TAF1B[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 3173416	NM_005680.3(TAF1B):c.64G>T (p.Gly22Cys)	TAF1B (G22C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3173420	NM_005680.3(TAF1B):c.95C>T (p.Thr32Ile)	TAF1B (T32I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2336797	NM_005680.3(TAF1B):c.113C>T (p.Thr38Ile)	TAF1B (T38I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2484398	NM_005680.3(TAF1B):c.137A>G (p.Asn46Ser)	TAF1B (N46S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2575901	NM_005680.3(TAF1B):c.197dup (p.Asn66fs)	TAF1B (N66fs)	Duplication (5 prime UTR variant +1 more)	Orofacial cleft 1	GUncertain significance
Select item 2531140	NM_005680.3(TAF1B):c.293C>A (p.Pro98Gln)	TAF1B (P98Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2370321	NM_005680.3(TAF1B):c.398C>T (p.Thr133Met)	TAF1B (T133M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3173411	NM_005680.3(TAF1B):c.472C>G (p.Pro158Ala)	TAF1B (P158A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3173412	NM_005680.3(TAF1B):c.491C>T (p.Ala164Val)	TAF1B (A164V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2364901	NM_005680.3(TAF1B):c.524C>G (p.Pro175Arg)	TAF1B (P175R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3173413	NM_005680.3(TAF1B):c.548A>T (p.Gln183Leu)	TAF1B (Q183L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3173414	NM_005680.3(TAF1B):c.595T>G (p.Ser199Ala)	TAF1B (S199A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270236	NM_005680.3(TAF1B):c.602G>A (p.Arg201Gln)	TAF1B (R201Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552545	NM_005680.3(TAF1B):c.685A>G (p.Ile229Val)	TAF1B (I229V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173417	NM_005680.3(TAF1B):c.736A>G (p.Ile246Val)	TAF1B (I246V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2212341	NM_005680.3(TAF1B):c.776A>G (p.Tyr259Cys)	TAF1B (Y259C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556987	NM_005680.3(TAF1B):c.796T>C (p.Phe266Leu)	TAF1B (F266L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173418	NM_005680.3(TAF1B):c.902A>G (p.Tyr301Cys)	TAF1B (Y301C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173419	NM_005680.3(TAF1B):c.917T>C (p.Ile306Thr)	TAF1B (I306T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495288	NM_005680.3(TAF1B):c.967A>C (p.Ser323Arg)	TAF1B (S323R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404550	NM_005680.3(TAF1B):c.971T>C (p.Leu324Ser)	TAF1B (L69S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398251	NM_005680.3(TAF1B):c.1033A>G (p.Ile345Val)	TAF1B (I90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469775	NM_005680.3(TAF1B):c.1174A>G (p.Lys392Glu)	TAF1B (K137E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513517	NM_005680.3(TAF1B):c.1348G>A (p.Val450Met)	TAF1B (V195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173408	NM_005680.3(TAF1B):c.1390A>G (p.Thr464Ala)	TAF1B (T209A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298887	NM_005680.3(TAF1B):c.1481T>A (p.Leu494His)	TAF1B (L239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173409	NM_005680.3(TAF1B):c.1508A>G (p.Gln503Arg)	TAF1B (Q248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173410	NM_005680.3(TAF1B):c.1520C>A (p.Thr507Asn)	TAF1B (T252N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544342	NM_005680.3(TAF1B):c.1681G>A (p.Val561Met)	TAF1B (V561M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323318	NM_005680.3(TAF1B):c.1720A>C (p.Ser574Arg)	TAF1B (S319R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2426589	NC_000002.11:g.(?_7968276)_(10192634_?)dup	ADAM17, ASAP2 +10 more	Duplication	not provided	GUncertain significance
Select item 2426587	NC_000002.11:g.(?_7968276)_(10192634_?)del	ADAM17, ASAP2 +10 more	Deletion	not provided	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 814217	GRCh37/hg19 2p25.1(chr2:9834027-10064791)x3	TAF1B	Copy number gain	not provided	GLikely benign
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 53