ClinVar for Gene (Select 129685) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173589	NM_138572.3(TAF8):c.854G>T (p.Gly285Val)	TAF8 (G285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173588	NM_138572.3(TAF8):c.63G>C (p.Gln21His)	TAF8 (Q21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173587	NM_138572.3(TAF8):c.563G>A (p.Arg188Gln)	TAF8 (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173586	NM_138572.3(TAF8):c.556G>A (p.Val186Met)	TAF8 (V186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173585	NM_138572.3(TAF8):c.435C>G (p.His145Gln)	TAF8 (H145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173584	NM_138572.3(TAF8):c.11C>T (p.Ala4Val)	TAF8 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067953	NM_138572.3(TAF8):c.365-1G>T	TAF8	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GLikely pathogenic
Select item 2656546	NM_138572.3(TAF8):c.*2188T>A	TAF8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2637896	NM_138572.3(TAF8):c.45+5G>A	TAF8	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GPathogenic
Select item 2595893	NM_138572.3(TAF8):c.316A>G (p.Thr106Ala)	TAF8 (T106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584403	NM_138572.3(TAF8):c.433C>G (p.His145Asp)	TAF8 (H145D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GUncertain significance
Select item 2548733	NM_138572.3(TAF8):c.562C>T (p.Arg188Trp)	TAF8 (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544343	NM_138572.3(TAF8):c.657C>G (p.Phe219Leu)	TAF8 (F219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542636	NM_138572.3(TAF8):c.176A>C (p.Glu59Ala)	TAF8 (E59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523084	NM_138572.3(TAF8):c.178A>G (p.Thr60Ala)	TAF8 (T60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515774	NM_138572.3(TAF8):c.574C>T (p.Arg192Cys)	TAF8 (R192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489247	NM_138572.3(TAF8):c.809C>A (p.Thr270Asn)	TAF8 (T270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2317816	NM_138572.3(TAF8):c.640A>G (p.Ile214Val)	TAF8 (I214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206908	NM_138572.3(TAF8):c.38C>A (p.Ser13Tyr)	TAF8 (S13Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2205647	NM_138572.3(TAF8):c.98G>A (p.Arg33Gln)	TAF8 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808459	GRCh37/hg19 6p21.1(chr6:42043510-42274148)x3	C6orf132, GUCA1A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1698453	NM_138572.3(TAF8):c.489G>A (p.Pro163=)	TAF8	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GPathogenic
Select item 1698452	NM_138572.3(TAF8):c.45+4A>G	TAF8	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GPathogenic
Select item 1686247	NM_138572.3(TAF8):c.806_809del (p.Asn269fs)	TAF8 (N269fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 1686246	NM_138572.3(TAF8):c.719_720del (p.Thr240fs)	TAF8 (T240fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 979550	GRCh37/hg19 6p21.1(chr6:41922573-42024827)x1	CCND3, TAF8	Copy number loss	not provided	GLikely benign
Select item 795892	NM_138572.3(TAF8):c.171C>T (p.Ser57=)	TAF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638647	NM_138572.3(TAF8):c.781-1G>A	TAF8	Single nucleotide variant (splice acceptor variant)	TAF8-related condition +3 more	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 493566	GRCh37/hg19 6p21.1(chr6:42039993-42270812)x3	TAF8, TRERF1 +4 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 37