ClinVar for MedGen (Select 462289) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271298	NM_024339.5(THOC6):c.772C>T (p.Arg258Trp)	THOC6 (R258W +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1802630	NM_024339.5(THOC6):c.[624_636+2del;746C>T]	THOC6 (S225F +1 more)	Single nucleotide variant (missense variant +1 more)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GLikely pathogenic
Select item 1342292	NM_024339.5(THOC6):c.40-8C>T	THOC6	Single nucleotide variant (intron variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GBenign
Select item 1325194	NM_024339.5(THOC6):c.810+1G>A	THOC6	Single nucleotide variant (splice donor variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GLikely pathogenic
Select item 1325193	NM_024339.5(THOC6):c.44_45del (p.Glu15fs)	THOC6 (E15fs)	Microsatellite (frameshift variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GLikely pathogenic
Select item 1276705	NM_024339.5(THOC6):c.220+10C>G	THOC6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1068138	NM_024339.5(THOC6):c.156-2del	THOC6	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1034041	NM_024339.5(THOC6):c.537G>T (p.Arg179Ser)	THOC6 (R179S +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GUncertain significance
Select item 1034040	NM_024339.5(THOC6):c.496G>A (p.Gly166Ser)	THOC6 (G142S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1034039	NM_024339.5(THOC6):c.484-13C>T	THOC6	Single nucleotide variant (intron variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GUncertain significance
Select item 1034038	NM_024339.5(THOC6):c.482C>T (p.Thr161Met)	THOC6 (T137M +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GUncertain significance
Select item 1034037	NM_024339.5(THOC6):c.436G>A (p.Gly146Arg)	THOC6 (G122R +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GUncertain significance
Select item 1034036	NM_024339.5(THOC6):c.329G>A (p.Cys110Tyr)	THOC6 (C110Y +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GUncertain significance
Select item 983559	NM_024339.5(THOC6):c.[298T>A;700G>C824G>A]	THOC6 (W100R +5 more)	Single nucleotide variant (missense variant +1 more)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GPathogenic
Select item 982265	NM_024339.5(THOC6):c.793_794del (p.Thr265fs)	THOC6 (T241fs +1 more)	Deletion (frameshift variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GPathogenic
Select item 982264	NM_024339.5(THOC6):c.577C>T (p.Arg193Ter)	THOC6 (R193* +1 more)	Single nucleotide variant (nonsense)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GPathogenic
Select item 976677	NM_024339.5(THOC6):c.445C>T (p.Gln149Ter)	THOC6 (Q125* +1 more)	Single nucleotide variant (nonsense)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GPathogenic
Select item 873450	NM_024339.5(THOC6):c.324G>C (p.Lys108Asn)	THOC6 (K108N +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GUncertain significance
Select item 828106	NM_024339.5(THOC6):c.837C>A (p.Cys279Ter)	THOC6 (C255* +1 more)	Single nucleotide variant (nonsense +1 more)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GLikely pathogenic
Select item 633695	NM_024339.5(THOC6):c.139C>T (p.Gln47Ter)	THOC6 (Q47* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 633694	NM_024339.5(THOC6):c.299G>A (p.Trp100Ter)	THOC6 (W100* +1 more)	Single nucleotide variant (nonsense)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GLikely pathogenic
Select item 561208	NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	THOC6 (G190E +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 561207	NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter)	THOC6 (Y45* +1 more)	Single nucleotide variant (nonsense)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GPathogenic/Likely pathogenic
Select item 561206	NM_024339.5(THOC6):c.611A>C (p.Gln204Pro)	THOC6 (Q204P +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GPathogenic
Select item 549017	NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)	FBN1 (C488Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 521349	NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	THOC6 (G275D +1 more)	Single nucleotide variant (missense variant +1 more)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more	GPathogenic/Likely pathogenic
Select item 521348	NM_024339.5(THOC6):c.700G>C (p.Val234Leu)	THOC6 (V234L +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 521347	NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)	THOC6 (W100R +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more	GPathogenic/Likely pathogenic
Select item 520614	NM_024339.5(THOC6):c.259C>T (p.Arg87Ter)	THOC6 (R87* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 520613	NM_024339.5(THOC6):c.748A>C (p.Thr250Pro)	THOC6 (T250P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 64681	NM_024339.5(THOC6):c.136G>A (p.Gly46Arg)	THOC6 (G46R +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GPathogenic

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Items: 31