ClinVar for Gene (Select 79228) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3388997	NM_024339.5(THOC6):c.777G>T (p.Ala259=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3376246	NM_024339.5(THOC6):c.493C>T (p.Arg165Trp)	THOC6 (R141W +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	GUncertain significance
Select item 3368495	NM_024339.5(THOC6):c.156-13G>A	THOC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3341598	NM_024339.5(THOC6):c.309G>A (p.Ala103=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3325943	NM_024339.5(THOC6):c.707G>C (p.Gly236Ala)	THOC6 (G236A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325942	NM_024339.5(THOC6):c.427C>G (p.Leu143Val)	THOC6 (L143V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325941	NM_024339.5(THOC6):c.907C>A (p.Leu303Ile)	THOC6 (L303I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3325940	NM_024339.5(THOC6):c.62A>G (p.Gln21Arg)	THOC6 (Q21R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3325938	NM_024339.5(THOC6):c.857G>C (p.Ser286Thr)	THOC6 (S262T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3325937	NM_024339.5(THOC6):c.691G>T (p.Asp231Tyr)	THOC6 (D207Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257308	NM_024339.5(THOC6):c.27G>T (p.Val9=)	THOC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3177105	NM_024339.5(THOC6):c.869A>G (p.Lys290Arg)	THOC6 (K266R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3177104	NM_024339.5(THOC6):c.859G>A (p.Gly287Arg)	THOC6 (G287R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3177103	NM_024339.5(THOC6):c.799T>C (p.Tyr267His)	THOC6 (Y243H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177101	NM_024339.5(THOC6):c.614C>T (p.Thr205Met)	THOC6 (T205M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177100	NM_024339.5(THOC6):c.514C>T (p.His172Tyr)	THOC6 (H172Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177099	NM_024339.5(THOC6):c.494G>A (p.Arg165Gln)	THOC6 (R165Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177098	NM_024339.5(THOC6):c.29C>A (p.Pro10His)	THOC6 (P10H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3177097	NM_024339.5(THOC6):c.206T>C (p.Val69Ala)	THOC6 (V69A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177096	NM_024339.5(THOC6):c.189G>C (p.Glu63Asp)	THOC6 (E39D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177095	NM_024339.5(THOC6):c.16C>T (p.Pro6Ser)	THOC6 (P6S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050346	NM_024339.5(THOC6):c.930C>G (p.Ala310=)	THOC6	Single nucleotide variant (synonymous variant +1 more)	THOC6-related disorder	GLikely benign
Select item 3035559	NM_024339.5(THOC6):c.865C>T (p.Leu289=)	THOC6	Single nucleotide variant (synonymous variant +1 more)	THOC6-related disorder	GLikely benign
Select item 3035328	NM_024339.5(THOC6):c.237C>T (p.Val79=)	THOC6	Single nucleotide variant (synonymous variant)	THOC6-related disorder	GLikely benign
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	MTRNR2L4, NAA60 +52 more	Copy number loss	not provided	GPathogenic
Select item 3024594	GRCh37/hg19 16p13.3(chr16:2979687-3220680)x3	KREMEN2, MMP25 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2646098	NM_024339.5(THOC6):c.813T>C (p.Ile271=)	THOC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646097	NM_024339.5(THOC6):c.255C>T (p.Thr85=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630517	NM_024339.5(THOC6):c.155+1G>T	THOC6	Single nucleotide variant (splice donor variant)	THOC6-related disorder	GLikely pathogenic
Select item 2629835	NM_024339.5(THOC6):c.510C>A (p.Tyr170Ter)	THOC6 (Y146* +1 more)	Single nucleotide variant (nonsense)	THOC6-related disorder	GLikely pathogenic
Select item 2590595	NM_024339.5(THOC6):c.344G>A (p.Arg115His)	THOC6 (R91H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2560579	NM_024339.5(THOC6):c.34G>A (p.Gly12Ser)	THOC6 (G12S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466885	NM_024339.5(THOC6):c.746C>A (p.Ser249Tyr)	THOC6 (S249Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2401320	NM_024339.5(THOC6):c.11C>T (p.Ala4Val)	THOC6 (A4V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392262	NM_024339.5(THOC6):c.46G>A (p.Val16Met)	THOC6 (V16M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391664	NM_024339.5(THOC6):c.517T>C (p.Cys173Arg)	THOC6 (C149R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314937	NM_024339.5(THOC6):c.829G>C (p.Gly277Arg)	THOC6 (G277R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313594	NM_024339.5(THOC6):c.235G>A (p.Val79Ile)	THOC6 (V79I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298986	NM_024339.5(THOC6):c.968G>C (p.Ser323Thr)	THOC6 (S278T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2239868	NM_024339.5(THOC6):c.379C>T (p.Pro127Ser)	THOC6 (P103S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228189	NM_024339.5(THOC6):c.363-6C>T	THOC6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2223771	NM_024339.5(THOC6):c.626A>T (p.Tyr209Phe)	THOC6 (Y209F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208480	NM_024339.5(THOC6):c.656A>G (p.Asn219Ser)	THOC6 (N219S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802662	NM_024339.5(THOC6):c.624_636+2del	THOC6	Deletion (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1802661	NM_024339.5(THOC6):c.746C>T (p.Ser249Phe)	THOC6 (S225F +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1684068	NM_024339.5(THOC6):c.343del (p.Arg115fs)	THOC6 (R115fs +1 more)	Deletion (frameshift variant)	not provided +1 more	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 +1 more	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)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +1 more	GBenign
Select item 1239904	NM_024339.5(THOC6):c.390C>T (p.Asn130=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
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 988438	NM_024339.5(THOC6):c.893del (p.Pro298fs)	THOC6 (P274fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 985892	NM_024339.5(THOC6):c.838del (p.Val280fs)	THOC6 (V256fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	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 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	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 870678	NM_024339.5(THOC6):c.739C>T (p.Arg247Ter)	THOC6 (R247* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 870677	NM_024339.5(THOC6):c.553T>C (p.Ser185Pro)	THOC6 (S185P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 756323	NM_024339.5(THOC6):c.587-5C>T	THOC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746801	NM_024339.5(THOC6):c.949C>T (p.Leu317=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740355	NM_024339.5(THOC6):c.655A>C (p.Asn219His)	THOC6 (N195H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 737853	NM_024339.5(THOC6):c.381T>G (p.Pro127=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737605	NM_024339.5(THOC6):c.366C>T (p.Thr122=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737215	NM_024339.5(THOC6):c.402G>A (p.Leu134=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733176	NM_024339.5(THOC6):c.609C>G (p.Val203=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727902	NM_024339.5(THOC6):c.789C>T (p.His263=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727901	NM_024339.5(THOC6):c.324+10C>T	THOC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725528	NM_024339.5(THOC6):c.858C>T (p.Ser286=)	THOC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 718042	NM_024339.5(THOC6):c.93C>T (p.Ser31=)	THOC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 561208	NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	THOC6 (G190E +1 more)	Single nucleotide variant (missense variant)	not provided +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

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