TAGLN2[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 2367729	NM_003564.3(TAGLN2):c.551C>T (p.Ala184Val)	TAGLN2 (A184V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315273	NM_003564.3(TAGLN2):c.541A>G (p.Asn181Asp)	TAGLN2 (N202D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530383	NM_003564.3(TAGLN2):c.476C>A (p.Pro159His)	TAGLN2 (P159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476959	NM_003564.3(TAGLN2):c.380G>A (p.Arg127Gln)	TAGLN2 (R148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173655	NM_003564.3(TAGLN2):c.345C>A (p.Asp115Glu)	TAGLN2 (D136E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173654	NM_003564.3(TAGLN2):c.304C>T (p.Arg102Cys)	TAGLN2 (R102C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324317	NM_003564.3(TAGLN2):c.269T>G (p.Met90Arg)	TAGLN2 (M111R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173653	NM_003564.3(TAGLN2):c.263A>G (p.Lys88Arg)	TAGLN2 (K109R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455080	NM_003564.3(TAGLN2):c.255G>A (p.Met85Ile)	TAGLN2 (M106I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619109	NM_003564.3(TAGLN2):c.253A>G (p.Met85Val)	TAGLN2 (M85V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248549	NM_003564.3(TAGLN2):c.23A>G (p.Tyr8Cys)	TAGLN2 (Y29C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1340149	GRCh37/hg19 1q23.2(chr1:159875152-159930959)x1	IGSF9, SLAMF9 +1 more	Copy number loss	not provided	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 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
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

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Items: 23