"GeneDx"[submitter] AND "INTS1"[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 2430428	NM_001080453.3(INTS1):c.6568A>C (p.Met2190Leu)	INTS1 (M1029L +1 more)	Single nucleotide variant (missense variant)	not provided	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 1691135	NM_001080453.3(INTS1):c.6499A>G (p.Met2167Val)	INTS1 (M2167V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439960	NM_001080453.3(INTS1):c.6464C>T (p.Ala2155Val)	INTS1 (A2155V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305883	NM_001080453.3(INTS1):c.6454C>G (p.Gln2152Glu)	INTS1 (Q2152E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371697	NM_001080453.3(INTS1):c.6325C>T (p.Arg2109Cys)	INTS1 (R2109C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661968	NM_001080453.3(INTS1):c.6256-6G>A	INTS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1800697	NM_001080453.3(INTS1):c.6139A>G (p.Met2047Val)	INTS1 (M2047V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1695718	NM_001080453.3(INTS1):c.6101T>G (p.Val2034Gly)	INTS1 (V2034G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310858	NM_001080453.3(INTS1):c.5959G>A (p.Asp1987Asn)	INTS1 (D1987N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430426	NM_001080453.3(INTS1):c.5848C>T (p.Arg1950Cys)	INTS1 (R1950C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413062	NM_001080453.3(INTS1):c.5652C>G (p.Ile1884Met)	INTS1, LOC129997773 (I1884M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302721	NM_001080453.3(INTS1):c.5380G>C (p.Val1794Leu)	INTS1 (V1794L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252651	NM_001080453.3(INTS1):c.5234C>T (p.Thr1745Met)	INTS1 (T1745M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712576	NM_001080453.3(INTS1):c.5195T>A (p.Leu1732His)	INTS1 (L1732H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800490	NM_001080453.3(INTS1):c.4994C>G (p.Thr1665Arg)	INTS1 (T1665R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501924	NM_001080453.3(INTS1):c.4979T>C (p.Leu1660Pro)	INTS1 (L1660P +1 more)	Single nucleotide variant (missense variant)	not provided	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 3371923	NM_001080453.3(INTS1):c.4930C>T (p.Arg1644Trp)	INTS1 (R1644W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810600	NM_001080453.3(INTS1):c.4808G>A (p.Gly1603Asp)	INTS1 (G1603D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2502508	NM_001080453.3(INTS1):c.4617C>G (p.Asp1539Glu)	INTS1 (D1539E +1 more)	Single nucleotide variant (missense variant)	not provided	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 2502506	NM_001080453.3(INTS1):c.4404C>G (p.Asp1468Glu)	INTS1 (D1468E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611873	NM_001080453.3(INTS1):c.4361C>T (p.Ser1454Leu)	INTS1 (S1454L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 641028	NM_001080453.3(INTS1):c.4343A>G (p.Gln1448Arg)	INTS1 (Q1448R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801175	NM_001080453.3(INTS1):c.4279C>T (p.Arg1427Cys)	INTS1 (R1427C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336214	NM_001080453.3(INTS1):c.4159G>C (p.Glu1387Gln)	INTS1 (E1387Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371698	NM_001080453.3(INTS1):c.4091C>T (p.Pro1364Leu)	INTS1 (P1364L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185406	NM_001080453.3(INTS1):c.4074+7T>A	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1309256	NM_001080453.3(INTS1):c.4064T>C (p.Met1355Thr)	INTS1 (M1355T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2502121	NM_001080453.3(INTS1):c.4058C>T (p.Ala1353Val)	INTS1 (A1353V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3340240	NM_001080453.3(INTS1):c.3908C>G (p.Thr1303Ser)	INTS1 (T1303S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506784	NM_001080453.3(INTS1):c.3887G>A (p.Arg1296His)	INTS1 (R1296H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365505	NM_001080453.3(INTS1):c.3699C>G (p.Asp1233Glu)	INTS1 (D1233E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992755	NM_001080453.3(INTS1):c.3679G>C (p.Glu1227Gln)	INTS1 (E1227Q)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GConflicting classifications of pathogenicity
Select item 1810010	NM_001080453.3(INTS1):c.3563C>T (p.Ala1188Val)	INTS1 (A1188V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683992	NM_001080453.3(INTS1):c.3550A>G (p.Ser1184Gly)	INTS1 (S1184G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321006	NM_001080453.3(INTS1):c.3429+24_3429+49del	INTS1	Deletion (splice donor variant)	not provided	GLikely benign
Select item 3343888	NM_001080453.3(INTS1):c.3370T>A (p.Phe1124Ile)	INTS1 (F1124I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412903	NM_001080453.3(INTS1):c.3338C>T (p.Ser1113Leu)	INTS1 (S1113L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214146	NM_001080453.3(INTS1):c.3286C>T (p.Arg1096Cys)	INTS1 (R1096C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1687712	NM_001080453.3(INTS1):c.3011G>C (p.Arg1004Pro)	INTS1 (R1004P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1305344	NM_001080453.3(INTS1):c.2977-5C>T	INTS1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 3371058	NM_001080453.3(INTS1):c.2891A>G (p.Asp964Gly)	INTS1 (D964G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429601	NM_001080453.3(INTS1):c.2527C>T (p.Arg843Trp)	INTS1 (R843W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309071	NM_001080453.3(INTS1):c.2521C>G (p.Pro841Ala)	INTS1 (P841A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305345	NM_001080453.3(INTS1):c.2236G>A (p.Ala746Thr)	INTS1 (A746T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501972	NM_001080453.3(INTS1):c.2165+9_2165+42del	INTS1	Deletion (splice donor variant)	not provided	GLikely benign
Select item 2507197	NM_001080453.3(INTS1):c.2162C>T (p.Pro721Leu)	INTS1 (P721L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695499	NM_001080453.3(INTS1):c.2106C>G (p.Ile702Met)	INTS1 (I702M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185413	NM_001080453.3(INTS1):c.1945T>C (p.Leu649=)	INTS1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185414	NM_001080453.3(INTS1):c.1911-9A>G	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185415	NM_001080453.3(INTS1):c.1911-19T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1806577	NM_001080453.3(INTS1):c.1907G>A (p.Arg636His)	INTS1 (R636H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429627	NM_001080453.3(INTS1):c.1726C>T (p.Arg576Cys)	INTS1 (R576C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505635	NM_001080453.3(INTS1):c.1654G>A (p.Gly552Ser)	INTS1 (G552S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313852	NM_001080453.3(INTS1):c.1443C>A (p.Phe481Leu)	INTS1 (F481L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500398	NM_001080453.3(INTS1):c.1438G>A (p.Val480Met)	INTS1 (V480M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2231426	NM_001080453.3(INTS1):c.1283+5G>A	INTS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1232182	NM_001080453.3(INTS1):c.1134C>T (p.Pro378=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2506677	NM_001080453.3(INTS1):c.1100C>T (p.Ala367Val)	INTS1 (A367V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185486	NM_001080453.3(INTS1):c.950+14T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1310857	NM_001080453.3(INTS1):c.935G>A (p.Gly312Asp)	INTS1 (G312D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371924	NM_001080453.3(INTS1):c.556A>T (p.Ser186Cys)	INTS1 (S186C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507198	NM_001080453.3(INTS1):c.436G>A (p.Val146Met)	INTS1 (V146M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810469	NM_001080453.3(INTS1):c.230G>A (p.Arg77His)	INTS1 (R77H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 689521	NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)	INTS1 (R77C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +2 more	GConflicting classifications of pathogenicity
Select item 1185489	NM_001080453.3(INTS1):c.189C>T (p.Ala63=)	INTS1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185490	NM_001080453.3(INTS1):c.72A>G (p.Pro24=)	INTS1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 3343575	NM_001080453.3(INTS1):c.10G>A (p.Ala4Thr)	INTS1 (A4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253802	GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4	CYP2W1, PSMG3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3359629	NM_001080453.3(INTS1):c.2207A>G (p.Lys736Arg)	INTS1 (K736R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359628	NM_001080453.3(INTS1):c.2971A>G (p.Met991Val)	INTS1 (M991V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 77