ClinVar for MedGen (Select 862851) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672186	NM_021008.4(DEAF1):c.1536G>C (p.Met512Ile)	DEAF1 (M270I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 2441955	NM_021008.4(DEAF1):c.970T>A (p.Leu324Met)	DEAF1 (L324M +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24 +1 more	GConflicting classifications of pathogenicity
Select item 2441766	NM_021008.4(DEAF1):c.827C>T (p.Ala276Val)	DEAF1 (A276V +1 more)	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 2431455	NM_021008.4(DEAF1):c.382G>A (p.Val128Ile)	DEAF1 (V128I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 1802553	NM_021008.4(DEAF1):c.620G>A (p.Cys207Tyr)	DEAF1 (C207Y)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24 +1 more	GConflicting classifications of pathogenicity
Select item 1712285	NM_021008.4(DEAF1):c.197T>G (p.Val66Gly)	DEAF1 (V66G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24 +1 more	GUncertain significance
Select item 1710462	NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser)	DEAF1 (G222R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 1695344	NM_021008.4(DEAF1):c.748A>G (p.Lys250Glu)	DEAF1 (K250E +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 1687234	NM_021008.4(DEAF1):c.674G>A (p.Gly225Glu)	DEAF1 (G225E)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 24	GPathogenic
Select item 1685692	NM_021008.4(DEAF1):c.883A>G (p.Arg295Gly)	DEAF1 (R295G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GPathogenic
Select item 1685295	NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe)	DEAF1 (I228F)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 1677014	NM_021008.4(DEAF1):c.926del (p.Leu309fs)	DEAF1 (L309fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal dominant 24 +2 more	GPathogenic/Likely pathogenic
Select item 1525542	NM_021008.4(DEAF1):c.338T>A (p.Val113Asp)	DEAF1 (V113D)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24 +1 more	GUncertain significance
Select item 1467437	NM_021008.4(DEAF1):c.80C>T (p.Ala27Val)	DEAF1 (A27V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24 +2 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 1341753	NM_021008.4(DEAF1):c.516A>C (p.Pro172=)	DEAF1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 1338421	NM_021008.4(DEAF1):c.56_85del (p.Val19_Ala28del)	DEAF1	Deletion (inframe_deletion +1 more)	not specified +3 more	GUncertain significance
Select item 1334021	NM_021008.4(DEAF1):c.461A>G (p.Asp154Gly)	DEAF1 (D154G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 1297022	NM_021008.4(DEAF1):c.613G>C (p.Val205Leu)	DEAF1 (V205L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 1185391	NM_021008.4(DEAF1):c.290-38C>T	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GBenign
Select item 1185390	NM_021008.4(DEAF1):c.518-34G>A	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GBenign
Select item 1185389	NM_021008.4(DEAF1):c.997+97T>C	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GBenign
Select item 1185388	NM_021008.4(DEAF1):c.998-99C>T	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GBenign
Select item 1185387	NM_021008.4(DEAF1):c.1503+37C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GBenign
Select item 1185386	NM_021008.4(DEAF1):c.1503+78C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GBenign
Select item 1185385	NM_021008.4(DEAF1):c.1503+82C>A	LOC126861109, DEAF1	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GBenign
Select item 1185384	NM_021008.4(DEAF1):c.1504-40C>T	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GBenign
Select item 1028212	NM_021008.4(DEAF1):c.151G>A (p.Asp51Asn)	DEAF1 (D51N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 992295	NM_021008.4(DEAF1):c.332A>C (p.Asp111Ala)	DEAF1 (D111A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 983078	NM_021008.4(DEAF1):c.1173del (p.Glu391fs)	DEAF1 (E149fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 976339	NM_021008.4(DEAF1):c.842G>C (p.Cys281Ser)	DEAF1 (C281S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 976209	NM_021008.4(DEAF1):c.979G>A (p.Ala327Thr)	DEAF1 (A327T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 975850	NM_021008.4(DEAF1):c.821C>T (p.Pro274Leu)	DEAF1 (P274L +1 more)	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 915952	NM_021008.4(DEAF1):c.815_817delinsG (p.Leu272_Asn273delinsTer)	DEAF1 (K226fs)	Indel (frameshift variant +1 more)	Intellectual disability, autosomal dominant 24	GPathogenic
Select item 915951	NM_021008.4(DEAF1):c.664+1G>T	DEAF1	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 24	GPathogenic
Select item 915950	NM_021008.4(DEAF1):c.826G>C (p.Ala276Pro)	DEAF1 (A276P +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 24	GPathogenic
Select item 915949	NM_021008.4(DEAF1):c.640C>G (p.Leu214Val)	DEAF1 (L214V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GPathogenic
Select item 802647	NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs)	DEAF1 (L13fs)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal dominant 24 +1 more	GPathogenic/Likely pathogenic
Select item 802646	NM_021008.4(DEAF1):c.84_98del (p.Ala29_Ala33del)	DEAF1	Deletion (inframe_deletion +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 802645	NM_021008.4(DEAF1):c.880G>C (p.Val294Leu)	DEAF1 (V52L +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 592120	NM_021008.4(DEAF1):c.776C>T (p.Ala259Val)	DEAF1 (A259V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 585775	NM_021008.4(DEAF1):c.1621G>A (p.Gly541Ser)	DEAF1 (G541S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 24 +2 more	GUncertain significance
Select item 447242	NM_021008.4(DEAF1):c.774C>T (p.Tyr258=)	DEAF1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 437398	NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)	DEAF1 (W234R)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 437397	NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)	DEAF1 (K305del +1 more)	Microsatellite (inframe_deletion +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 437396	NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)	DEAF1 (R246T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GPathogenic/Likely pathogenic
Select item 431373	NM_021008.4(DEAF1):c.1123A>G (p.Thr375Ala)	DEAF1 (T375A +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 422488	NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)	DEAF1 (E239G)	Single nucleotide variant (intron variant +2 more)	Intellectual disability, autosomal dominant 24 +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)	Intellectual disability, autosomal dominant 24 +2 more	GPathogenic/Likely pathogenic
Select item 267316	NM_021008.4(DEAF1):c.997+4A>C	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +1 more	GPathogenic
Select item 133294	NM_021008.4(DEAF1):c.762A>C (p.Arg254Ser)	DEAF1 (R254S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 133293	NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp)	DEAF1 (R224W)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 24 +1 more	GPathogenic/Likely pathogenic
Select item 133292	NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro)	DEAF1 (Q264P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 133291	NM_021008.4(DEAF1):c.683T>G (p.Ile228Ser)	DEAF1 (I228S)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 24	GPathogenic

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Items: 56