8792[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 more	Copy number loss	See cases	GPathogenic
Select item 648516	NC_000018.9:g.(?_59713069)_(60131307_?)dup	LOC132090497, LOC130062628 +16 more	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 327723	NM_003839.3(TNFRSF11A):c.-49G>A	LOC130062628, TNFRSF11A	Single nucleotide variant	Osteopetrosis +1 more	GUncertain significance
Select item 259177	NM_003839.4(TNFRSF11A):c.-39G>A	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 888782	NM_003839.4(TNFRSF11A):c.-22G>T	TNFRSF11A, LOC130062628	Single nucleotide variant (5 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 193259	NM_003839.4(TNFRSF11A):c.-9T>C	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 2851784	NM_003839.4(TNFRSF11A):c.1A>G (p.Met1Val)	LOC130062628, TNFRSF11A (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875536	NM_003839.4(TNFRSF11A):c.2T>C (p.Met1Thr)	LOC130062628, TNFRSF11A (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 193260	NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +3 more	GBenign
Select item 1911389	NM_003839.4(TNFRSF11A):c.8C>G (p.Pro3Arg)	LOC130062628, TNFRSF11A (P3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794042	NM_003839.4(TNFRSF11A):c.18_30del (p.Arg7fs)	LOC130062628, TNFRSF11A (R7fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 888783	NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val)	LOC130062628, TNFRSF11A (A5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1928932	NM_003839.4(TNFRSF11A):c.16C>G (p.Arg6Gly)	LOC130062628, TNFRSF11A (R6G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1917270	NM_003839.4(TNFRSF11A):c.16C>A (p.Arg6=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2767008	NM_003839.4(TNFRSF11A):c.17G>T (p.Arg6Leu)	LOC130062628, TNFRSF11A (R6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460965	NM_003839.4(TNFRSF11A):c.17G>A (p.Arg6Gln)	LOC130062628, TNFRSF11A (R6Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851193	NM_003839.4(TNFRSF11A):c.20G>A (p.Arg7Gln)	LOC130062628, TNFRSF11A (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831649	NM_003839.4(TNFRSF11A):c.21G>C (p.Arg7=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079979	NM_003839.4(TNFRSF11A):c.24C>T (p.Arg8=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658564	NM_003839.4(TNFRSF11A):c.24C>G (p.Arg8=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929215	NM_003839.4(TNFRSF11A):c.29C>G (p.Pro10Arg)	LOC130062628, TNFRSF11A (P10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 327724	NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu)	LOC130062628, TNFRSF11A (P10L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 890490	NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GConflicting classifications of pathogenicity
Select item 6300	NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	not provided	GPathogenic
Select item 208143	NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	not provided +2 more	GPathogenic
Select item 1911305	NM_003839.4(TNFRSF11A):c.37G>A (p.Ala13Thr)	LOC130062628, TNFRSF11A (A13T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101966	NM_003839.4(TNFRSF11A):c.39GCT[5] (p.Leu17_Cys18insLeu)	LOC130062628, TNFRSF11A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2874633	NM_003839.4(TNFRSF11A):c.39G>C (p.Ala13=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127815	NM_003839.4(TNFRSF11A):c.44T>C (p.Leu15Pro)	LOC130062628, TNFRSF11A (L15P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6299	NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	Familial expansile osteolysis	GLikely pathogenic
Select item 1659707	NM_003839.4(TNFRSF11A):c.46C>T (p.Leu16=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208144	NM_003839.4(TNFRSF11A):c.49_63dup (p.Leu17_Leu21dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	Paget disease of bone 2, early-onset	GPathogenic
Select item 1376870	NM_003839.4(TNFRSF11A):c.51C>G (p.Leu17=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010498	NM_003839.4(TNFRSF11A):c.52T>C (p.Cys18Arg)	TNFRSF11A (C18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444185	NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)	TNFRSF11A (C18*)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 1354508	NM_003839.4(TNFRSF11A):c.54C>G (p.Cys18Trp)	TNFRSF11A (C18W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523255	NM_003839.4(TNFRSF11A):c.56C>T (p.Ala19Val)	TNFRSF11A (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998348	NM_003839.4(TNFRSF11A):c.59T>G (p.Leu20Arg)	TNFRSF11A (L20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969805	NM_003839.4(TNFRSF11A):c.61C>G (p.Leu21Val)	TNFRSF11A (L21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717974	NM_003839.4(TNFRSF11A):c.61C>T (p.Leu21Phe)	TNFRSF11A (L21F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969209	NM_003839.4(TNFRSF11A):c.68G>T (p.Arg23Leu)	TNFRSF11A (R23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 327725	NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln)	TNFRSF11A (R23Q)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7 +2 more	GUncertain significance
Select item 2704994	NM_003839.4(TNFRSF11A):c.75+4A>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915483	NM_003839.4(TNFRSF11A):c.75+4A>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 193258	NM_003839.4(TNFRSF11A):c.75+5G>A	TNFRSF11A	Single nucleotide variant (intron variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 2785541	NM_003839.4(TNFRSF11A):c.75+9C>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546502	NM_003839.4(TNFRSF11A):c.75+10G>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996886	NM_003839.4(TNFRSF11A):c.75+16G>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629099	NM_003839.4(TNFRSF11A):c.75+17C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670108	NM_003839.4(TNFRSF11A):c.75+18C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 499515	NM_003839.4(TNFRSF11A):c.75+18C>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288097	NM_003839.4(TNFRSF11A):c.76-194G>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2813574	NM_003839.4(TNFRSF11A):c.76-18C>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1465330	NM_003839.4(TNFRSF11A):c.76-4_83dup	TNFRSF11A	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 1560449	NM_003839.4(TNFRSF11A):c.76-8C>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988790	NM_003839.4(TNFRSF11A):c.76G>A (p.Val26Met)	TNFRSF11A (V26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010982	NM_003839.4(TNFRSF11A):c.90C>A (p.Ile30=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389275	NM_003839.4(TNFRSF11A):c.91G>A (p.Ala31Thr)	TNFRSF11A (A31T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2311595	NM_003839.4(TNFRSF11A):c.94C>T (p.Pro32Ser)	TNFRSF11A (P32S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2999585	NM_003839.4(TNFRSF11A):c.95C>T (p.Pro32Leu)	TNFRSF11A (P32L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038076	NM_003839.4(TNFRSF11A):c.95C>G (p.Pro32Arg)	TNFRSF11A (P32R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967764	NM_003839.4(TNFRSF11A):c.98C>T (p.Pro33Leu)	TNFRSF11A (P33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667035	NM_003839.4(TNFRSF11A):c.99A>G (p.Pro33=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659995	NM_003839.4(TNFRSF11A):c.102T>C (p.Cys34=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091436	NM_003839.4(TNFRSF11A):c.104C>T (p.Thr35Ile)	TNFRSF11A (T35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065345	NM_003839.4(TNFRSF11A):c.104C>G (p.Thr35Ser)	TNFRSF11A (T35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367544	NM_003839.4(TNFRSF11A):c.109G>A (p.Glu37Lys)	TNFRSF11A (E37K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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