ClinVar for MedGen (Select 1684661) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068131	NM_001080453.3(INTS1):c.2233G>A (p.Ala745Thr)	INTS1 (A745T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 3065918	NM_001080453.3(INTS1):c.-42+1G>C	INTS1, LOC129997774	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GLikely pathogenic
Select item 3065601	NM_001080453.3(INTS1):c.6320C>T (p.Ala2107Val)	INTS1 (A2107V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 2663789	NM_001080453.3(INTS1):c.3010C>T (p.Arg1004Trp)	INTS1 (R1004W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 1806064	NM_001080453.3(INTS1):c.5776G>A (p.Glu1926Lys)	INTS1 (E1926K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	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 1804947	NM_001080453.3(INTS1):c.2285C>A (p.Thr762Asn)	INTS1 (T762N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 1804946	NM_001080453.3(INTS1):c.4969C>T (p.Arg1657Cys)	INTS1 (R1657C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 1699498	NM_001080453.3(INTS1):c.5572C>T (p.Arg1858Ter)	INTS1 (R1858*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 1699198	NM_001080453.3(INTS1):c.5970C>G (p.Phe1990Leu)	INTS1 (F1990L)	Single nucleotide variant (missense variant)	INTS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1342412	NM_001080453.3(INTS1):c.3424_3429+20del	INTS1	Deletion (splice donor variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GLikely pathogenic
Select item 1328177	NM_001080453.3(INTS1):c.1349T>G (p.Leu450Arg)	INTS1 (L450R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 1328176	NM_001080453.3(INTS1):c.5521C>T (p.Arg1841Cys)	INTS1 (R1841C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 1213719	NM_001080453.3(INTS1):c.3757A>C (p.Ile1253Leu)	INTS1 (I1253L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
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 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 1185488	NM_001080453.3(INTS1):c.350-47T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185487	NM_001080453.3(INTS1):c.546+7G>A	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
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 1185485	NM_001080453.3(INTS1):c.1138-51T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185484	NM_001080453.3(INTS1):c.1602+57A>G	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185483	NM_001080453.3(INTS1):c.1832+18T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185417	NM_001080453.3(INTS1):c.1833-64G>T	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185416	NM_001080453.3(INTS1):c.1910+27T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	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 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 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 1185412	NM_001080453.3(INTS1):c.2165+15C>T	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185411	NM_001080453.3(INTS1):c.2319-94G>A	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185410	NM_001080453.3(INTS1):c.2976+80C>T	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185409	NM_001080453.3(INTS1):c.3430-70A>G	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185408	NM_001080453.3(INTS1):c.3703+7T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185407	NM_001080453.3(INTS1):c.3703+25A>G	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
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 1185405	NM_001080453.3(INTS1):c.4074+61G>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185333	NM_001080453.3(INTS1):c.4489+26C>T	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1064556	NM_001080453.3(INTS1):c.5224G>A (p.Glu1742Lys)	INTS1 (E1742K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 1064555	NM_001080453.3(INTS1):c.2402delinsTT (p.Arg801fs)	INTS1 (R801fs)	Indel (frameshift variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GLikely pathogenic
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 1030091	NM_001080453.3(INTS1):c.2788G>A (p.Glu930Lys)	INTS1 (E930K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 931403	NM_001080453.3(INTS1):c.3133dup (p.Thr1045fs)	INTS1 (T1045fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 816898	NM_001080453.3(INTS1):c.3430-2A>C	INTS1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GLikely pathogenic
Select item 689525	NM_001080453.3(INTS1):c.5881C>T (p.Gln1961Ter)	INTS1 (Q1961*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 689524	NM_001080453.3(INTS1):c.1645A>G (p.Met549Val)	INTS1 (M549V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 689523	NM_001080453.3(INTS1):c.5621C>T (p.Pro1874Leu)	INTS1 (P1874L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 689522	NM_001080453.3(INTS1):c.5398dup (p.Arg1800fs)	INTS1 (R1800fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 689521	NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)	INTS1 (R77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 689520	NM_001080453.3(INTS1):c.5351C>A (p.Ser1784Ter)	INTS1 (S1784*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic

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Items: 48