TAF13[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146897	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	AKNAD1, CFAP276 +21 more	Copy number gain	See cases	GUncertain significance
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 545139	NC_000001.11:g.(?_109048899)_(109079629_?)del	LOC129931087, LOC129931088 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 2320338	NM_005645.4(TAF13):c.236G>T (p.Gly79Val)	TAF13 (G79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299252	NM_005645.4(TAF13):c.204+1G>T	TAF13	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 60	GLikely pathogenic
Select item 3324205	NM_005645.4(TAF13):c.196A>G (p.Thr66Ala)	TAF13 (T66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173402	NM_005645.4(TAF13):c.166A>G (p.Ile56Val)	TAF13 (I56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759161	NM_005645.4(TAF13):c.150T>C (p.Tyr50=)	TAF13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986182	NM_005645.4(TAF13):c.125G>A (p.Gly42Asp)	TAF13 (G42D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030003	NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys)	TAF13 (Y41C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 60	GUncertain significance
Select item 375726	NM_005645.4(TAF13):c.119T>A (p.Met40Lys)	TAF13 (M40K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 60	GPathogenic
Select item 3251418	NM_005645.4(TAF13):c.97dup (p.Ser33fs)	TAF13 (S33fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 375727	NM_005645.4(TAF13):c.92T>A (p.Leu31His)	TAF13 (L31H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 60	GPathogenic
Select item 3324206	NM_005645.4(TAF13):c.48A>T (p.Glu16Asp)	TAF13 (E16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041189	NM_005645.4(TAF13):c.27+10C>G	TAF13	Single nucleotide variant (intron variant)	TAF13-related disorder	GLikely benign
Select item 3026376	NM_005645.4(TAF13):c.15A>G (p.Glu5=)	TAF13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585673	NM_005645.4(TAF13):c.-2G>A	TAF13	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 3063332	GRCh37/hg19 1p13.3(chr1:109402942-109807574)x3	CELSR2, CFAP276 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 2685815	GRCh37/hg19 1p13.3(chr1:109494147-109818306)x3	CLCC1, ELAPOR1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423588	NC_000001.10:g.(?_109428145)_(109817590_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808806	GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3	AKNAD1, CELSR2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1527248	GRCh37/hg19 1p13.3(chr1:109396970-109807574)	AKNAD1, CELSR2 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 1010549	NC_000001.10:g.(?_109428145)_(109816671_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 814117	GRCh37/hg19 1p13.3(chr1:109396970-109807574)x1	GPSM2, CFAP276 +8 more	Copy number loss	not provided	GUncertain significance
Select item 687687	GRCh37/hg19 1p13.3(chr1:109612444-109857815)x3	CELSR2, CFAP276 +7 more	Copy number gain	not provided	GUncertain significance
Select item 686200	GRCh37/hg19 1p13.3(chr1:109425142-109703243)x3	CFAP276, CLCC1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 585239	GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3	ELAPOR1, GPSM2 +6 more	Copy number gain	not provided	Gnot provided
Select item 443506	GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3	AKNAD1, CELSR2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 47