ClinVar for MedGen (Select 1684661) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 44

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18060641.	NM_001080453.3(INTS1):c.5776G>A (p.Glu1926Lys) GRCh37: Chr7:1513857 GRCh38: Chr7:1474221	INTS1	E1926K, E765K	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (May 26, 2020)	criteria provided, single submitter
Select item 18059602.	NM_001080453.3(INTS1):c.5399G>A (p.Arg1800Gln) GRCh37: Chr7:1515687 GRCh38: Chr7:1476051	INTS1	R1800Q, R639Q	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, Inborn genetic diseases	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18049473.	NM_001080453.3(INTS1):c.2285C>A (p.Thr762Asn) GRCh37: Chr7:1529013 GRCh38: Chr7:1489377	INTS1	T762N	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 18049464.	NM_001080453.3(INTS1):c.4969C>T (p.Arg1657Cys) GRCh37: Chr7:1516524 GRCh38: Chr7:1476888	INTS1	R1657C, R496C	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 16994985.	NM_001080453.3(INTS1):c.5572C>T (p.Arg1858Ter) GRCh37: Chr7:1514405 GRCh38: Chr7:1474769	INTS1	R1858*	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 16991986.	NM_001080453.3(INTS1):c.5970C>G (p.Phe1990Leu) GRCh37: Chr7:1512808 GRCh38: Chr7:1473172	INTS1	F1990L	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 13424127.	NM_001080453.3(INTS1):c.3424_3429+20del GRCh37: Chr7:1523619-1523644 GRCh38: Chr7:1483983-1484008	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, not provided	Likely pathogenic (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13281778.	NM_001080453.3(INTS1):c.1349T>G (p.Leu450Arg) GRCh37: Chr7:1538124 GRCh38: Chr7:1498488	INTS1	L450R	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 13281769.	NM_001080453.3(INTS1):c.5521C>T (p.Arg1841Cys) GRCh37: Chr7:1514456 GRCh38: Chr7:1474820	INTS1	R1841C	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 121371910.	NM_001080453.3(INTS1):c.3757A>C (p.Ile1253Leu) GRCh37: Chr7:1521071 GRCh38: Chr7:1481435	INTS1	I1253L	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (Sep 23, 2020)	criteria provided, single submitter
Select item 118549011.	NM_001080453.3(INTS1):c.72A>G (p.Pro24=) GRCh37: Chr7:1542814 GRCh38: Chr7:1503178	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118548912.	NM_001080453.3(INTS1):c.189C>T (p.Ala63=) GRCh37: Chr7:1542697 GRCh38: Chr7:1503061	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118548813.	NM_001080453.3(INTS1):c.350-47T>C GRCh37: Chr7:1540049 GRCh38: Chr7:1500413	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118548714.	NM_001080453.3(INTS1):c.546+7G>A GRCh37: Chr7:1539799 GRCh38: Chr7:1500163	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118548615.	NM_001080453.3(INTS1):c.950+14T>C GRCh37: Chr7:1538877 GRCh38: Chr7:1499241	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118548516.	NM_001080453.3(INTS1):c.1138-51T>C GRCh37: Chr7:1538539 GRCh38: Chr7:1498903	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118548417.	NM_001080453.3(INTS1):c.1602+57A>G GRCh37: Chr7:1536717 GRCh38: Chr7:1497081	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118548318.	NM_001080453.3(INTS1):c.1832+18T>C GRCh37: Chr7:1535051 GRCh38: Chr7:1495415	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118541719.	NM_001080453.3(INTS1):c.1833-64G>T GRCh37: Chr7:1534593 GRCh38: Chr7:1494957	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118541620.	NM_001080453.3(INTS1):c.1910+27T>C GRCh37: Chr7:1534425 GRCh38: Chr7:1494789	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118541521.	NM_001080453.3(INTS1):c.1911-19T>C GRCh37: Chr7:1533566 GRCh38: Chr7:1493930	INTS1		not provided, Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118541422.	NM_001080453.3(INTS1):c.1911-9A>G GRCh37: Chr7:1533556 GRCh38: Chr7:1493920	INTS1		not provided, Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118541323.	NM_001080453.3(INTS1):c.1945T>C (p.Leu649=) GRCh37: Chr7:1533513 GRCh38: Chr7:1493877	INTS1		not provided, Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118541224.	NM_001080453.3(INTS1):c.2165+15C>T GRCh37: Chr7:1532631 GRCh38: Chr7:1492995	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118541125.	NM_001080453.3(INTS1):c.2319-94G>A GRCh37: Chr7:1527687 GRCh38: Chr7:1488051	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118541026.	NM_001080453.3(INTS1):c.2976+80C>T GRCh37: Chr7:1526181 GRCh38: Chr7:1486545	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118540927.	NM_001080453.3(INTS1):c.3430-70A>G GRCh37: Chr7:1523559 GRCh38: Chr7:1483923	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118540828.	NM_001080453.3(INTS1):c.3703+7T>C GRCh37: Chr7:1522175 GRCh38: Chr7:1482539	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118540729.	NM_001080453.3(INTS1):c.3703+25A>G GRCh37: Chr7:1522157 GRCh38: Chr7:1482521	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118540630.	NM_001080453.3(INTS1):c.4074+7T>A GRCh37: Chr7:1519946 GRCh38: Chr7:1480310	INTS1		not provided, Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118540531.	NM_001080453.3(INTS1):c.4074+61G>C GRCh37: Chr7:1519892 GRCh38: Chr7:1480256	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118533332.	NM_001080453.3(INTS1):c.4489+26C>T GRCh37: Chr7:1518336 GRCh38: Chr7:1478700	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 106455633.	NM_001080453.3(INTS1):c.5224G>A (p.Glu1742Lys) GRCh37: Chr7:1516019 GRCh38: Chr7:1476383	INTS1	E1742K	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 106455534.	NM_001080453.3(INTS1):c.2402delinsTT (p.Arg801fs) GRCh37: Chr7:1527510 GRCh38: Chr7:1487874	INTS1	R801fs	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Likely pathogenic (Apr 1, 2020)	criteria provided, single submitter
Select item 103009235.	NM_001080453.3(INTS1):c.3388C>T (p.Arg1130Cys) GRCh37: Chr7:1523680 GRCh38: Chr7:1484044	INTS1	R1130C	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, Inborn genetic diseases	Uncertain significance (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103009136.	NM_001080453.3(INTS1):c.2788G>A (p.Glu930Lys) GRCh37: Chr7:1526596 GRCh38: Chr7:1486960	INTS1	E930K	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (Nov 6, 2020)	criteria provided, single submitter
Select item 93140337.	NM_001080453.3(INTS1):c.3133dup (p.Thr1045fs) GRCh37: Chr7:1524948-1524949 GRCh38: Chr7:1485312-1485313	INTS1	T1045fs	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Uncertain significance (Apr 17, 2019)	criteria provided, single submitter
Select item 81689838.	NM_001080453.3(INTS1):c.3430-2A>C GRCh37: Chr7:1523491 GRCh38: Chr7:1483855	INTS1		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, Neurodevelopmental delay	Likely pathogenic (Apr 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 68952539.	NM_001080453.3(INTS1):c.5881C>T (p.Gln1961Ter) GRCh37: Chr7:1513278 GRCh38: Chr7:1473642	INTS1	Q1961*	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Pathogenic (Jan 24, 2020)	no assertion criteria provided
Select item 68952440.	NM_001080453.3(INTS1):c.1645A>G (p.Met549Val) GRCh37: Chr7:1535858 GRCh38: Chr7:1496222	INTS1	M549V	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Pathogenic (Jan 24, 2020)	no assertion criteria provided
Select item 68952341.	NM_001080453.3(INTS1):c.5621C>T (p.Pro1874Leu) GRCh37: Chr7:1514356 GRCh38: Chr7:1474720	INTS1	P1874L	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Pathogenic (Sep 11, 2019)	no assertion criteria provided
Select item 68952242.	NM_001080453.3(INTS1):c.5398dup (p.Arg1800fs) GRCh37: Chr7:1515687-1515688 GRCh38: Chr7:1476051-1476052	INTS1	R1800fs	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Pathogenic (Oct 19, 2020)	no assertion criteria provided
Select item 68952143.	NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys) GRCh37: Chr7:1542657 GRCh38: Chr7:1503021	INTS1	R77C	Inborn genetic diseases, Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, not provided	Conflicting interpretations of pathogenicity (May 7, 2021)	criteria provided, conflicting interpretations
Select item 68952044.	NM_001080453.3(INTS1):c.5351C>A (p.Ser1784Ter) GRCh37: Chr7:1515892 GRCh38: Chr7:1476256	INTS1	S1784*	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Pathogenic (Sep 11, 2019)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 44