GCM2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 149264	GRCh38/hg38 6p24.3-24.2(chr6:10542021-11058096)x1	C6orf52, ELOVL2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 354994	NM_004752.4(GCM2):c.*746A>G	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 354995	NM_004752.4(GCM2):c.*726dup	GCM2	Duplication (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 354996	NM_004752.4(GCM2):c.*717C>T	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 354997	NM_004752.4(GCM2):c.*649T>C	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 906828	NM_004752.4(GCM2):c.*643A>T	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GLikely benign
Select item 907817	NM_004752.4(GCM2):c.*639C>T	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 354998	NM_004752.4(GCM2):c.*634C>T	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GBenign
Select item 354999	NM_004752.4(GCM2):c.*630T>A	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 355000	NM_004752.4(GCM2):c.*611T>C	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 355001	NM_004752.4(GCM2):c.*607A>G	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 907818	NM_004752.4(GCM2):c.*588A>G	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 355003	NM_004752.4(GCM2):c.*521C>A	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GBenign
Select item 355002	NM_004752.4(GCM2):c.*521C>T	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 355004	NM_004752.4(GCM2):c.*217T>A	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism +1 more	GUncertain significance
Select item 355005	NM_004752.4(GCM2):c.*50G>A	GCM2	Single nucleotide variant (3 prime UTR variant)	Familial hypoparathyroidism	GUncertain significance
Select item 3344220	NM_004752.4(GCM2):c.1509T>C (p.Asn503=)	GCM2	Single nucleotide variant (synonymous variant)	GCM2-related disorder	GLikely benign
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 372876	NM_004752.4(GCM2):c.1504A>G (p.Asn502Asp)	GCM2 (N502D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1909060	NM_004752.4(GCM2):c.1488T>C (p.Gly496=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286665	NM_004752.4(GCM2):c.1484T>C (p.Val495Ala)	GCM2 (V495A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246750	NM_004752.4(GCM2):c.1462G>T (p.Ala488Ser)	GCM2 (A488S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 355006	NM_004752.4(GCM2):c.1431T>A (p.Thr477=)	GCM2	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism	GUncertain significance
Select item 2115141	NM_004752.4(GCM2):c.1408del (p.Ser470fs)	GCM2 (S470fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2010336	NM_004752.4(GCM2):c.1399_1402del (p.Pro467fs)	GCM2 (P467fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1065410	NM_004752.4(GCM2):c.1400del (p.Pro467fs)	GCM2 (P467fs)	Deletion (frameshift variant)	Hypoparathyroidism, familial isolated, 2	GPathogenic
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 717588	NM_004752.4(GCM2):c.1395C>T (p.His465=)	GCM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1065411	NM_004752.4(GCM2):c.1389del (p.His465fs)	GCM2 (H465fs)	Deletion (frameshift variant)	Hypoparathyroidism, familial isolated, 2	GPathogenic
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 1999959	NM_004752.4(GCM2):c.1352C>T (p.Ala451Val)	GCM2 (A451V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2285256	NM_004752.4(GCM2):c.1343T>A (p.Met448Lys)	GCM2 (M448K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 904503	NM_004752.4(GCM2):c.1342A>G (p.Met448Val)	GCM2 (M448V)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +1 more	GConflicting classifications of pathogenicity
Select item 2146946	NM_004752.4(GCM2):c.1299G>A (p.Pro433=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759831	NM_004752.4(GCM2):c.1298C>T (p.Pro433Leu)	GCM2 (P433L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3099046	NM_004752.4(GCM2):c.1288T>G (p.Trp430Gly)	GCM2 (W430G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 64536	NM_004752.4(GCM2):c.1277A>C (p.Tyr426Ser)	GCM2 (Y426S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281028	NM_004752.4(GCM2):c.1259A>G (p.Asp420Gly)	GCM2 (D420G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2720535	NM_004752.4(GCM2):c.1236G>C (p.Ser412=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390525	NM_004752.4(GCM2):c.1229G>A (p.Ser410Asn)	GCM2 (S410N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053988	NM_004752.4(GCM2):c.1217G>A (p.Arg406Gln)	GCM2 (R406Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770545	NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)	GCM2	Duplication (inframe_insertion)	Hypoparathyroidism, familial isolated, 2 +3 more	GLikely benign
Select item 355008	NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)	GCM2 (Y394S)	Single nucleotide variant (missense variant)	Hypoparathyroidism, familial isolated, 2 +4 more	GUncertain significance
Select item 985931	NM_004752.4(GCM2):c.1174C>T (p.Gln392Ter)	GCM2 (Q392*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 64535	NM_004752.4(GCM2):c.1168T>C (p.Ser390Pro)	GCM2 (S390P)	Single nucleotide variant (missense variant)	not provided	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 905291	NM_004752.4(GCM2):c.1162A>G (p.Lys388Glu)	GCM2 (K388E)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism	GUncertain significance
Select item 2045428	NM_004752.4(GCM2):c.1149CAC[5] (p.Thr387_Lys388insThr)	GCM2	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 752861	NM_004752.4(GCM2):c.1155C>G (p.Thr385=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1341348	NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr)	GCM2 (I383T)	Single nucleotide variant (missense variant)	Hyperparathyroidism 4 +1 more	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 375598	NM_004752.4(GCM2):c.1136T>A (p.Leu379Gln)	GCM2 (L379Q)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 3040457	NM_004752.4(GCM2):c.1110G>A (p.Thr370=)	GCM2	Single nucleotide variant (synonymous variant)	GCM2-related disorder	GLikely benign
Select item 1324460	NM_004752.4(GCM2):c.1109C>T (p.Thr370Met)	GCM2 (T370M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2417241	NM_004752.4(GCM2):c.1104C>A (p.Tyr368Ter)	GCM2 (Y368*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2531062	NM_004752.4(GCM2):c.1102T>A (p.Tyr368Asn)	GCM2 (Y368N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742268	NM_004752.4(GCM2):c.1089G>A (p.Glu363=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3352394	NM_004752.4(GCM2):c.1044T>C (p.His348=)	GCM2	Single nucleotide variant (synonymous variant)	GCM2-related disorder	GLikely benign
Select item 3281029	NM_004752.4(GCM2):c.1044T>A (p.His348Gln)	GCM2 (H348Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 355010	NM_004752.4(GCM2):c.961G>A (p.Glu321Lys)	GCM2 (E321K)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism	GUncertain significance
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 749900	NM_004752.4(GCM2):c.942C>G (p.Val314=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64544	NM_004752.4(GCM2):c.906A>T (p.Thr302=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	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 64623	NM_004752.4(GCM2):c.893del (p.Ile298fs)	GCM2 (I298fs)	Deletion (frameshift variant)	Hypoparathyroidism, familial isolated, 2	GPathogenic
Select item 3281030	NM_004752.4(GCM2):c.862T>C (p.Tyr288His)	GCM2 (Y288H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444139	NM_004752.4(GCM2):c.853del (p.Ser285fs)	GCM2 (S285fs)	Deletion (frameshift variant)	Hypoparathyroidism, familial isolated, 2	GLikely pathogenic
Select item 2288485	NM_004752.4(GCM2):c.853T>G (p.Ser285Ala)	GCM2 (S285A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 64543	NM_004752.4(GCM2):c.852T>C (p.Asn284=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 720267	NM_004752.4(GCM2):c.844T>G (p.Tyr282Asp)	GCM2 (Y282D)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +1 more	GBenign
Select item 64542	NM_004752.4(GCM2):c.833C>T (p.Ala278Val)	GCM2 (A278V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64541	NM_004752.4(GCM2):c.831G>T (p.Leu277Phe)	GCM2 (L277F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2403833	NM_004752.4(GCM2):c.820A>C (p.Ser274Arg)	GCM2 (S274R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2085904	NM_004752.4(GCM2):c.786A>T (p.Ser262=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 906892	NM_004752.4(GCM2):c.783C>T (p.Tyr261=)	GCM2	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism	GUncertain significance
Select item 64540	NM_004752.4(GCM2):c.782A>T (p.Tyr261Phe)	GCM2 (Y261F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581314	NM_004752.4(GCM2):c.764T>G (p.Met255Arg)	GCM2 (M255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375599	NM_004752.4(GCM2):c.751C>G (p.Gln251Glu)	GCM2 (Q251E)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3353242	NM_004752.4(GCM2):c.713C>G (p.Ser238Cys)	GCM2 (S238C)	Single nucleotide variant (missense variant)	GCM2-related disorder	GUncertain significance
Select item 906893	NM_004752.4(GCM2):c.687G>A (p.Gly229=)	GCM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 792032	NM_004752.4(GCM2):c.679A>G (p.Ile227Val)	GCM2 (I227V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 64539	NM_004752.4(GCM2):c.665A>T (p.Glu222Val)	GCM2 (E222V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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