Related gene-specific medical variations for Gene (Select 200765) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267196	NM_005199.5(CHRNG):c.1094C>G (p.Ala365Gly)	CHRNG, TIGD1 (A365G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144687	NM_005199.5(CHRNG):c.1420C>T (p.Arg474Cys)	CHRNG, TIGD1 (R474C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144686	NM_005199.5(CHRNG):c.1355G>A (p.Arg452Gln)	CHRNG, TIGD1 (R452Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144685	NM_005199.5(CHRNG):c.1297C>G (p.Gln433Glu)	CHRNG, TIGD1 (Q433E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144684	NM_005199.5(CHRNG):c.1193T>A (p.Leu398His)	CHRNG, TIGD1 (L398H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3021095	NM_005199.5(CHRNG):c.1437C>T (p.Ala479=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018372	NM_005199.5(CHRNG):c.1381-14C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3015698	NM_005199.5(CHRNG):c.1249+8A>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3010403	NM_005199.5(CHRNG):c.1506C>T (p.Ala502=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001153	NM_005199.5(CHRNG):c.1296G>A (p.Lys432=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988290	NM_005199.5(CHRNG):c.1260G>A (p.Pro420=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983540	NM_005199.5(CHRNG):c.1155T>C (p.Thr385=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979245	NM_005199.5(CHRNG):c.1380+18G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2976590	NM_005199.5(CHRNG):c.1381-6C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2970840	NM_005199.5(CHRNG):c.1137G>A (p.Ser379=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964062	NM_005199.5(CHRNG):c.1249+14G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2961644	NM_005199.5(CHRNG):c.1230G>C (p.Ala410=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960933	NM_005199.5(CHRNG):c.1242G>A (p.Glu414=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956553	NM_005199.5(CHRNG):c.1380+20G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2956041	NM_005199.5(CHRNG):c.1542C>A (p.Pro514=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2919325	NM_005199.5(CHRNG):c.1250-1G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2915742	NM_005199.5(CHRNG):c.1059G>A (p.Gln353=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2912511	NM_005199.5(CHRNG):c.1380+13A>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2909366	NM_005199.5(CHRNG):c.1503G>A (p.Pro501=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909273	NM_005199.5(CHRNG):c.1305C>T (p.Ala435=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881182	NM_005199.5(CHRNG):c.1131C>T (p.Gly377=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879208	NM_005199.5(CHRNG):c.1428C>T (p.Cys476=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877098	NM_005199.5(CHRNG):c.1249+16T>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2869333	NM_005199.5(CHRNG):c.1250-9C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2867042	NM_005199.5(CHRNG):c.1092G>A (p.Pro364=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2862202	NM_005199.5(CHRNG):c.1123C>T (p.Gln375Ter)	CHRNG, TIGD1 (Q375*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2859410	NM_005199.5(CHRNG):c.1260G>C (p.Pro420=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856826	NM_005199.5(CHRNG):c.1286_1289del (p.Gly429fs)	CHRNG, TIGD1 (G429fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2856183	NM_005199.5(CHRNG):c.1512A>T (p.Pro504=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854325	NM_005199.5(CHRNG):c.1381-6C>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2853202	NM_005199.5(CHRNG):c.1381-12T>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2851902	NM_005199.5(CHRNG):c.1380+18G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2846911	NM_005199.5(CHRNG):c.1041C>T (p.Phe347=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2842775	NM_005199.5(CHRNG):c.1381-8A>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2836020	NM_005199.5(CHRNG):c.1553G>A (p.Ter518=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833260	NM_005199.5(CHRNG):c.1249+9C>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2832042	NM_005199.5(CHRNG):c.1518T>C (p.Pro506=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831485	NM_005199.5(CHRNG):c.1250-2A>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2829699	NM_005199.5(CHRNG):c.1036-10C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2828047	NM_005199.5(CHRNG):c.1413G>A (p.Val471=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826990	NM_005199.5(CHRNG):c.1036-7del	CHRNG, TIGD1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2820258	NM_005199.5(CHRNG):c.1221G>C (p.Gly407=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818175	NM_005199.5(CHRNG):c.1134C>T (p.Ser378=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811171	NM_005199.5(CHRNG):c.1236G>A (p.Ala412=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796243	NM_005199.5(CHRNG):c.1230G>T (p.Ala410=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794076	NM_005199.5(CHRNG):c.1380+8G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2791447	NM_005199.5(CHRNG):c.1314C>T (p.Ile438=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2789696	NM_005199.5(CHRNG):c.1140A>G (p.Gly380=)	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2787593	NM_005199.5(CHRNG):c.1036-9C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2781887	NM_005199.5(CHRNG):c.1036-8C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2780556	NM_005199.5(CHRNG):c.1053G>A (p.Leu351=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776348	NM_005199.5(CHRNG):c.1380+20G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2770528	NM_005199.5(CHRNG):c.1251G>A (p.Glu417=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2769622	NM_005199.5(CHRNG):c.1356G>A (p.Arg452=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2769351	NM_005199.5(CHRNG):c.1292_1311del (p.Leu431fs)	CHRNG, TIGD1 (L431fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2768282	NM_005199.5(CHRNG):c.1299G>A (p.Gln433=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767541	NM_005199.5(CHRNG):c.1249+11C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2763535	NM_005199.5(CHRNG):c.1250-2del	CHRNG, TIGD1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2762483	NM_005199.5(CHRNG):c.1062G>C (p.Leu354=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762183	NM_005199.5(CHRNG):c.1392G>A (p.Glu464=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2761796	NM_005199.5(CHRNG):c.1380+16_1380+21del	CHRNG, TIGD1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2758149	NM_005199.5(CHRNG):c.1381-15G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2736962	NM_005199.5(CHRNG):c.1190_1208dup (p.Trp403Ter)	CHRNG, TIGD1 (W403*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2732149	NM_005199.5(CHRNG):c.1146G>A (p.Ser382=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2730546	NM_005199.5(CHRNG):c.1083G>A (p.Pro361=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2727743	NM_005199.5(CHRNG):c.1446G>A (p.Ser482=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2727690	NM_005199.5(CHRNG):c.1081_1102del (p.Pro361fs)	CHRNG, TIGD1 (P361fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2720003	NM_005199.5(CHRNG):c.1381-7C>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2711975	NM_005199.5(CHRNG):c.1056C>T (p.Pro352=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2700625	NM_005199.5(CHRNG):c.1485C>T (p.Ala495=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617061	NM_005199.5(CHRNG):c.1354C>T (p.Arg452Trp)	CHRNG, TIGD1 (R452W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556445	NM_005199.5(CHRNG):c.1147A>G (p.Ile383Val)	CHRNG, TIGD1 (I383V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490451	NM_005199.5(CHRNG):c.1076T>G (p.Val359Gly)	CHRNG, TIGD1 (V359G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489262	NM_005199.5(CHRNG):c.1141T>C (p.Trp381Arg)	CHRNG, TIGD1 (W381R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474346	NM_005199.5(CHRNG):c.1457G>A (p.Cys486Tyr)	CHRNG, TIGD1 (C486Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458279	NM_005199.5(CHRNG):c.1286G>A (p.Gly429Asp)	CHRNG, TIGD1 (G429D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440071	NM_005199.5(CHRNG):c.1496G>A (p.Arg499Gln)	CHRNG, TIGD1 (R499Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440068	NM_005199.5(CHRNG):c.1202A>G (p.Gln401Arg)	CHRNG, TIGD1 (Q401R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2254284	NM_005199.5(CHRNG):c.1079G>A (p.Arg360His)	CHRNG, TIGD1 (R360H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1301024	NM_005199.5(CHRNG):c.1380+222C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1271623	NM_005199.5(CHRNG):c.1381-210G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1252012	NM_005199.5(CHRNG):c.1180C>G (p.Pro394Ala)	TIGD1, CHRNG (P394A)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 1236773	NM_005199.5(CHRNG):c.1381-300G>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1227512	NM_005199.5(CHRNG):c.1381-155G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1215946	NM_005199.5(CHRNG):c.1381-127C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1182660	NM_005199.5(CHRNG):c.1381-180del	CHRNG, TIGD1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182590	NM_005199.5(CHRNG):c.1381-217A>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1181421	NM_005199.5(CHRNG):c.1036-64G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1055419	NM_005199.5(CHRNG):c.1380+4A>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 899207	NM_005199.5(CHRNG):c.*181T>C	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)	Lethal multiple pterygium syndrome +3 more	GUncertain significance

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