"Ambry Genetics"[submitter] AND "INTS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2277337	NM_001080453.3(INTS1):c.6554_6564delinsCGTGATGTGAGCCT (p.His2185_Ala2188delinsProTer)	INTS1	Indel (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272313	NM_001080453.3(INTS1):c.6562G>C (p.Ala2188Pro)	INTS1 (A1027P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400429	NM_001080453.3(INTS1):c.6556A>G (p.Met2186Val)	INTS1 (M1025V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695545	NM_001080453.3(INTS1):c.6523G>A (p.Ala2175Thr)	INTS1 (A2175T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2396959	NM_001080453.3(INTS1):c.6505G>A (p.Gly2169Ser)	INTS1 (G1008S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323983	NM_001080453.3(INTS1):c.6463G>A (p.Ala2155Thr)	INTS1 (A2155T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293793	NM_001080453.3(INTS1):c.6445C>G (p.Leu2149Val)	INTS1 (L2149V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236621	NM_001080453.3(INTS1):c.6429C>A (p.Asn2143Lys)	INTS1 (N982K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370360	NM_001080453.3(INTS1):c.6307G>A (p.Ala2103Thr)	INTS1 (A2103T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522761	NM_001080453.3(INTS1):c.6214G>A (p.Glu2072Lys)	INTS1 (E2072K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289065	NM_001080453.3(INTS1):c.6191T>C (p.Leu2064Pro)	INTS1 (L2064P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210009	NM_001080453.3(INTS1):c.6136G>A (p.Glu2046Lys)	INTS1 (E2046K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275276	NM_001080453.3(INTS1):c.6119C>G (p.Thr2040Ser)	INTS1 (T2040S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391102	NM_001080453.3(INTS1):c.6106G>A (p.Val2036Ile)	INTS1 (V875I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338941	NM_001080453.3(INTS1):c.6073G>A (p.Glu2025Lys)	INTS1 (E2025K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225779	NM_001080453.3(INTS1):c.6043G>C (p.Asp2015His)	INTS1 (D2015H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531721	NM_001080453.3(INTS1):c.5914C>G (p.Pro1972Ala)	INTS1 (P1972A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2616819	NM_001080453.3(INTS1):c.5899A>C (p.Ile1967Leu)	INTS1 (I1967L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204878	NM_001080453.3(INTS1):c.5885T>G (p.Phe1962Cys)	INTS1 (F1962C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407324	NM_001080453.3(INTS1):c.5814C>G (p.Phe1938Leu)	INTS1 (F1938L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569674	NM_001080453.3(INTS1):c.5759C>T (p.Pro1920Leu)	INTS1 (P759L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522707	NM_001080453.3(INTS1):c.5648T>C (p.Met1883Thr)	INTS1, LOC129997773 (M1883T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209335	NM_001080453.3(INTS1):c.5647A>G (p.Met1883Val)	INTS1, LOC129997773 (M1883V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329592	NM_001080453.3(INTS1):c.5522G>A (p.Arg1841His)	INTS1 (R680H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621582	NM_001080453.3(INTS1):c.5462T>G (p.Leu1821Arg)	INTS1 (L660R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378581	NM_001080453.3(INTS1):c.5449G>A (p.Val1817Met)	INTS1 (V656M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304025	NM_001080453.3(INTS1):c.5443G>T (p.Val1815Leu)	INTS1 (V1815L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592485	NM_001080453.3(INTS1):c.5432C>T (p.Pro1811Leu)	INTS1 (P1811L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589859	NM_001080453.3(INTS1):c.5403C>G (p.Asp1801Glu)	INTS1 (D640E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805960	NM_001080453.3(INTS1):c.5399G>A (p.Arg1800Gln)	INTS1 (R1800Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GUncertain significance
Select item 2481382	NM_001080453.3(INTS1):c.5282G>A (p.Arg1761Gln)	INTS1 (R1761Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530263	NM_001080453.3(INTS1):c.5266A>G (p.Ser1756Gly)	INTS1 (S595G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479433	NM_001080453.3(INTS1):c.5247C>G (p.Asp1749Glu)	INTS1 (D1749E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549817	NM_001080453.3(INTS1):c.5246A>G (p.Asp1749Gly)	INTS1 (D1749G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214930	NM_001080453.3(INTS1):c.5236C>T (p.Arg1746Trp)	INTS1 (R585W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322627	NM_001080453.3(INTS1):c.5186G>A (p.Gly1729Asp)	INTS1 (G568D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223088	NM_001080453.3(INTS1):c.5081C>G (p.Ser1694Cys)	INTS1 (S533C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227263	NM_001080453.3(INTS1):c.5025G>C (p.Gln1675His)	INTS1 (Q514H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591139	NM_001080453.3(INTS1):c.5014A>G (p.Thr1672Ala)	INTS1 (T1672A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206042	NM_001080453.3(INTS1):c.5002T>G (p.Ser1668Ala)	INTS1 (S507A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228108	NM_001080453.3(INTS1):c.4996C>T (p.His1666Tyr)	INTS1 (H1666Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305884	NM_001080453.3(INTS1):c.4970G>A (p.Arg1657His)	INTS1 (R1657H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 985046	NM_001080453.3(INTS1):c.4901C>G (p.Pro1634Arg)	INTS1 (P1634R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810600	NM_001080453.3(INTS1):c.4808G>A (p.Gly1603Asp)	INTS1 (G1603D +1 more)	Single nucleotide variant (missense variant)	INTS1-related condition +2 more	GUncertain significance
Select item 2612748	NM_001080453.3(INTS1):c.4786G>T (p.Gly1596Trp)	INTS1 (G1596W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207542	NM_001080453.3(INTS1):c.4718C>T (p.Pro1573Leu)	INTS1 (P1573L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535374	NM_001080453.3(INTS1):c.4606G>A (p.Val1536Met)	INTS1 (V375M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391747	NM_001080453.3(INTS1):c.4601G>A (p.Cys1534Tyr)	INTS1 (C1534Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313853	NM_001080453.3(INTS1):c.4514C>T (p.Ala1505Val)	INTS1 (A1505V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2362105	NM_001080453.3(INTS1):c.4507C>T (p.Arg1503Cys)	INTS1 (R1503C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366012	NM_001080453.3(INTS1):c.4499G>C (p.Gly1500Ala)	INTS1 (G339A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302941	NM_001080453.3(INTS1):c.4445G>A (p.Arg1482Lys)	INTS1 (R1482K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2284821	NM_001080453.3(INTS1):c.4432C>G (p.Arg1478Gly)	INTS1 (R317G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329059	NM_001080453.3(INTS1):c.4406G>A (p.Ser1469Asn)	INTS1 (S1469N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526361	NM_001080453.3(INTS1):c.4405A>T (p.Ser1469Cys)	INTS1 (S1469C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526360	NM_001080453.3(INTS1):c.4404C>A (p.Asp1468Glu)	INTS1 (D307E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611873	NM_001080453.3(INTS1):c.4361C>T (p.Ser1454Leu)	INTS1 (S1454L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617995	NM_001080453.3(INTS1):c.4322A>G (p.Gln1441Arg)	INTS1 (Q1441R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480296	NM_001080453.3(INTS1):c.4301C>T (p.Pro1434Leu)	INTS1 (P273L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301658	NM_001080453.3(INTS1):c.4298G>C (p.Cys1433Ser)	INTS1 (C272S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242599	NM_001080453.3(INTS1):c.4186C>A (p.Pro1396Thr)	INTS1 (P235T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229542	NM_001080453.3(INTS1):c.4184G>C (p.Ser1395Thr)	INTS1 (S1395T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315763	NM_001080453.3(INTS1):c.4168C>T (p.Arg1390Cys)	INTS1 (R1390C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336214	NM_001080453.3(INTS1):c.4159G>C (p.Glu1387Gln)	INTS1 (E1387Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985045	NM_001080453.3(INTS1):c.4157A>G (p.Gln1386Arg)	INTS1 (Q1386R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214963	NM_001080453.3(INTS1):c.4145A>T (p.Gln1382Leu)	INTS1 (Q1382L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623461	NM_001080453.3(INTS1):c.4142A>G (p.Gln1381Arg)	INTS1 (Q1381R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518783	NM_001080453.3(INTS1):c.4135G>A (p.Ala1379Thr)	INTS1 (A1379T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403299	NM_001080453.3(INTS1):c.4088G>C (p.Ser1363Thr)	INTS1 (S202T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529348	NM_001080453.3(INTS1):c.4051G>A (p.Asp1351Asn)	INTS1 (D1351N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270577	NM_001080453.3(INTS1):c.4033G>A (p.Val1345Met)	INTS1 (V1345M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470081	NM_001080453.3(INTS1):c.4006C>T (p.Arg1336Trp)	INTS1 (R175W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747388	NM_001080453.3(INTS1):c.3964C>T (p.Pro1322Ser)	INTS1 (P1322S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 747389	NM_001080453.3(INTS1):c.3962C>G (p.Ala1321Gly)	INTS1 (A1321G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1309257	NM_001080453.3(INTS1):c.3943C>T (p.Arg1315Cys)	INTS1 (R1315C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2241828	NM_001080453.3(INTS1):c.3911T>C (p.Phe1304Ser)	INTS1 (F143S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310174	NM_001080453.3(INTS1):c.3886C>T (p.Arg1296Cys)	INTS1 (R1296C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985163	NM_001080453.3(INTS1):c.3886C>A (p.Arg1296Ser)	INTS1 (R1296S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468396	NM_001080453.3(INTS1):c.3822G>C (p.Gln1274His)	INTS1 (Q1274H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308907	NM_001080453.3(INTS1):c.3814G>A (p.Asp1272Asn)	INTS1 (D1272N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375659	NM_001080453.3(INTS1):c.3689G>A (p.Arg1230His)	INTS1 (R1230H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992755	NM_001080453.3(INTS1):c.3679G>C (p.Glu1227Gln)	INTS1 (E1227Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2247798	NM_001080453.3(INTS1):c.3558C>G (p.Phe1186Leu)	INTS1 (F1186L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255211	NM_001080453.3(INTS1):c.3544G>A (p.Asp1182Asn)	INTS1 (D21N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461432	NM_001080453.3(INTS1):c.3512T>C (p.Val1171Ala)	INTS1 (V1171A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319254	NM_001080453.3(INTS1):c.3394C>T (p.Arg1132Trp)	INTS1 (R1132W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030092	NM_001080453.3(INTS1):c.3388C>T (p.Arg1130Cys)	INTS1 (R1130C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GUncertain significance
Select item 2362658	NM_001080453.3(INTS1):c.3361T>G (p.Leu1121Val)	INTS1 (L1121V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229683	NM_001080453.3(INTS1):c.3302C>G (p.Ser1101Cys)	INTS1 (S1101C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527018	NM_001080453.3(INTS1):c.3265G>A (p.Val1089Met)	INTS1 (V1089M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695541	NM_001080453.3(INTS1):c.3224C>T (p.Pro1075Leu)	INTS1 (P1075L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2600021	NM_001080453.3(INTS1):c.3221C>T (p.Thr1074Met)	INTS1 (T1074M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400702	NM_001080453.3(INTS1):c.3103C>T (p.Arg1035Cys)	INTS1 (R1035C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454209	NM_001080453.3(INTS1):c.3073G>A (p.Gly1025Ser)	INTS1 (G1025S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325167	NM_001080453.3(INTS1):c.3049G>A (p.Val1017Met)	INTS1 (V1017M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250502	NM_001080453.3(INTS1):c.3013G>T (p.Asp1005Tyr)	INTS1 (D1005Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350775	NM_001080453.3(INTS1):c.2996C>T (p.Ser999Leu)	INTS1 (S999L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220505	NM_001080453.3(INTS1):c.2995T>C (p.Ser999Pro)	INTS1 (S999P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305344	NM_001080453.3(INTS1):c.2977-5C>T	INTS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2310264	NM_001080453.3(INTS1):c.2932C>T (p.Arg978Cys)	INTS1 (R978C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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