"PreventionGenetics, part of Exact Sciences"[submitter] AND "GCM2"[gen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2720535	NM_004752.4(GCM2):c.1236G>C (p.Ser412=)	GCM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2053988	NM_004752.4(GCM2):c.1217G>A (p.Arg406Gln)	GCM2 (R406Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 770545	NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)	GCM2	Duplication (inframe_insertion)	not provided +4 more	GLikely benign
Select item 2045428	NM_004752.4(GCM2):c.1149CAC[5] (p.Thr387_Lys388insThr)	GCM2	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 3040457	NM_004752.4(GCM2):c.1110G>A (p.Thr370=)	GCM2	Single nucleotide variant (synonymous variant)	GCM2-related condition	GLikely benign
Select item 906893	NM_004752.4(GCM2):c.687G>A (p.Gly229=)	GCM2	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +2 more	GConflicting classifications of pathogenicity
Select item 1992385	NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)	GCM2 (I175F)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4 +2 more	GUncertain significance
Select item 708912	NM_004752.4(GCM2):c.350C>T (p.Ala117Val)	GCM2 (A117V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 906894	NM_004752.4(GCM2):c.345G>A (p.Lys115=)	GCM2	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +1 more	GConflicting classifications of pathogenicity
Select item 728562	NM_004752.4(GCM2):c.318C>T (p.Cys106=)	GCM2	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 4 +3 more	GLikely benign
Select item 736761	NM_004752.4(GCM2):c.306G>A (p.Arg102=)	GCM2	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, familial isolated, 2 +3 more	GBenign/Likely benign
Select item 2418600	NM_004752.4(GCM2):c.282C>T (p.Pro94=)	GCM2	Single nucleotide variant (synonymous variant)	GCM2-related condition +1 more	GLikely benign
Select item 2848272	NM_004752.4(GCM2):c.222C>T (p.Gly74=)	GCM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3041710	NM_004752.4(GCM2):c.199C>T (p.Arg67Cys)	GCM2 (R67C)	Single nucleotide variant (missense variant)	GCM2-related condition	GLikely pathogenic
Select item 723831	NM_004752.4(GCM2):c.168G>C (p.Lys56Asn)	GCM2 (K56N)	Single nucleotide variant (missense variant)	GCM2-related condition +3 more	GBenign/Likely benign
Select item 723832	NM_004752.4(GCM2):c.157G>A (p.Asp53Asn)	GCM2 (D53N)	Single nucleotide variant (missense variant)	GCM2-related condition +3 more	GBenign/Likely benign
Select item 355020	NM_004752.4(GCM2):c.156C>T (p.Ser52=)	GCM2	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +2 more	GConflicting classifications of pathogenicity
Select item 768062	NM_004752.4(GCM2):c.21G>C (p.Gln7His)	GCM2 (Q7H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign