ClinVar for MedGen (Select 815573) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1647955	NM_002067.5(GNA11):c.889+14C>T	GNA11	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 2 +2 more	GBenign/Likely benign
Select item 1618412	NM_002067.5(GNA11):c.476+13G>A	GNA11	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GLikely benign
Select item 1578150	NM_002067.5(GNA11):c.606-6T>C	GNA11	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GLikely benign
Select item 1569238	NM_002067.5(GNA11):c.501C>T (p.Ile167=)	GNA11	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GLikely benign
Select item 1564725	NM_002067.5(GNA11):c.889+7C>T	GNA11	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1558386	NM_002067.5(GNA11):c.477-12G>A	GNA11	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GLikely benign
Select item 1557723	NM_002067.5(GNA11):c.912G>A (p.Ala304=)	GNA11	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GLikely benign
Select item 1494776	NM_002067.5(GNA11):c.592A>C (p.Asn198His)	GNA11 (N198H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1441235	NM_002067.5(GNA11):c.889+5G>A	GNA11	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GUncertain significance
Select item 1380445	NM_002067.5(GNA11):c.605+5C>T	GNA11	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GUncertain significance
Select item 1346018	NM_002067.5(GNA11):c.605+10G>A	GNA11	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 2 +2 more	GConflicting classifications of pathogenicity
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 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 1166032	NM_002067.5(GNA11):c.322-10G>A	GNA11	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 2 +2 more	GBenign/Likely benign
Select item 1164828	NM_002067.5(GNA11):c.915G>A (p.Ala305=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1152992	NM_002067.5(GNA11):c.987G>A (p.Thr329=)	GNA11	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 2 +3 more	GLikely benign
Select item 1134504	NM_002067.5(GNA11):c.462C>T (p.Ser154=)	GNA11	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 2 +2 more	GLikely benign
Select item 1104401	NM_002067.5(GNA11):c.322-5C>T	GNA11	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 2 +2 more	GLikely benign
Select item 1085884	NM_002067.5(GNA11):c.570C>T (p.Ile190=)	GNA11	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GLikely benign
Select item 1046037	NM_002067.5(GNA11):c.889+4C>T	GNA11	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 2 +2 more	GUncertain significance
Select item 1041640	NM_002067.5(GNA11):c.138C>T (p.Gly46=)	GNA11	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1021156	NM_002067.5(GNA11):c.805G>A (p.Val269Ile)	GNA11 (V269I)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GUncertain significance
Select item 962298	NM_002067.5(GNA11):c.287C>T (p.Thr96Met)	GNA11 (T96M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 155926	NM_002067.5(GNA11):c.179G>T (p.Arg60Leu)	GNA11 (R60L)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 2	GPathogenic
Select item 60666	NM_002067.5(GNA11):c.632C>G (p.Ser211Trp)	GNA11 (S211W)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 2	GPathogenic
Select item 60665	NM_002067.5(GNA11):c.178C>T (p.Arg60Cys)	GNA11 (R60C)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GPathogenic/Likely pathogenic
Select item 60664	NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu)	GNA11 (F341L)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 2	GPathogenic
Select item 60663	NM_002067.5(GNA11):c.542G>A (p.Arg181Gln)	GNA11 (R181Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

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Links from MedGen

Items: 30