ClinVar for Gene (Select 27097) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324277	NM_014409.4(TAF5L):c.386A>G (p.Gln129Arg)	TAF5L (Q129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324276	NM_014409.4(TAF5L):c.1493C>T (p.Ala498Val)	TAF5L (A498V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324275	NM_014409.4(TAF5L):c.1015C>T (p.Arg339Trp)	TAF5L (R339W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173554	NM_014409.4(TAF5L):c.998C>T (p.Thr333Met)	TAF5L (T333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173553	NM_014409.4(TAF5L):c.706G>A (p.Glu236Lys)	TAF5L (E236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173552	NM_014409.4(TAF5L):c.67G>A (p.Val23Met)	TAF5L (V23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173551	NM_014409.4(TAF5L):c.403G>A (p.Asp135Asn)	TAF5L (D135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173550	NM_014409.4(TAF5L):c.1696G>A (p.Val566Ile)	TAF5L (V566I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173549	NM_014409.4(TAF5L):c.1666G>T (p.Val556Leu)	TAF5L (V556L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173548	NM_014409.4(TAF5L):c.1262T>C (p.Ile421Thr)	TAF5L (I421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173547	NM_014409.4(TAF5L):c.1217G>A (p.Arg406His)	TAF5L (R406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	CCSAP, ABCB10 +21 more	Copy number loss	not specified	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2604982	NM_014409.4(TAF5L):c.883T>C (p.Trp295Arg)	TAF5L (W295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590756	NM_014409.4(TAF5L):c.613A>C (p.Thr205Pro)	TAF5L (T205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524160	NM_014409.4(TAF5L):c.271G>A (p.Glu91Lys)	TAF5L (E91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521560	NM_014409.4(TAF5L):c.112A>G (p.Thr38Ala)	TAF5L (T38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516608	NM_014409.4(TAF5L):c.163G>A (p.Ala55Thr)	TAF5L (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	ABCB10, ACTA1 +15 more	Deletion	not provided	GPathogenic
Select item 2404739	NM_014409.4(TAF5L):c.1451C>T (p.Ala484Val)	TAF5L (A484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388570	NM_014409.4(TAF5L):c.1154A>G (p.Tyr385Cys)	TAF5L (Y385C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384869	NM_014409.4(TAF5L):c.1039A>G (p.Ser347Gly)	TAF5L (S347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376910	NM_014409.4(TAF5L):c.1684C>G (p.Gln562Glu)	TAF5L (Q562E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336740	NM_014409.4(TAF5L):c.775A>G (p.Ile259Val)	TAF5L (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321203	NM_014409.4(TAF5L):c.647C>T (p.Ser216Phe)	TAF5L (S216F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319395	NM_014409.4(TAF5L):c.194C>T (p.Ala65Val)	TAF5L (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317937	NM_014409.4(TAF5L):c.691C>G (p.Pro231Ala)	TAF5L (P231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305352	NM_014409.4(TAF5L):c.713C>T (p.Ala238Val)	TAF5L (A238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296070	NM_014409.4(TAF5L):c.1666G>A (p.Val556Met)	TAF5L (V556M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290074	NM_014409.4(TAF5L):c.1016G>A (p.Arg339Gln)	TAF5L (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262003	NM_014409.4(TAF5L):c.1766A>G (p.His589Arg)	TAF5L (H589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246669	NM_014409.4(TAF5L):c.1657A>T (p.Ser553Cys)	TAF5L (S553C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237169	NM_014409.4(TAF5L):c.664G>A (p.Gly222Ser)	TAF5L (G222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204271	NM_014409.4(TAF5L):c.650G>A (p.Arg217His)	TAF5L (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 789959	NM_014409.4(TAF5L):c.153A>G (p.Glu51=)	TAF5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	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
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 70