ClinVar for Gene (Select 27097) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2590756	NM_014409.4(TAF5L):c.613A>C (p.Thr205Pro)	TAF5L (T205P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524160	NM_014409.4(TAF5L):c.271G>A (p.Glu91Lys)	TAF5L (E91K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521560	NM_014409.4(TAF5L):c.112A>G (p.Thr38Ala)	TAF5L (T38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516608	NM_014409.4(TAF5L):c.163G>A (p.Ala55Thr)	TAF5L (A55T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	GALNT2, C1orf131 +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)	Inborn genetic diseases	GUncertain significance
Select item 2388570	NM_014409.4(TAF5L):c.1154A>G (p.Tyr385Cys)	TAF5L (Y385C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384869	NM_014409.4(TAF5L):c.1039A>G (p.Ser347Gly)	TAF5L (S347G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376910	NM_014409.4(TAF5L):c.1684C>G (p.Gln562Glu)	TAF5L (Q562E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336740	NM_014409.4(TAF5L):c.775A>G (p.Ile259Val)	TAF5L (I259V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321203	NM_014409.4(TAF5L):c.647C>T (p.Ser216Phe)	TAF5L (S216F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319395	NM_014409.4(TAF5L):c.194C>T (p.Ala65Val)	TAF5L (A65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317937	NM_014409.4(TAF5L):c.691C>G (p.Pro231Ala)	TAF5L (P231A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305352	NM_014409.4(TAF5L):c.713C>T (p.Ala238Val)	TAF5L (A238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296070	NM_014409.4(TAF5L):c.1666G>A (p.Val556Met)	TAF5L (V556M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290074	NM_014409.4(TAF5L):c.1016G>A (p.Arg339Gln)	TAF5L (R339Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262003	NM_014409.4(TAF5L):c.1766A>G (p.His589Arg)	TAF5L (H589R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246669	NM_014409.4(TAF5L):c.1657A>T (p.Ser553Cys)	TAF5L (S553C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237169	NM_014409.4(TAF5L):c.664G>A (p.Gly222Ser)	TAF5L (G222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204271	NM_014409.4(TAF5L):c.650G>A (p.Arg217His)	TAF5L (R217H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	ABCB10, ACBD3 +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	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +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	CAPN9, CATSPERE +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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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	ABCB10, ACBD3 +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 +1427 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	LOC129932697, LOC129932698 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 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	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 62