79577[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ABL2, ACBD6 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	ABL2, ACBD6 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932189, LOC129932203 +1149 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 560081	Single allele	B3GALT2, LOC129388710 +53 more	Deletion	Hyperparathyroidism 1 +2 more	GPathogenic
Select item 60078	GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1	B3GALT2, CDC73 +21 more	Copy number loss	See cases	GPathogenic
Select item 1177993	NC_000001.11:g.193121735C>A	CDC73	Single nucleotide variant	not provided	GBenign
Select item 294404	NM_024529.4(CDC73):c.-190G>C	CDC73	Single nucleotide variant	Parathyroid carcinoma +2 more	GUncertain significance
Select item 294405	NM_024529.4(CDC73):c.-186C>G	CDC73	Single nucleotide variant	Parathyroid carcinoma +2 more	GUncertain significance
Select item 876378	NM_024529.5(CDC73):c.-167A>G	CDC73	Single nucleotide variant (5 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 294406	NM_024529.5(CDC73):c.-143G>C	CDC73	Single nucleotide variant (5 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 874426	NM_024529.5(CDC73):c.-135C>T	CDC73	Single nucleotide variant (5 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 294407	NM_024529.5(CDC73):c.-121G>A	CDC73	Single nucleotide variant (5 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294408	NM_024529.5(CDC73):c.-95G>A	CDC73	Single nucleotide variant (5 prime UTR variant)	Hyperparathyroidism 1 +2 more	GBenign/Likely benign
Select item 294409	NM_024529.5(CDC73):c.-30C>T	CDC73	Single nucleotide variant (5 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 2575497	NM_024529.5(CDC73):c.-29C>T	CDC73	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 286328	NM_024529.5(CDC73):c.-4dup	CDC73	Duplication (5 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +5 more	GConflicting classifications of pathogenicity
Select item 506631	NM_024529.5(CDC73):c.-4del	CDC73	Deletion (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 21680	NM_024529.5(CDC73):c.-11G>A	CDC73	Single nucleotide variant (5 prime UTR variant)	Hyperparathyroidism 1 +4 more	GConflicting classifications of pathogenicity
Select item 647462	NC_000001.11:g.(?_193122191)_(193250722_?)del	B3GALT2, CDC73 +2 more	Deletion	Parathyroid carcinoma	GPathogenic
Select item 642042	NC_000001.10:g.(?_193091321)_(193219852_?)dup	B3GALT2, CDC73 +2 more	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 583491	NC_000001.11:g.(?_193122191)_(193122341_?)del	CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 261739	NM_024529.5(CDC73):c.-10G>T	CDC73	Single nucleotide variant (5 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +4 more	GBenign/Likely benign
Select item 2662681	NM_024529.5(CDC73):c.-9G>C	CDC73	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2590575	NM_024529.5(CDC73):c.-5G>T	CDC73	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3265048	NM_024529.5(CDC73):c.-4G>T	CDC73	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227876	NM_024529.5(CDC73):c.-4G>C	CDC73	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798662	NM_024529.5(CDC73):c.-2dup	CDC73	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2450590	NM_024529.5(CDC73):c.-3A>G	CDC73	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822502	NM_024529.5(CDC73):c.-2A>G	CDC73	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1784212	NM_024529.5(CDC73):c.-1G>T	CDC73	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2818838	NM_024529.5(CDC73):c.2dup (p.Met1fs)	CDC73 (M1fs)	Duplication (frameshift variant +1 more)	Parathyroid carcinoma	GPathogenic
Select item 582687	NM_024529.5(CDC73):c.1A>G (p.Met1Val)	CDC73 (M1V)	Single nucleotide variant (missense variant +1 more)	Parathyroid carcinoma	GPathogenic
Select item 521635	NM_024529.5(CDC73):c.2T>C (p.Met1Thr)	CDC73 (M1T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 489059	NM_024529.5(CDC73):c.3G>T (p.Met1Ile)	CDC73 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 403893	NM_024529.5(CDC73):c.4del (p.Ala2fs)	CDC73 (A2fs)	Deletion (frameshift variant +1 more)	Parathyroid carcinoma	GPathogenic
Select item 3267	NM_024529.5(CDC73):c.3G>A (p.Met1Ile)	CDC73 (M1I)	Single nucleotide variant (missense variant +1 more)	Hyperparathyroidism 2 with jaw tumors	GPathogenic
Select item 939836	NM_024529.5(CDC73):c.7dup (p.Asp3fs)	CDC73 (D3fs)	Duplication (frameshift variant)	Parathyroid carcinoma	GPathogenic
Select item 1756611	NM_024529.5(CDC73):c.6G>A (p.Ala2=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 855632	NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)	CDC73 (D3G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 252999	NM_024529.5(CDC73):c.8_10delinsCT (p.Asp3fs)	CDC73 (D3fs)	Indel (frameshift variant)	Ossifying fibroma of the jaw	GPathogenic
Select item 1144136	NM_024529.5(CDC73):c.9C>T (p.Asp3=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 579524	NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs)	CDC73 (Y11fs)	Duplication (frameshift variant)	Parathyroid carcinoma	GPathogenic
Select item 3488496	NM_024529.5(CDC73):c.10G>T (p.Val4Leu)	CDC73 (V4L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1069972	NM_024529.5(CDC73):c.10del (p.Val4fs)	CDC73 (V4fs)	Deletion (frameshift variant)	Parathyroid carcinoma	GPathogenic
Select item 857725	NM_024529.5(CDC73):c.10G>C (p.Val4Leu)	CDC73 (V4L)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 1617882	NM_024529.5(CDC73):c.12G>C (p.Val4=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 3281	NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del)	CDC73	Deletion (inframe_deletion)	Parathyroid carcinoma	GPathogenic
Select item 3701193	NM_024529.5(CDC73):c.13C>G (p.Leu5Val)	CDC73 (L5V)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 1771756	NM_024529.5(CDC73):c.13C>A (p.Leu5Ile)	CDC73 (L5I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1425314	NM_024529.5(CDC73):c.13C>T (p.Leu5Phe)	CDC73 (L5F)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 252998	NM_024529.5(CDC73):c.13_16del (p.Leu5fs)	CDC73 (L5fs)	Deletion (frameshift variant)	Ossifying fibroma of the jaw	GPathogenic
Select item 1127785	NM_024529.5(CDC73):c.15T>G (p.Leu5=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +1 more	GLikely benign
Select item 2045701	NM_024529.5(CDC73):c.16A>G (p.Ser6Gly)	CDC73 (S6G)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2760655	NM_024529.5(CDC73):c.17del (p.Ser6fs)	CDC73 (S6fs)	Deletion (frameshift variant)	Parathyroid carcinoma	GPathogenic
Select item 2197389	NM_024529.5(CDC73):c.17G>T (p.Ser6Ile)	CDC73 (S6I)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 1780370	NM_024529.5(CDC73):c.17G>A (p.Ser6Asn)	CDC73 (S6N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2809114	NM_024529.5(CDC73):c.18C>A (p.Ser6Arg)	CDC73 (S6R)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 1579078	NM_024529.5(CDC73):c.18C>T (p.Ser6=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +1 more	GLikely benign
Select item 1093894	NM_024529.5(CDC73):c.21C>G (p.Val7=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 699954	NM_024529.5(CDC73):c.21C>T (p.Val7=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +1 more	GLikely benign
Select item 1554999	NM_024529.5(CDC73):c.22C>T (p.Leu8=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2459503	NM_024529.5(CDC73):c.24G>A (p.Leu8=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3268	NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)	CDC73 (R9*)	Single nucleotide variant (nonsense)	Parathyroid carcinoma +1 more	GPathogenic
Select item 3664317	NM_024529.5(CDC73):c.26G>T (p.Arg9Leu)	CDC73 (R9L)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 1719933	NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)	CDC73 (R9P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1404245	NM_024529.5(CDC73):c.26G>A (p.Arg9Gln)	CDC73 (R9Q)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 412620	NM_024529.5(CDC73):c.27A>G (p.Arg9=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2702399	NM_024529.5(CDC73):c.28C>T (p.Gln10Ter)	CDC73 (Q10*)	Single nucleotide variant (nonsense)	Parathyroid carcinoma	GPathogenic
Select item 2770312	NM_024529.5(CDC73):c.29A>G (p.Gln10Arg)	CDC73 (Q10R)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 1691936	NM_024529.5(CDC73):c.29A>T (p.Gln10Leu)	CDC73 (Q10L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1650076	NM_024529.5(CDC73):c.30G>A (p.Gln10=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +1 more	GLikely benign
Select item 1728800	NM_024529.5(CDC73):c.31T>C (p.Tyr11His)	CDC73 (Y11H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2734057	NM_024529.5(CDC73):c.35_41del (p.Asn12fs)	CDC73 (N12fs)	Deletion (frameshift variant)	Parathyroid carcinoma	GPathogenic
Select item 241495	NM_024529.5(CDC73):c.33C>T (p.Tyr11=)	CDC73	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2869482	NM_024529.5(CDC73):c.34A>C (p.Asn12His)	CDC73 (N12H)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 2847407	NM_024529.5(CDC73):c.34A>G (p.Asn12Asp)	CDC73 (N12D)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 3488530	NM_024529.5(CDC73):c.35A>G (p.Asn12Ser)	CDC73 (N12S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 706738	NM_024529.5(CDC73):c.36C>T (p.Asn12=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2095086	NM_024529.5(CDC73):c.37A>T (p.Ile13Phe)	CDC73 (I13F)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 1016680	NM_024529.5(CDC73):c.37A>G (p.Ile13Val)	CDC73 (I13V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3668821	NM_024529.5(CDC73):c.38T>C (p.Ile13Thr)	CDC73 (I13T)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 3998659	NM_024529.5(CDC73):c.39C>T (p.Ile13=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2040186	NM_024529.5(CDC73):c.39C>G (p.Ile13Met)	CDC73 (I13M)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 1738633	NM_024529.5(CDC73):c.41A>C (p.Gln14Pro)	CDC73 (Q14P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 838171	NM_024529.5(CDC73):c.41A>G (p.Gln14Arg)	CDC73 (Q14R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 659234	NM_024529.5(CDC73):c.43AAG[1] (p.Lys16del)	CDC73 (K16del)	Microsatellite (inframe_deletion)	Parathyroid carcinoma	GUncertain significance
Select item 2758093	NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)	CDC73 (K15*)	Single nucleotide variant (nonsense)	Parathyroid carcinoma	GPathogenic
Select item 3574787	NM_024529.5(CDC73):c.44A>G (p.Lys15Arg)	CDC73 (K15R)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 1010100	NM_024529.5(CDC73):c.46A>G (p.Lys16Glu)	CDC73 (K16E)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 1743172	NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)	CDC73 (K16R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1720638	NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)	CDC73 (K16N)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 1338411	NM_024529.5(CDC73):c.49del (p.Glu17fs)	CDC73 (E17fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1078985	NM_024529.5(CDC73):c.48G>A (p.Lys16=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 3829905	NM_024529.5(CDC73):c.49G>A (p.Glu17Lys)	CDC73 (E17K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2024534	NM_024529.5(CDC73):c.52A>G (p.Ile18Val)	CDC73 (I18V)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2820972	NM_024529.5(CDC73):c.53T>C (p.Ile18Thr)	CDC73 (I18T)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 567635	NM_024529.5(CDC73):c.53_54del (p.Ile18fs)	CDC73 (I18fs)	Deletion (frameshift variant)	Parathyroid carcinoma	GPathogenic
Select item 3273	NM_024529.5(CDC73):c.54del (p.Ile18fs)	CDC73 (I18fs)	Deletion (frameshift variant)	Cystic parathyroid adenoma	GPathogenic
Select item 3227877	NM_024529.5(CDC73):c.54T>A (p.Ile18=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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