TAGLN3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 2552672	NM_001008272.2(TAGLN3):c.125T>G (p.Ile42Arg)	TAGLN3 (I42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470771	NM_001008272.2(TAGLN3):c.127G>A (p.Glu43Lys)	TAGLN3 (E43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542955	NM_001008272.2(TAGLN3):c.137C>T (p.Pro46Leu)	TAGLN3 (P46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485755	NM_001008272.2(TAGLN3):c.142G>A (p.Gly48Ser)	TAGLN3 (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327955	NM_001008272.2(TAGLN3):c.211C>G (p.Pro71Ala)	TAGLN3 (P71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390279	NM_001008272.2(TAGLN3):c.308A>G (p.Tyr103Cys)	TAGLN3 (Y103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556472	NM_001008272.2(TAGLN3):c.368C>A (p.Ala123Glu)	TAGLN3 (A123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294328	NM_001008272.2(TAGLN3):c.431A>G (p.Tyr144Cys)	TAGLN3 (Y144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173657	NM_001008272.2(TAGLN3):c.433C>T (p.Arg145Trp)	TAGLN3 (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324318	NM_001008272.2(TAGLN3):c.467A>C (p.Gln156Pro)	TAGLN3 (Q156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173658	NM_001008272.2(TAGLN3):c.516C>G (p.Asn172Lys)	TAGLN3 (N172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324319	NM_001008272.2(TAGLN3):c.565A>G (p.Met189Val)	TAGLN3 (M189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173659	NM_001008272.2(TAGLN3):c.565A>C (p.Met189Leu)	TAGLN3 (M189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 30