ClinVar for Gene (Select 126806792) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2903187	NM_053025.4(MYLK):c.165+4A>G	LOC126806792, MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2838612	NM_053025.4(MYLK):c.165+20G>A	LOC126806792, MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1979586	NM_053025.4(MYLK):c.165+10G>A	LOC126806792, MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 1979395	NM_053025.4(MYLK):c.165+2T>C	LOC126806792, MYLK	Single nucleotide variant (splice donor variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 1329328	NM_053025.4(MYLK):c.165G>A (p.Arg55=)	LOC126806792, MYLK	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1192074	NM_053025.4(MYLK):c.163C>T (p.Arg55Trp)	LOC126806792, MYLK (R55W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1055242	NM_053025.4(MYLK):c.157G>A (p.Glu53Lys)	LOC126806792, MYLK (E53K)	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 852341	NM_053025.4(MYLK):c.151A>G (p.Lys51Glu)	LOC126806792, MYLK (K51E)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 698549	NM_053025.4(MYLK):c.156C>T (p.Phe52=)	LOC126806792, MYLK	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 520009	NM_053025.4(MYLK):c.161G>A (p.Gly54Glu)	LOC126806792, MYLK (G54E)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 519973	NM_053025.4(MYLK):c.164G>A (p.Arg55Gln)	LOC126806792, MYLK (R55Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 423811	NM_053025.4(MYLK):c.159dup (p.Gly54fs)	LOC126806792, MYLK (G54fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	GOLGB1, LOC129389118 +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ALDH1L1-AS1, ALDH1L1-AS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 21