"Ambry Genetics"[submitter] AND "LOC129999169"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1775465	NM_001753.5(CAV1):c.156C>A (p.Val52=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 128610	NM_001753.5(CAV1):c.156C>T (p.Val52=)	LOC129999169, CAV1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1778695	NM_001753.5(CAV1):c.171A>G (p.Lys57=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1778694	NM_001753.5(CAV1):c.171A>C (p.Lys57Asn)	CAV1, LOC129999169 (K26N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 705413	NM_001753.5(CAV1):c.174C>T (p.His58=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +1 more	GLikely benign
Select item 2240865	NM_001753.5(CAV1):c.179A>G (p.Asn60Ser)	CAV1, LOC129999169 (N60S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1644286	NM_001753.5(CAV1):c.183T>C (p.Asp61=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3221775	NM_001753.5(CAV1):c.187G>T (p.Val63Leu)	CAV1, LOC129999169 (V32L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585858	NM_001753.5(CAV1):c.191T>G (p.Val64Gly)	CAV1, LOC129999169 (V64G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474315	NM_001753.5(CAV1):c.192C>T (p.Val64=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign