TFEB[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	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 1678409	NM_001271944.2(TFEB):c.1367C>T (p.Pro456Leu)	TFEB (P371L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2393070	NM_001271944.2(TFEB):c.1162C>T (p.Pro388Ser)	TFEB (P303S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375056	NM_001271944.2(TFEB):c.1139C>T (p.Pro380Leu)	TFEB (P295L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176519	NM_001271944.2(TFEB):c.1114C>A (p.Leu372Met)	TFEB (L386M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176518	NM_001271944.2(TFEB):c.1006A>G (p.Met336Val)	TFEB (M251V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176525	NM_001271944.2(TFEB):c.908G>A (p.Arg303His)	TFEB (R303H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176524	NM_001271944.2(TFEB):c.901C>A (p.His301Asn)	TFEB (H301N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176523	NM_001271944.2(TFEB):c.808G>A (p.Val270Met)	TFEB (V270M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176522	NM_001271944.2(TFEB):c.793G>A (p.Ala265Thr)	TFEB (A265T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327657	NM_001271944.2(TFEB):c.701G>A (p.Arg234Gln)	TFEB (R248Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294831	NM_001271944.2(TFEB):c.419C>T (p.Pro140Leu)	TFEB (P140L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325629	NM_001271944.2(TFEB):c.331G>A (p.Ala111Thr)	TFEB (A125T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717491	NM_001271944.2(TFEB):c.168C>T (p.Pro56=)	TFEB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3176520	NM_001271944.2(TFEB):c.151C>T (p.Pro51Ser)	TFEB (P65S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614184	NM_001271944.2(TFEB):c.100A>T (p.Met34Leu)	TFEB (M48L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
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	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	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 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 518451	t(6;17)(p21.1;q24.3)	FRS3, MDFI +2 more	Translocation	Camptomelic dysplasia	GLikely pathogenic

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Items: 25