TBPL2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	CGRRF1, LOC130055695 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 2548734	NM_199047.3(TBPL2):c.967C>T (p.Arg323Cys)	FBXO34, TBPL2 (R323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174882	NM_199047.3(TBPL2):c.953C>T (p.Thr318Ile)	FBXO34, TBPL2 (T318I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391894	NM_199047.3(TBPL2):c.898A>G (p.Met300Val)	FBXO34, TBPL2 (M300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547697	NM_199047.3(TBPL2):c.862T>C (p.Tyr288His)	FBXO34, TBPL2 (Y288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711948	NM_199047.3(TBPL2):c.852G>A (p.Gln284=)	FBXO34, TBPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3174889	NM_199047.3(TBPL2):c.809G>C (p.Arg270Thr)	FBXO34, TBPL2 (R270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644254	NM_199047.3(TBPL2):c.768C>T (p.Leu256=)	FBXO34, TBPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3174888	NM_199047.3(TBPL2):c.757G>C (p.Ala253Pro)	FBXO34, TBPL2 (A253P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174887	NM_199047.3(TBPL2):c.734T>C (p.Val245Ala)	FBXO34, TBPL2 (V245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336741	NM_199047.3(TBPL2):c.730C>T (p.Arg244Cys)	FBXO34, TBPL2 (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543771	NM_199047.3(TBPL2):c.632A>G (p.Glu211Gly)	FBXO34, TBPL2 (E211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474423	NM_199047.3(TBPL2):c.631G>A (p.Glu211Lys)	FBXO34, TBPL2 (E211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174886	NM_199047.3(TBPL2):c.547T>G (p.Leu183Val)	FBXO34, TBPL2 (L183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174883	NM_199047.3(TBPL2):c.345C>G (p.Asn115Lys)	FBXO34, TBPL2 (N115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334816	NM_199047.3(TBPL2):c.319G>A (p.Glu107Lys)	FBXO34, TBPL2 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260918	NM_199047.3(TBPL2):c.287A>C (p.Gln96Pro)	FBXO34, TBPL2 (Q96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468000	NM_199047.3(TBPL2):c.142G>A (p.Ala48Thr)	FBXO34, TBPL2 (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355788	NM_199047.3(TBPL2):c.134C>T (p.Pro45Leu)	FBXO34, TBPL2 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302507	NM_199047.3(TBPL2):c.32A>G (p.Tyr11Cys)	FBXO34, TBPL2 (Y11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607486	NM_199047.3(TBPL2):c.8A>G (p.Gln3Arg)	FBXO34, TBPL2 (Q3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533305	NM_199047.3(TBPL2):c.-20C>G	TBPL2, FBXO34	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3174885	NM_199047.3(TBPL2):c.-38C>T	FBXO34, TBPL2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3174884	NM_199047.3(TBPL2):c.-50C>G	FBXO34, TBPL2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2685489	GRCh37/hg19 14q22.3(chr14:55900467-55991743)x1	TBPL2	Copy number loss	not provided	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815659	GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1	ATG14, FBXO34 +11 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 36