ClinVar for MedGen (Select 82696) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506924	NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)	CHRNG (W140*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2506381	NM_005199.5(CHRNG):c.55+5G>A	CHRNG	Single nucleotide variant (intron variant)	Autosomal recessive multiple pterygium syndrome	GPathogenic
Select item 2506380	NM_005199.5(CHRNG):c.56-2A>G	CHRNG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive multiple pterygium syndrome	GPathogenic
Select item 2431590	NM_005199.5(CHRNG):c.350+4A>G	CHRNG	Single nucleotide variant (intron variant)	Autosomal recessive multiple pterygium syndrome	GUncertain significance
Select item 1804085	NM_005199.5(CHRNG):c.351-2A>G	CHRNG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1804084	NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)	CHRNG	Duplication (inframe_insertion)	not provided +1 more	GLikely pathogenic
Select item 1679376	NM_005199.5(CHRNG):c.814del (p.Gln272fs)	CHRNG (Q272fs)	Deletion (frameshift variant)	Autosomal recessive multiple pterygium syndrome	GPathogenic
Select item 1679273	NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter)	CHRNG (E205*)	Single nucleotide variant (nonsense)	Autosomal recessive multiple pterygium syndrome	GLikely pathogenic
Select item 1339682	NM_005199.5(CHRNG):c.1421G>A (p.Arg474His)	CHRNG, TIGD1 (R474H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive multiple pterygium syndrome +2 more	GUncertain significance
Select item 1326275	NM_005199.5(CHRNG):c.351-9T>C	CHRNG	Single nucleotide variant (intron variant)	CHRNG-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1299633	NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr)	CHRNG (S299T)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome	GLikely pathogenic
Select item 1049187	NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro)	CHRNG (S338P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1031515	NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln)	CHRNG (R46Q)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome	GUncertain significance
Select item 983491	NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)	CHRNG (R332W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 930743	NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)	TIGD1, CHRNG (W381*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 899208	NM_145702.4(TIGD1):c.*2197C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 899207	NM_145702.4(TIGD1):c.*2210A>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 899141	NM_005199.5(CHRNG):c.1178T>C (p.Leu393Pro)	CHRNG, TIGD1 (L393P)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 899140	NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu)	CHRNG, TIGD1 (S382L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 899086	NM_005199.5(CHRNG):c.708C>T (p.Leu236=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899085	NM_005199.5(CHRNG):c.573G>A (p.Glu191=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899019	NM_005199.5(CHRNG):c.239T>C (p.Met80Thr)	CHRNG (M80T)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 899018	NM_005199.5(CHRNG):c.234A>T (p.Ile78=)	CHRNG	Single nucleotide variant (synonymous variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 898160	NM_145702.4(TIGD1):c.*1798A>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 898159	NM_145702.4(TIGD1):c.*1799G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 898086	NM_145702.4(TIGD1):c.*2322A>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 898085	NM_145702.4(TIGD1):c.*2384G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 898025	NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln)	CHRNG, TIGD1 (R373Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 898024	NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn)	CHRNG, TIGD1 (D369N)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 898023	NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile)	CHRNG, TIGD1 (V359I)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome +2 more	GUncertain significance
Select item 897951	NM_005199.5(CHRNG):c.507-12G>A	CHRNG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897878	NM_005199.5(CHRNG):c.195+14C>T	CHRNG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897877	NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr)	CHRNG (K56T)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 897876	NM_005199.5(CHRNG):c.132G>A (p.Ala44=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897730	NM_000751.3(CHRND):c.*365C>A	CHRNG, CHRND	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 896328	NM_005199.5(CHRNG):c.440G>T (p.Arg147Leu)	CHRNG (R147L)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 896327	NM_005199.5(CHRNG):c.426G>A (p.Pro142=)	CHRNG	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 896266	NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys)	CHRNG (R28C)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 895094	NM_145702.4(TIGD1):c.*2003C>G	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 895093	NM_145702.4(TIGD1):c.*2040C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 895092	NM_145702.4(TIGD1):c.*2100G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 895091	NM_145702.4(TIGD1):c.*2184A>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 895090	NM_145702.4(TIGD1):c.*2190C>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 895020	NM_005199.5(CHRNG):c.1227G>A (p.Val409=)	TIGD1, CHRNG	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 894889	NM_005199.5(CHRNG):c.394G>A (p.Val132Met)	CHRNG (V132M)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 894820	NM_005199.5(CHRNG):c.5A>T (p.His2Leu)	CHRNG (H2L)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 816828	NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)	CHRNG (Q81*)	Single nucleotide variant (nonsense)	Autosomal recessive multiple pterygium syndrome	GPathogenic
Select item 801911	NM_005199.5(CHRNG):c.921-68del	CHRNG	Deletion (intron variant)	not provided +1 more	GBenign
Select item 800757	NM_005199.5(CHRNG):c.1366_1367del (p.His457fs)	TIGD1, CHRNG (H457fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive multiple pterygium syndrome	GLikely pathogenic
Select item 618567	NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)	CHRNG (R92*)	Single nucleotide variant (nonsense)	Autosomal recessive multiple pterygium syndrome +2 more	GPathogenic/Likely pathogenic
Select item 548021	NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	CHRNG (R68*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 497740	NM_005199.5(CHRNG):c.330G>A (p.Pro110=)	CHRNG	Single nucleotide variant (synonymous variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 449338	NM_005199.5(CHRNG):c.459dup (p.Val154fs)	CHRNG (V154fs)	Duplication (frameshift variant)	Autosomal recessive multiple pterygium syndrome +4 more	GPathogenic
Select item 433175	NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn)	CHRNG (D84N)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 431955	NM_005199.5(CHRNG):c.397del (p.Ser133fs)	CHRNG (S133fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 423846	NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)	CHRNG (A44T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 419026	NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)	CHRNG (P134fs)	Deletion (frameshift variant)	Autosomal recessive multiple pterygium syndrome +3 more	GPathogenic
Select item 397615	NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	CHRNG (R86C)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376837	NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)	CHRNG (R42Q)	Single nucleotide variant (missense variant)	CHRNG-related condition +4 more	GConflicting classifications of pathogenicity
Select item 335028	NM_005199.5(CHRNG):c.609_612dup	CHRNG, TIGD1	Duplication (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome	GUncertain significance
Select item 335027	NM_005199.5(CHRNG):c.611_612dup	CHRNG, TIGD1	Duplication (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome	GUncertain significance
Select item 335026	NM_005199.5(CHRNG):c.592_598del	CHRNG, TIGD1	Deletion (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome	GLikely benign
Select item 335025	NM_005199.5(CHRNG):c.591_592insTT	CHRNG, TIGD1	Insertion (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome	GUncertain significance
Select item 335024	NM_005199.5(CHRNG):c.589_590dup	CHRNG, TIGD1	Duplication (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome	GUncertain significance
Select item 335023	NM_005199.5(CHRNG):c.*568C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GBenign
Select item 335022	NM_005199.5(CHRNG):c.*508T>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 335021	NM_005199.5(CHRNG):c.*496A>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GBenign
Select item 335020	NM_005199.5(CHRNG):c.*477C>A	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GBenign/Likely benign
Select item 335019	NM_005199.5(CHRNG):c.*131C>T	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 335018	NM_005199.5(CHRNG):c.*126C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 335017	NM_005199.5(CHRNG):c.*77T>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GBenign/Likely benign
Select item 335016	NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys)	CHRNG, TIGD1 (R510C)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 335015	NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile)	CHRNG, TIGD1 (V475I)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 335014	NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp)	CHRNG, TIGD1 (N460D)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 335013	NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu)	CHRNG, TIGD1 (P420L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335012	NM_005199.5(CHRNG):c.1230G>A (p.Ala410=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335011	NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp)	CHRNG, TIGD1 (R405W)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 335010	NM_005199.5(CHRNG):c.1074C>T (p.His358=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 335009	NM_145702.4(TIGD1):c.*3743AG[2]	CHRNG, TIGD1	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335008	NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys)	CHRNG (R344C)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GUncertain significance
Select item 335007	NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)	CHRNG (T310S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 335006	NM_005199.5(CHRNG):c.806-13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335005	NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn)	CHRNG (I246N)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GUncertain significance
Select item 335004	NM_005199.5(CHRNG):c.474C>T (p.Pro158=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335003	NM_005199.5(CHRNG):c.460G>A (p.Val154Ile)	CHRNG (V154I)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GUncertain significance
Select item 335002	NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys)	CHRNG (E123K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335001	NM_005199.5(CHRNG):c.357C>T (p.Asp119=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335000	NM_005199.5(CHRNG):c.196-9C>T	CHRNG	Single nucleotide variant (intron variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 334999	NM_005199.5(CHRNG):c.129C>T (p.Pro43=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334998	NM_005199.5(CHRNG):c.57G>C (p.Gly19=)	CHRNG	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 334993	NM_000751.3(CHRND):c.*1025A>G	CHRND	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 334991	NM_000751.3(CHRND):c.*885T>C	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 334987	NM_000751.3(CHRND):c.623_627dup	CHRND	Duplication (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 334985	NM_000751.3(CHRND):c.*547G>C	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 334983	NM_000751.3(CHRND):c.*424C>T	CHRND	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 334979	NM_000751.3(CHRND):c.*149A>G	CHRND	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +3 more	GConflicting classifications of pathogenicity
Select item 334977	NM_000751.3(CHRND):c.144_145insAG	CHRND	Insertion (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 334975	NM_000751.3(CHRND):c.*52A>G	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 332445	NM_000079.4(CHRNA1):c.779-13_779-12del	CHRNA1	Deletion (intron variant)	Autosomal recessive multiple pterygium syndrome +2 more	GBenign
Select item 332444	NM_000079.4(CHRNA1):c.779-12del	CHRNA1	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

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