>A	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 3008905	NM_000268.4(NF2):c.363+24dup	NF2	Duplication (intron variant)	Neurofibromatosis, type 2	GBenign
Select item 3001236	NM_000268.4(NF2):c.973G>A (p.Ala325Thr)	NF2 (A248T +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2994428	NM_000268.4(NF2):c.476A>G (p.Lys159Arg)	NF2 (K117R +5 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2991450	NM_000268.4(NF2):c.903C>A (p.Ile301=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2990689	NM_000268.4(NF2):c.686G>T (p.Gly229Val)	NF2 (G146V +6 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2985057	NM_000268.4(NF2):c.1025A>C (p.Glu342Ala)	NF2 (E164A +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2984516	NM_000268.4(NF2):c.810+17C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2981210	NM_000268.4(NF2):c.1123-13C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2968540	NM_000268.4(NF2):c.609T>G (p.Ala203=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2966642	NM_000268.4(NF2):c.1263G>A (p.Glu421=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2966161	NM_000268.4(NF2):c.1718A>G (p.Lys573Arg)	NF2 (K395R +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2964184	NM_000268.4(NF2):c.937G>A (p.Ala313Thr)	NF2 (A135T +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2963965	NM_000268.4(NF2):c.337A>T (p.Ile113Phe)	NF2 (I75F +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2963500	NM_000268.4(NF2):c.447+20A>G	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2962673	NM_000268.4(NF2):c.1074G>A (p.Arg358=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2920061	NM_000268.4(NF2):c.517-15T>A	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2915620	NM_000268.4(NF2):c.886-6C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2915551	NM_000268.4(NF2):c.26T>C (p.Met9Thr)	NF2 (M9T)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2914563	NM_000268.4(NF2):c.810+13T>A	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GUncertain significance
Select item 2914086	NM_000268.4(NF2):c.472C>T (p.His158Tyr)	NF2 (H117Y +5 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2913130	NM_000268.4(NF2):c.601G>A (p.Asp201Asn)	NF2 (D201N +6 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2912660	NM_000268.4(NF2):c.145T>A (p.Leu49Met)	NF2 (L49M +1 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2909842	NM_000268.4(NF2):c.1529A>T (p.Lys510Ile)	NF2 (K465I +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2905094	NM_000268.4(NF2):c.1737+11T>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2904150	NM_000268.4(NF2):c.241-16C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2902077	NM_000268.4(NF2):c.1459A>T (p.Ile487Phe)	NF2 (I309F +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2901896	NM_000268.4(NF2):c.275T>C (p.Val92Ala)	NF2 (V15A +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2901281	NM_000268.4(NF2):c.115-16T>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2896300	NM_000268.4(NF2):c.1737+17_1737+20del	NF2	Microsatellite (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2896145	NM_000268.4(NF2):c.668C>T (p.Ala223Val)	NF2 (A140V +6 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2894832	NM_000268.4(NF2):c.942T>C (p.Asp314=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2886883	NM_000268.4(NF2):c.526C>T (p.Leu176=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2885480	NM_000268.4(NF2):c.517-16C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2885274	NM_000268.4(NF2):c.250C>T (p.His84Tyr)	NF2 (H42Y +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2884693	NM_000268.4(NF2):c.1280A>G (p.Glu427Gly)	NF2 (E341G +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2884177	NM_000268.4(NF2):c.244C>T (p.Leu82=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2883916	NM_000268.4(NF2):c.240+7C>T	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2883529	NM_000268.4(NF2):c.1447-4A>G	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GUncertain significance
Select item 2882682	NM_000268.4(NF2):c.837A>C (p.Lys279Asn)	NF2 (K234N +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2879596	NM_000268.4(NF2):c.1658A>C (p.Glu553Ala)	NF2 (E467A +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2877421	NM_000268.4(NF2):c.240+16G>C	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2876755	NM_000268.4(NF2):c.1248G>T (p.Ala416=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2876517	NM_000268.4(NF2):c.1122+17T>G	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2872429	NM_000268.4(NF2):c.728_745del (p.Ile243_Asn248del)	NF2	Deletion (inframe_deletion +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2865333	NM_000268.4(NF2):c.118A>T (p.Lys40Ter)	NF2 (K40* +1 more)	Single nucleotide variant (nonsense +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 2858175	NM_000268.4(NF2):c.676-7T>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2857134	NM_000268.4(NF2):c.1738-20T>G	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2857116	NM_000268.4(NF2):c.97A>G (p.Met33Val)	NF2 (M33V)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2856980	NM_000268.4(NF2):c.1475C>G (p.Pro492Arg)	NF2 (P415R +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2856162	NM_000268.4(NF2):c.643G>T (p.Glu215Ter)	NF2 (E132* +6 more)	Single nucleotide variant (nonsense +1 more)	Neurofibromatosis, type 2	GPathogenic
Select item 2856027	NM_000268.4(NF2):c.1068G>A (p.Leu356=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2855399	NM_000268.4(NF2):c.675+18T>A	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2854896	NM_000268.4(NF2):c.1000-17T>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2854197	NM_000268.4(NF2):c.885+9A>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2851524	NM_000268.4(NF2):c.917T>C (p.Leu306Pro)	NF2 (L264P +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2850191	NM_000268.4(NF2):c.1446+18C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2849757	NM_000268.4(NF2):c.676-18T>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2845340	NM_000268.4(NF2):c.383A>G (p.Asp128Gly)	NF2 (D45G +5 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2842039	NM_000268.4(NF2):c.643del (p.Glu215fs)	NF2 (E138fs +6 more)	Deletion (frameshift variant +1 more)	Neurofibromatosis, type 2	GPathogenic
Select item 2842037	NM_000268.4(NF2):c.1623A>C (p.Glu541Asp)	NF2 (E499D +8 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2841685	NM_000268.4(NF2):c.363+16C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2838669	NM_000268.4(NF2):c.115-17T>G	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GUncertain significance
Select item 2838602	NM_000268.4(NF2):c.1514del (p.Leu505fs)	NF2 (L460fs +8 more)	Deletion (frameshift variant +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 2838592	NM_000268.4(NF2):c.290del (p.Leu97fs)	NF2 (L20fs +3 more)	Deletion (frameshift variant +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 2834043	NM_000268.4(NF2):c.810+11T>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2832057	NM_000268.4(NF2):c.1746G>A (p.Leu582=)	NF2 (C445Y +1 more)	Single nucleotide variant (synonymous variant +3 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2831995	NM_000268.4(NF2):c.999+2_999+3del	NF2	Deletion (splice donor variant +1 more)	Neurofibromatosis, type 2	GPathogenic
Select item 2831397	NM_000268.4(NF2):c.104T>G (p.Phe35Cys)	NF2 (F35C)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2830582	NM_000268.4(NF2):c.1446+1396C>G	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GUncertain significance
Select item 2830577	NM_000268.4(NF2):c.1446+1308C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign
Select item 2830037	NM_000268.4(NF2):c.581A>G (p.Glu194Gly)	NF2 (E117G +6 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2828993	NM_000268.4(NF2):c.1575-5G>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely benign

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