ClinVar for MedGen (Select 82696) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3586184	NM_005199.5(CHRNG):c.1380+1G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586183	NM_005199.5(CHRNG):c.1354del (p.Arg452fs)	CHRNG, TIGD1 (R452fs)	Deletion (frameshift variant +1 more)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586182	NM_005199.5(CHRNG):c.1256_1263del (p.Gly419fs)	CHRNG, TIGD1 (G419fs)	Deletion (frameshift variant +1 more)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586181	NM_005199.5(CHRNG):c.1035+2C>G	CHRNG	Single nucleotide variant (splice donor variant)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586180	NM_005199.5(CHRNG):c.1035+2C>A	CHRNG	Single nucleotide variant (splice donor variant)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586179	NM_005199.5(CHRNG):c.920+2_920+5del	CHRNG	Deletion (splice donor variant)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586178	NM_005199.5(CHRNG):c.754del (p.Cys252fs)	CHRNG (C252fs)	Deletion (frameshift variant)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586177	NM_005199.5(CHRNG):c.493_494delinsCAGTGAGGCCATTTATTGGGGAGG (p.Ser165delinsGlnTer)	CHRNG, LOC129935864	Indel (nonsense)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586176	NM_005199.5(CHRNG):c.482G>A (p.Trp161Ter)	CHRNG (W161*)	Single nucleotide variant (nonsense)	Autosomal recessive multiple pterygium syndrome +1 more	GPathogenic
Select item 3586175	NM_005199.5(CHRNG):c.350+2T>C	CHRNG	Single nucleotide variant (splice donor variant)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586174	NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter)	CHRNG (C83*)	Single nucleotide variant (nonsense)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586173	NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter)	CHRNG (W82*)	Single nucleotide variant (nonsense)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586172	NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter)	CHRNG (K56*)	Single nucleotide variant (nonsense)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586171	NM_005199.5(CHRNG):c.145del (p.Asp49fs)	CHRNG (D49fs)	Deletion (frameshift variant)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586170	NM_005199.5(CHRNG):c.11dup (p.Gln5fs)	CHRNG (Q5fs)	Duplication (frameshift variant)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3586169	NM_005199.5(CHRNG):c.2T>C (p.Met1Thr)	CHRNG (M1T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 3391317	NM_005199.5(CHRNG):c.1010_1011del (p.His337fs)	CHRNG (H337fs)	Microsatellite (frameshift variant)	Autosomal recessive multiple pterygium syndrome	GLikely pathogenic
Select item 2997713	NM_005199.5(CHRNG):c.805+1G>A	CHRNG	Single nucleotide variant (splice donor variant)	Autosomal recessive multiple pterygium syndrome +2 more	GLikely pathogenic
Select item 2859850	NM_005199.5(CHRNG):c.807dup (p.Gly270fs)	CHRNG (G270fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 2771045	NM_005199.5(CHRNG):c.402del (p.Asp135fs)	CHRNG (D135fs)	Deletion (frameshift variant)	Lethal multiple pterygium syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2727690	NM_005199.5(CHRNG):c.1081_1102del (p.Pro361fs)	CHRNG, TIGD1 (P361fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2719799	NM_005199.5(CHRNG):c.532_533del (p.Glu177_Ile178insTer)	CHRNG	Deletion (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 2458845	NM_005199.5(CHRNG):c.257G>A (p.Arg86His)	CHRNG (R86H)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +1 more	GConflicting classifications of pathogenicity
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 +2 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)	not specified +2 more	GUncertain significance
Select item 1326275	NM_005199.5(CHRNG):c.351-9T>C	CHRNG	Single nucleotide variant (intron variant)	Autosomal recessive multiple pterygium syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1322085	NM_005199.5(CHRNG):c.56-1G>A	CHRNG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive multiple pterygium syndrome +2 more	GPathogenic
Select item 1320054	NM_005199.5(CHRNG):c.240+1del	CHRNG	Deletion (splice donor variant)	Lethal multiple pterygium syndrome +1 more	GPathogenic/Likely pathogenic
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)	Lethal multiple pterygium syndrome +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 +1 more	GUncertain significance
Select item 983491	NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)	CHRNG (R332W)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +3 more	GConflicting classifications of pathogenicity
Select item 983419	NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys)	CHRNG (R147C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 930743	NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)	CHRNG, TIGD1 (W381*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 899208	NM_005199.5(CHRNG):c.*194G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 899207	NM_005199.5(CHRNG):c.*181T>C	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive 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)	Autosomal recessive 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)	Lethal multiple pterygium syndrome +3 more	GUncertain significance
Select item 899086	NM_005199.5(CHRNG):c.708C>T (p.Leu236=)	CHRNG	Single nucleotide variant (synonymous variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 899085	NM_005199.5(CHRNG):c.573G>A (p.Glu191=)	CHRNG	Single nucleotide variant (synonymous variant)	Autosomal recessive multiple pterygium syndrome +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_005199.5(CHRNG):c.*593T>C	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 898159	NM_005199.5(CHRNG):c.*592C>T	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 898086	NM_005199.5(CHRNG):c.*69T>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 898085	NM_005199.5(CHRNG):c.*7C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 898025	NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln)	TIGD1, CHRNG (R373Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive multiple pterygium syndrome +2 more	GUncertain significance
Select item 898024	NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn)	TIGD1, CHRNG (D369N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive 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)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 897878	NM_005199.5(CHRNG):c.195+14C>T	CHRNG	Single nucleotide variant (intron variant)	Autosomal recessive multiple pterygium syndrome +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)	Autosomal recessive 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)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 897730	NM_000751.3(CHRND):c.*365C>A	CHRND, CHRNG	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)	Autosomal recessive 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 895094	NM_005199.5(CHRNG):c.*388G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 895093	NM_005199.5(CHRNG):c.*351G>A	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 895092	NM_005199.5(CHRNG):c.*291C>G	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 895091	NM_005199.5(CHRNG):c.*207T>C	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +2 more	GUncertain significance
Select item 895090	NM_005199.5(CHRNG):c.*201G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Lethal 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)	Lethal 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)	Autosomal recessive multiple pterygium syndrome +2 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)	CHRNG, TIGD1 (H457fs)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 692272	NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)	CHRNG (I237K)	Indel (missense variant)	Autosomal recessive multiple pterygium syndrome +3 more	GLikely pathogenic
Select item 618567	NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)	CHRNG (R92*)	Single nucleotide variant (nonsense)	Lethal 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)	Lethal multiple pterygium syndrome +5 more	GPathogenic/Likely pathogenic
Select item 497740	NM_005199.5(CHRNG):c.330G>A (p.Pro110=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +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 +3 more	GPathogenic
Select item 433175	NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn)	CHRNG (D84N)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 431955	NM_005199.5(CHRNG):c.397del (p.Ser133fs)	CHRNG (S133fs)	Deletion (frameshift variant)	Autosomal recessive multiple pterygium syndrome +2 more	GPathogenic
Select item 423846	NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)	CHRNG (A44T)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 419026	NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)	CHRNG (P134fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 397615	NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	CHRNG (R86C)	Single nucleotide variant (missense variant)	Peripheral neuropathy +3 more	GPathogenic/Likely pathogenic
Select item 376837	NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)	CHRNG (R42Q)	Single nucleotide variant (missense variant)	not provided +3 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 +1 more	GUncertain significance
Select item 335027	NM_005199.5(CHRNG):c.611_612dup	TIGD1, CHRNG	Duplication (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +1 more	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)	not provided +2 more	GBenign
Select item 335022	NM_005199.5(CHRNG):c.*508T>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive 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)	Autosomal recessive multiple pterygium syndrome +2 more	GBenign
Select item 335020	NM_005199.5(CHRNG):c.*477C>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive multiple pterygium syndrome +2 more	GBenign/Likely benign
Select item 335019	NM_005199.5(CHRNG):c.*131C>T	CHRNG, TIGD1	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)	not provided +2 more	GBenign/Likely benign
Select item 335016	NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys)	CHRNG, TIGD1 (R510C)	Single nucleotide variant (missense variant)	Autosomal recessive 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)	Inborn genetic diseases +2 more	GUncertain significance

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