"Baylor Genetics"[submitter] AND "MYH11"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028983	NM_002474.3(MYH11):c.5787-4721C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 927059	NM_002474.3(MYH11):c.5528C>G (p.Ser1843Trp)	MYH11, NDE1 (S1843W +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 201086	NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	MYH11, NDE1 (E1833D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1374641	NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys)	MYH11, NDE1 (R1760C +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 252514	NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)	MYH11 (S645L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1028021	NM_002474.3(MYH11):c.1286A>G (p.Tyr429Cys)	MYH11 (Y436C +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 1028022	NM_002474.3(MYH11):c.347C>T (p.Thr116Met)	MYH11 (T116M)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 625835	GRCh37/hg19 16p13.11(chr16:15425965-16199736)	ABCC1, BMERB1 +6 more	Copy number loss	not provided	GPathogenic
Select item 625816	GRCh37/hg19 16p13.11(chr16:15126709-16292235)	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GPathogenic
Select item 625755	GRCh37/hg19 16p13.11(chr16:15126709-16292235)	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GPathogenic
Select item 625687	GRCh37/hg19 16p13.11(chr16:15125627-16291983)	ABCC1, ABCC6 +10 more	Copy number loss	not provided	GPathogenic
Select item 625660	GRCh37/hg19 16p13.11(chr16:15034210-16199736)	ABCC1, BMERB1 +10 more	Copy number gain	not provided	GPathogenic
Select item 625598	GRCh37/hg19 16p13.11(chr16:15168667-16291983)	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GPathogenic
Select item 625597	GRCh37/hg19 16p13.11(chr16:15129970-16284116)	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GPathogenic
Select item 625575	GRCh37/hg19 16p13.11-12.3(chr16:15548310-17988303)	ABCC1, ABCC6 +7 more	Copy number loss	not provided	GPathogenic
Select item 625574	GRCh37/hg19 16p13.11(chr16:15521713-16292235)	ABCC1, ABCC6 +5 more	Copy number loss	not provided	GPathogenic
Select item 625573	GRCh37/hg19 16p13.11(chr16:15493046-16053729)	ABCC1, BMERB1 +5 more	Copy number loss	not provided	GPathogenic
Select item 625572	GRCh37/hg19 16p13.11(chr16:15493046-16291983)	ABCC1, ABCC6 +6 more	Copy number loss	not provided	GPathogenic
Select item 625571	GRCh37/hg19 16p13.11(chr16:15395312-16210889)	ABCC1, BMERB1 +6 more	Copy number loss	not provided	GPathogenic
Select item 625570	GRCh37/hg19 16p13.11(chr16:15126709-16292235)	BMERB1, ABCC1 +10 more	Copy number gain	not provided	GPathogenic
Select item 625569	GRCh37/hg19 16p13.11(chr16:15125627-16286750)	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GPathogenic
Select item 625568	GRCh37/hg19 16p13.11(chr16:14975292-16289532)	ABCC1, ABCC6 +12 more	Copy number gain	not provided	GPathogenic
Select item 625566	GRCh37/hg19 16p13.11(chr16:14975292-16301530)	ABCC1, ABCC6 +12 more	Copy number gain	not provided	GPathogenic
Select item 625565	GRCh37/hg19 16p13.12-13.11(chr16:14766480-16286694)	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GPathogenic

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Items: 24