ClinVar for MedGen (Select 1758434) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236444	NM_014712.3(SETD1A):c.1369C>G (p.Arg457Gly)	SETD1A (R457G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 3064905	NM_014712.3(SETD1A):c.1732T>A (p.Ser578Thr)	SETD1A (S578T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 3064673	NM_014712.3(SETD1A):c.4199GCC[5] (p.Arg1402_Pro1403insArgArg)	SETD1A	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 3064278	NM_014712.3(SETD1A):c.3752T>C (p.Val1251Ala)	SETD1A (V1251A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 3062117	NM_014712.3(SETD1A):c.2273_2274insGAGC (p.Leu759fs)	SETD1A (L759fs)	Insertion (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 3062113	NM_014712.3(SETD1A):c.2121dup (p.Gly708fs)	SETD1A (G708fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 2690905	NM_014712.3(SETD1A):c.3005_3006del (p.Glu1002fs)	SETD1A (E1002fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 2671656	NM_014712.3(SETD1A):c.395G>A (p.Arg132His)	SETD1A (R132H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 2664066	NM_014712.3(SETD1A):c.2665C>T (p.Arg889Trp)	SETD1A (R889W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 2572416	NM_014712.3(SETD1A):c.4530C>A (p.Tyr1510Ter)	SETD1A (Y1510*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 2445730	NM_014712.3(SETD1A):c.151-2A>G	SETD1A	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 2441959	NM_014712.3(SETD1A):c.3251T>C (p.Val1084Ala)	SETD1A (V1084A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 2441734	NM_014712.3(SETD1A):c.4511A>G (p.Lys1504Arg)	SETD1A (K1504R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 2431368	NM_014712.3(SETD1A):c.1720-1G>A	SETD1A	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 1878499	NM_014712.3(SETD1A):c.526C>T (p.Arg176Ter)	SETD1A (R176*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 1804046	NM_014712.3(SETD1A):c.4618C>T (p.Gln1540Ter)	SETD1A (Q1540*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 1801501	NM_014712.3(SETD1A):c.1174C>A (p.Pro392Thr)	SETD1A (P392T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 1712332	NM_014712.3(SETD1A):c.2569G>T (p.Glu857Ter)	SETD1A (E857*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 1708513	NM_014712.3(SETD1A):c.4010A>C (p.Glu1337Ala)	SETD1A (E1337A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 1708243	NM_014712.3(SETD1A):c.7C>T (p.Gln3Ter)	SETD1A (Q3*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 1701627	NM_014712.3(SETD1A):c.4298C>T (p.Ser1433Leu)	SETD1A (S1433L)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, with or without developmental delay +1 more	GUncertain significance
Select item 1678536	NM_014712.3(SETD1A):c.2512C>T (p.Gln838Ter)	SETD1A (Q838*)	Single nucleotide variant (nonsense)	Epilepsy, early-onset, with or without developmental delay +1 more	GLikely pathogenic
Select item 1342473	NM_014712.3(SETD1A):c.667G>C (p.Asp223His)	SETD1A (D223H)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, with or without developmental delay +1 more	GUncertain significance
Select item 1341893	NM_014712.3(SETD1A):c.4950+3G>A	SETD1A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 1339133	NM_014712.3(SETD1A):c.1787C>G (p.Pro596Arg)	SETD1A (P596R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1334443	NM_014712.3(SETD1A):c.2761G>A (p.Asp921Asn)	SETD1A (D921N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 1332945	NM_014712.3(SETD1A):c.2929-21T>C	SETD1A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies +1 more	GBenign
Select item 1285441	NM_014712.3(SETD1A):c.1143del (p.Tyr382fs)	SETD1A (Y382fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 981935	NM_014712.3(SETD1A):c.1014dup (p.Ala339fs)	SETD1A (A339fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 981934	NM_014712.3(SETD1A):c.1602_1603del (p.Gly535fs)	SETD1A (G535fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 981933	NM_014712.3(SETD1A):c.4495T>G (p.Tyr1499Asp)	SETD1A (Y1499D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 782787	NM_014712.3(SETD1A):c.726C>T (p.Pro242=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 417721	NM_014712.3(SETD1A):c.4582-2_4582-1del	SETD1A	Deletion (splice acceptor variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic

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Items: 33