"PreventionGenetics, part of Exact Sciences"[submitter] AND "GNA11"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2886578	NM_002067.5(GNA11):c.6T>C (p.Thr2=)	GNA11	Single nucleotide variant (synonymous variant)	GNA11-related disorder +1 more	GLikely benign
Select item 3035000	NM_002067.5(GNA11):c.117G>A (p.Glu39=)	GNA11	Single nucleotide variant (synonymous variant)	GNA11-related disorder	GLikely benign
Select item 258545	NM_002067.5(GNA11):c.189C>T (p.His63=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1166476	NM_002067.5(GNA11):c.240C>T (p.Tyr80=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 258546	NM_002067.5(GNA11):c.321+18T>G	GNA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3052465	NM_002067.5(GNA11):c.436G>A (p.Asp146Asn)	GNA11 (D146N)	Single nucleotide variant (missense variant)	GNA11-related disorder	GUncertain significance
Select item 1166475	NM_002067.5(GNA11):c.489C>T (p.Asp163=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1154044	NM_002067.5(GNA11):c.534C>T (p.Asp178=)	GNA11	Single nucleotide variant (synonymous variant)	GNA11-related disorder +1 more	GLikely benign
Select item 714387	NM_002067.5(GNA11):c.705C>T (p.Tyr235=)	GNA11	Single nucleotide variant (synonymous variant)	GNA11-related disorder +4 more	GLikely benign
Select item 2633038	NM_002067.5(GNA11):c.709C>T (p.Gln237Ter)	GNA11 (Q237*)	Single nucleotide variant (nonsense)	GNA11-related disorder	GUncertain significance
Select item 258547	NM_002067.5(GNA11):c.736-20T>G	GNA11	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258548	NM_002067.5(GNA11):c.771C>T (p.Thr257=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1166847	NM_002067.5(GNA11):c.858G>C (p.Ser286=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 730070	NM_002067.5(GNA11):c.885C>T (p.Phe295=)	GNA11	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 2 +3 more	GBenign/Likely benign
Select item 1170134	NM_002067.5(GNA11):c.889+8G>A	GNA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258549	NM_002067.5(GNA11):c.889+8G>C	GNA11	Single nucleotide variant (intron variant)	not specified +1 more	GBenign