ClinVar for MedGen (Select 1386327) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028916	NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)	GCM2 (P335S)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4	GUncertain significance
Select item 1992385	NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)	GCM2 (I175F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1992365	NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)	GCM2 (V389A)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4	GUncertain significance
Select item 1707105	NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)	GCM2 (R47C)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1698744	NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp)	GCM2 (E466D)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4	GUncertain significance
Select item 1341348	NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr)	GCM2 (I383T)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated, 2 +1 more	GLikely pathogenic
Select item 1299514	NM_004752.4(GCM2):c.1A>G (p.Met1Val)	GCM2 (M1V)	Single nucleotide variant (missense variant +1 more)	Hyperparathyroidism 4	GLikely pathogenic
Select item 907881	NM_004752.4(GCM2):c.319G>A (p.Asp107Asn)	GCM2 (D107N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 905293	NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr)	GCM2 (A355T)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4 +2 more	GUncertain significance
Select item 905292	NM_004752.4(GCM2):c.1144G>A (p.Val382Met)	GCM2 (V382M)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4 +3 more	GUncertain significance
Select item 904502	NM_004752.4(GCM2):c.1504A>C (p.Asn502His)	GCM2 (N502H)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4 +2 more	GUncertain significance
Select item 770545	NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)	GCM2	Duplication (inframe_insertion)	GCM2-related disorder +4 more	GLikely benign
Select item 736761	NM_004752.4(GCM2):c.306G>A (p.Arg102=)	GCM2	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 4 +3 more	GBenign/Likely benign
Select item 728562	NM_004752.4(GCM2):c.318C>T (p.Cys106=)	GCM2	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, familial isolated, 2 +3 more	GLikely benign
Select item 712584	NM_004752.4(GCM2):c.129C>G (p.Asp43Glu)	GCM2 (D43E)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated, 2 +2 more	GLikely benign
Select item 712319	NM_004752.4(GCM2):c.943A>G (p.Asn315Asp)	GCM2 (N315D)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4 +3 more	GBenign/Likely benign
Select item 591144	NM_004752.4(GCM2):c.307C>T (p.Pro103Ser)	GCM2 (P103S)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4 +1 more	GUncertain significance
Select item 375590	NM_004752.3(GCM2):c.[1136T>A;751C>G]	GCM2 (L379Q +1 more)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4	GPathogenic
Select item 355021	NM_004752.4(GCM2):c.116G>A (p.Arg39Gln)	GCM2 (R39Q)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated, 2 +2 more	GUncertain significance
Select item 355009	NM_004752.4(GCM2):c.1060A>G (p.Met354Val)	GCM2 (M354V)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated, 2 +3 more	GBenign/Likely benign
Select item 355008	NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)	GCM2 (Y394S)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +4 more	GUncertain significance
Select item 355007	NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln)	GCM2 (R455Q)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +2 more	GUncertain significance
Select item 6092	NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)	GCM2 (G63S)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated, 2 +1 more	GLikely pathogenic

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Items: 23