ClinVar for MedGen (Select 934650) - ClinVar

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

Links from MedGen

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627539	NM_021008.4(DEAF1):c.136G>C (p.Glu46Gln)	DEAF1 (E46Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-epilepsy-extrapyramidal syndrome	GUncertain significance
Select item 2584960	NM_021008.4(DEAF1):c.1468C>T (p.Gln490Ter)	DEAF1, LOC126861109 (Q248* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability-epilepsy-extrapyramidal syndrome	GLikely pathogenic
Select item 2009848	NM_021008.4(DEAF1):c.856G>A (p.Asp286Asn)	DEAF1 (D286N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GUncertain significance
Select item 1709471	NM_021008.4(DEAF1):c.677G>A (p.Arg226Gln)	DEAF1 (R226Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability-epilepsy-extrapyramidal syndrome	GUncertain significance
Select item 1676838	NM_021008.4(DEAF1):c.815T>G (p.Leu272Ter)	DEAF1 (L272* +1 more)	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability-epilepsy-extrapyramidal syndrome	GPathogenic
Select item 1467437	NM_021008.4(DEAF1):c.80C>T (p.Ala27Val)	DEAF1 (A27V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-epilepsy-extrapyramidal syndrome +3 more	GUncertain significance
Select item 1401796	NM_021008.4(DEAF1):c.48_92del (p.Val19_Ala33del)	DEAF1	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 1342716	NM_021008.4(DEAF1):c.719T>C (p.Phe240Ser)	DEAF1 (F240S)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GPathogenic
Select item 1342558	NM_021008.4(DEAF1):c.74T>G (p.Val25Gly)	DEAF1 (V25G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1342477	NM_021008.4(DEAF1):c.104G>A (p.Gly35Asp)	DEAF1 (G35D)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GUncertain significance
Select item 1341919	NM_021008.4(DEAF1):c.72_89del (p.19VAAAAA[1])	DEAF1	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 1338421	NM_021008.4(DEAF1):c.56_85del (p.Val19_Ala28del)	DEAF1	Deletion (inframe_deletion +1 more)	Intellectual disability, autosomal dominant 24 +3 more	GUncertain significance
Select item 1320303	NM_021008.4(DEAF1):c.805-1G>C	DEAF1	Single nucleotide variant (splice acceptor variant)	Intellectual disability-epilepsy-extrapyramidal syndrome	GUncertain significance
Select item 1285588	NM_021008.3:c.(1503+1_1504-1)_(1593+1_1594-1)del	DEAF1	Deletion	Intellectual disability-epilepsy-extrapyramidal syndrome	GUncertain significance
Select item 1213702	NM_021008.4(DEAF1):c.1051C>T (p.Arg351Ter)	DEAF1 (R109* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability-epilepsy-extrapyramidal syndrome	GLikely pathogenic
Select item 1185391	NM_021008.4(DEAF1):c.290-38C>T	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185390	NM_021008.4(DEAF1):c.518-34G>A	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185389	NM_021008.4(DEAF1):c.997+97T>C	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185388	NM_021008.4(DEAF1):c.998-99C>T	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185387	NM_021008.4(DEAF1):c.1503+37C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185386	NM_021008.4(DEAF1):c.1503+78C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185385	NM_021008.4(DEAF1):c.1503+82C>A	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185384	NM_021008.4(DEAF1):c.1504-40C>T	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 974839	NM_021008.4(DEAF1):c.997+2_997+3del	DEAF1	Microsatellite (intron variant +1 more)	Intellectual disability-epilepsy-extrapyramidal syndrome	GLikely pathogenic
Select item 930896	NM_021008.4(DEAF1):c.1577C>T (p.Thr526Ile)	DEAF1 (T526I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-epilepsy-extrapyramidal syndrome	GUncertain significance
Select item 915957	NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)	DEAF1 (R224Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 915954	NM_021008.4(DEAF1):c.1617dup (p.Cys540fs)	DEAF1 (C540fs +2 more)	Duplication (frameshift variant)	Intellectual disability-epilepsy-extrapyramidal syndrome	GPathogenic
Select item 915953	NM_021008.4(DEAF1):c.1104_1105dup (p.Asp369fs)	DEAF1 (D280fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 915945	NM_021008.4(DEAF1):c.1187del (p.Gly396fs)	DEAF1 (G396fs +2 more)	Deletion (frameshift variant)	Intellectual disability-epilepsy-extrapyramidal syndrome	GPathogenic
Select item 915944	NM_021008.4(DEAF1):c.571A>T (p.Lys191Ter)	DEAF1 (K191*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability-epilepsy-extrapyramidal syndrome	GPathogenic
Select item 806589	NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu)	DEAF1 (K216E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 585775	NM_021008.4(DEAF1):c.1621G>A (p.Gly541Ser)	DEAF1 (G541S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 585769	NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)	DEAF1 (G396S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 447242	NM_021008.4(DEAF1):c.774C>T (p.Tyr258=)	DEAF1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 434935	NM_021008.4(DEAF1):c.56T>C (p.Val19Ala)	DEAF1 (V19A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 422489	NM_021008.4(DEAF1):c.701G>A (p.Trp234Ter)	DEAF1 (W234*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 422488	NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)	DEAF1 (E239G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375554	NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)	DEAF1 (G212S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 373980	NM_021008.4(DEAF1):c.667G>A (p.Gly223Ser)	DEAF1 (G223S)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 267316	NM_021008.4(DEAF1):c.997+4A>C	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome	GPathogenic/Likely pathogenic
Select item 143989	NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)	DEAF1 (R226W)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability-epilepsy-extrapyramidal syndrome +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 41