ClinVar for Gene (Select 129685) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370988	NM_138572.3(TAF8):c.575G>A (p.Arg192His)	TAF8 (R192H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362435	NM_138572.3(TAF8):c.505G>T (p.Val169Leu)	TAF8 (V169L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GUncertain significance
Select item 3324294	NM_138572.3(TAF8):c.728C>T (p.Ser243Leu)	TAF8 (S243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324293	NM_138572.3(TAF8):c.421C>T (p.Pro141Ser)	TAF8 (P141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324292	NM_138572.3(TAF8):c.625A>G (p.Ser209Gly)	TAF8 (S209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324291	NM_138572.3(TAF8):c.808A>G (p.Thr270Ala)	TAF8 (T270A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	BYSL, CCND3 +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 disorder +3 more	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 43