TIGD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 144230	GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1	ALPG, ALPI +38 more	Copy number loss	See cases	GPathogenic
Select item 534541	NC_000002.11:g.(?_233390906)_(233410446_?)dup	CHRND, CHRNG +2 more	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 1181421	NM_145702.4(TIGD1):c.*3804C>T	TIGD1, CHRNG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2829699	NM_145702.4(TIGD1):c.*3750G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2787593	NM_145702.4(TIGD1):c.*3749G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2781887	NM_145702.4(TIGD1):c.*3748G>A	CHRNG, TIGD1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 2826990	NM_145702.4(TIGD1):c.*3747del	TIGD1, CHRNG	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 2846911	NM_005199.5(CHRNG):c.1041C>T (p.Phe347=)	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 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 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 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 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 898023	NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile)	CHRNG, TIGD1 (V359I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	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 2727690	NM_005199.5(CHRNG):c.1081_1102del (p.Pro361fs)	CHRNG, TIGD1 (P361fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 289024	NM_005199.5(CHRNG):c.1091C>T (p.Pro364Leu)	CHRNG, TIGD1 (P364L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867042	NM_005199.5(CHRNG):c.1092G>A (p.Pro364=)	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 597036	NM_005199.5(CHRNG):c.1100T>C (p.Val367Ala)	CHRNG, TIGD1 (V367A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 235269	NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)	CHRNG, TIGD1 (S372F)	Single nucleotide variant (missense variant)	CHRNG-related disorder +3 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 2862202	NM_005199.5(CHRNG):c.1123C>T (p.Gln375Ter)	CHRNG, TIGD1 (Q375*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 721396	NM_005199.5(CHRNG):c.1128T>C (p.Asn376=)	TIGD1, CHRNG	Single nucleotide variant (synonymous variant)	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 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 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 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 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 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 899140	NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu)	CHRNG, TIGD1 (S382L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive multiple pterygium syndrome +3 more	GUncertain significance
Select item 2732149	NM_005199.5(CHRNG):c.1146G>A (p.Ser382=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	CHRNG-related disorder +1 more	GLikely benign
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 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 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 1252012	NM_005199.5(CHRNG):c.1180C>G (p.Pro394Ala)	CHRNG, TIGD1 (P394A)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2736962	NM_005199.5(CHRNG):c.1190_1208dup (p.Trp403Ter)	CHRNG, TIGD1 (W403*)	Duplication (nonsense +1 more)	not provided	GPathogenic
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 774977	NM_005199.5(CHRNG):c.1197C>G (p.Leu399=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 487641	NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)	CHRNG, TIGD1 (Q404*)	Single nucleotide variant (nonsense)	Lethal multiple pterygium syndrome	GPathogenic
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 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 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 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 2796243	NM_005199.5(CHRNG):c.1230G>T (p.Ala410=)	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 3015698	NM_145702.4(TIGD1):c.*3519T>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2833260	NM_145702.4(TIGD1):c.*3518G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2767541	NM_145702.4(TIGD1):c.*3516G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2964062	NM_145702.4(TIGD1):c.*3513C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2877098	NM_145702.4(TIGD1):c.*3511A>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2869333	NM_145702.4(TIGD1):c.*3344G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR 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 2763535	NM_005199.5(CHRNG):c.1250-2del	CHRNG, TIGD1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
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 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 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 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 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 (3 prime UTR variant +1 more)	not provided	GPathogenic
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 2769351	NM_005199.5(CHRNG):c.1292_1311del (p.Leu431fs)	CHRNG, TIGD1 (L431fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 714794	NM_005199.5(CHRNG):c.1293G>C (p.Leu431=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant)	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 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 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 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 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 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 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 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 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 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 1055419	NM_145702.4(TIGD1):c.*3201T>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2794076	NM_145702.4(TIGD1):c.*3197C>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2912511	NM_145702.4(TIGD1):c.*3192T>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2761796	NM_145702.4(TIGD1):c.3186_3191del	TIGD1, CHRNG	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2979245	NM_145702.4(TIGD1):c.*3187C>T	CHRNG, TIGD1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2851902	NM_145702.4(TIGD1):c.*3187C>G	CHRNG, TIGD1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2956553	NM_145702.4(TIGD1):c.*3185C>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2776348	NM_145702.4(TIGD1):c.*3185C>T	CHRNG, TIGD1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign

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