"GeneDx"[submitter] AND "GCM2"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 372876	NM_004752.4(GCM2):c.1504A>G (p.Asn502Asp)	GCM2 (N502D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 905292	NM_004752.4(GCM2):c.1144G>A (p.Val382Met)	GCM2 (V382M)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +3 more	GUncertain significance
Select item 355011	NM_004752.4(GCM2):c.903C>T (p.Asp301=)	GCM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 355012	NM_004752.4(GCM2):c.897T>C (p.Pro299=)	GCM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 355013	NM_004752.4(GCM2):c.607G>A (p.Gly203Ser)	GCM2 (G203S)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +1 more	GBenign/Likely benign
Select item 1238938	NM_004752.4(GCM2):c.583-72A>T	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294887	NM_004752.4(GCM2):c.583-96G>A	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237868	NM_004752.4(GCM2):c.582+221A>C	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232205	NM_004752.4(GCM2):c.582+88G>A	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3375520	NM_004752.4(GCM2):c.518G>T (p.Ser173Ile)	GCM2 (S173I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 355014	NM_004752.4(GCM2):c.462G>A (p.Lys154=)	GCM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 433164	NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter)	GCM2 (Y136*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1266786	NM_004752.4(GCM2):c.344-82T>G	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243427	NM_004752.4(GCM2):c.344-189T>A	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281775	NM_004752.4(GCM2):c.344-290A>G	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283739	NM_004752.4(GCM2):c.343+163G>A	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041710	NM_004752.4(GCM2):c.199C>T (p.Arg67Cys)	GCM2 (R67C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3359776	NM_004752.4(GCM2):c.115C>T (p.Arg39Ter)	GCM2 (R39*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1231059	NM_004752.4(GCM2):c.91-130T>C	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247515	NM_004752.4(GCM2):c.91-242A>G	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278694	NM_004752.4(GCM2):c.91-271A>G	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279200	NM_004752.4(GCM2):c.90+135_90+152del	GCM2	Deletion (intron variant)	not provided	GBenign
Select item 1228067	NM_004752.4(GCM2):c.90+143_90+152del	GCM2	Deletion (intron variant)	not provided	GBenign
Select item 1286866	NM_004752.4(GCM2):c.90+98CA[17]	GCM2	Microsatellite (intron variant)	not provided	GBenign
Select item 1286852	NM_004752.4(GCM2):c.90+98CA[25]	GCM2	Microsatellite (intron variant)	not provided	GBenign
Select item 1274667	NM_004752.4(GCM2):c.90+98CA[22]	GCM2	Microsatellite (intron variant)	not provided	GBenign
Select item 1271559	NM_004752.4(GCM2):c.90+98CA[24]	GCM2	Microsatellite (intron variant)	not provided	GBenign
Select item 1262178	NM_004752.4(GCM2):c.90+98CA[23]	GCM2	Microsatellite (intron variant)	not provided	GBenign
Select item 1233992	NM_004752.4(GCM2):c.90+53G>A	GCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 355023	NM_004752.4(GCM2):c.-44T>C	GCM2	Single nucleotide variant (5 prime UTR variant)	Familial hypoparathyroidism +1 more	GBenign
Select item 369512	NM_004752.3(GCM2):c.-74C>T	GCM2	Single nucleotide variant	not provided +1 more	GBenign
Select item 1181081	NM_004752.4(GCM2):c.-149G>A	GCM2, LOC123575666	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1257208	NM_004752.4(GCM2):c.-248G>C	GCM2, LOC123575666	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 37