7132[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	LOC130007176, LOC130007283 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58208	GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3	CD9, LOC112163621 +19 more	Copy number gain	See cases	GUncertain significance
Select item 310095	NM_001065.4(TNFRSF1A):c.*394A>T	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 310096	NM_001065.4(TNFRSF1A):c.*387A>G	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 310097	NM_001065.4(TNFRSF1A):c.*357GTTTT[5]	TNFRSF1A	Microsatellite (3 prime UTR variant +1 more)	Familial Periodic Fever	GUncertain significance
Select item 310098	NM_001065.4(TNFRSF1A):c.*357GTTTT[3]	TNFRSF1A	Microsatellite (3 prime UTR variant +1 more)	Familial Periodic Fever	GUncertain significance
Select item 310099	NM_001065.4(TNFRSF1A):c.*374T>G	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 310100	NM_001065.4(TNFRSF1A):c.*350dup	TNFRSF1A	Duplication (3 prime UTR variant +1 more)	Familial Periodic Fever	GLikely benign
Select item 310101	NM_001065.4(TNFRSF1A):c.*333G>A	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GBenign
Select item 883005	NM_001065.4(TNFRSF1A):c.*297G>A	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 883006	NM_001065.4(TNFRSF1A):c.*263C>T	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 883007	NM_001065.4(TNFRSF1A):c.*252A>G	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GConflicting classifications of pathogenicity
Select item 883008	NM_001065.4(TNFRSF1A):c.*195G>A	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 310102	NM_001065.4(TNFRSF1A):c.*178C>T	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 310103	NM_001065.4(TNFRSF1A):c.*148C>T	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 883795	NM_001065.4(TNFRSF1A):c.*64T>C	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GConflicting classifications of pathogenicity
Select item 310104	NM_001065.4(TNFRSF1A):c.*38C>T	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 1290277	NM_001065.4(TNFRSF1A):c.*22T>C	TNFRSF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2875035	NM_001065.4(TNFRSF1A):c.1367G>A (p.Ter456=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 1586513	NM_001065.4(TNFRSF1A):c.1363A>C (p.Arg455=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2876634	NM_001065.4(TNFRSF1A):c.1359T>G (p.Leu453=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 310105	NM_001065.4(TNFRSF1A):c.1356T>A (p.Ser452Arg)	TNFRSF1A (S452R +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 657575	NM_001065.4(TNFRSF1A):c.1354A>T (p.Ser452Cys)	TNFRSF1A (S299C +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 1414067	NM_001065.4(TNFRSF1A):c.1351C>T (p.Pro451Ser)	TNFRSF1A (P343S +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 3459166	NM_001065.4(TNFRSF1A):c.1349C>T (p.Ala450Val)	TNFRSF1A (A297V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1055756	NM_001065.4(TNFRSF1A):c.1349C>G (p.Ala450Gly)	TNFRSF1A (A297G +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1554847	NM_001065.4(TNFRSF1A):c.1344G>T (p.Pro448=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 1541455	NM_001065.4(TNFRSF1A):c.1344G>A (p.Pro448=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2856624	NM_001065.4(TNFRSF1A):c.1343C>A (p.Pro448Gln)	TNFRSF1A (P295Q +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2001385	NM_001065.4(TNFRSF1A):c.1343C>G (p.Pro448Arg)	TNFRSF1A (P448R +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 1348379	NM_001065.4(TNFRSF1A):c.1343C>T (p.Pro448Leu)	TNFRSF1A (P295L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1104860	NM_001065.4(TNFRSF1A):c.1341C>T (p.Leu447=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 749641	NM_001065.4(TNFRSF1A):c.1329C>A (p.Gly443=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GLikely benign
Select item 450261	NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)	TNFRSF1A (G443V +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1694194	NM_001065.4(TNFRSF1A):c.1327G>T (p.Gly443Cys)	TNFRSF1A (G290C +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1057418	NM_001065.4(TNFRSF1A):c.1325G>A (p.Cys442Tyr)	TNFRSF1A (C289Y +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 1690691	NM_001065.4(TNFRSF1A):c.1324T>A (p.Cys442Ser)	TNFRSF1A (C289S +2 more)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GUncertain significance
Select item 757984	NM_001065.4(TNFRSF1A):c.1323T>C (p.Leu441=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 1522163	NM_001065.4(TNFRSF1A):c.1322T>A (p.Leu441His)	TNFRSF1A (L441H +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 1540164	NM_001065.4(TNFRSF1A):c.1320G>A (p.Ala440=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 3007453	NM_001065.4(TNFRSF1A):c.1318G>A (p.Ala440Thr)	TNFRSF1A (A287T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 3459169	NM_001065.4(TNFRSF1A):c.1313A>C (p.Glu438Ala)	TNFRSF1A (E285A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1019762	NM_001065.4(TNFRSF1A):c.1312G>A (p.Glu438Lys)	TNFRSF1A (E285K +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 998864	NM_001065.4(TNFRSF1A):c.1312G>C (p.Glu438Gln)	TNFRSF1A (E285Q +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 1363820	NM_001065.4(TNFRSF1A):c.1307A>G (p.Asp436Gly)	TNFRSF1A (D283G +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GUncertain significance
Select item 1711334	NM_001065.4(TNFRSF1A):c.1296C>G (p.Gly432=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 839449	NM_001065.4(TNFRSF1A):c.1292T>C (p.Leu431Pro)	TNFRSF1A (L431P +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 792697	NM_001065.4(TNFRSF1A):c.1287C>T (p.Asp429=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2632168	NM_001065.4(TNFRSF1A):c.1285G>T (p.Asp429Tyr)	TNFRSF1A (D276Y +2 more)	Single nucleotide variant (missense variant +1 more)	TNFRSF1A-related disorder	GUncertain significance
Select item 916402	NM_001065.4(TNFRSF1A):c.1271T>C (p.Val424Ala)	TNFRSF1A (V316A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 797869	NM_001065.4(TNFRSF1A):c.1257G>A (p.Glu419=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 569017	NM_001065.4(TNFRSF1A):c.1256A>G (p.Glu419Gly)	TNFRSF1A (E419G +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GUncertain significance
Select item 2714028	NM_001065.4(TNFRSF1A):c.1254G>A (p.Leu418=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 755882	NM_001065.4(TNFRSF1A):c.1251G>T (p.Thr417=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 1515810	NM_001065.4(TNFRSF1A):c.1247C>T (p.Ala416Val)	TNFRSF1A (A416V +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2428676	NM_001065.4(TNFRSF1A):c.1246G>A (p.Ala416Thr)	TNFRSF1A (A263T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1694193	NM_001065.4(TNFRSF1A):c.1238G>A (p.Arg413Gln)	TNFRSF1A (R260Q +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GUncertain significance
Select item 1716353	NM_001065.4(TNFRSF1A):c.1235C>T (p.Pro412Leu)	TNFRSF1A (P259L +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 234721	NM_001065.4(TNFRSF1A):c.1234C>G (p.Pro412Ala)	TNFRSF1A (P412A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2696952	NM_001065.4(TNFRSF1A):c.1233G>C (p.Thr411=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 724747	NM_001065.4(TNFRSF1A):c.1233G>A (p.Thr411=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2538011	NM_001065.4(TNFRSF1A):c.1228C>T (p.Arg410Cys)	TNFRSF1A (R302C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1400533	NM_001065.4(TNFRSF1A):c.1226G>T (p.Arg409Leu)	TNFRSF1A (R256L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 845004	NM_001065.4(TNFRSF1A):c.1225C>T (p.Arg409Trp)	TNFRSF1A (R301W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1998607	NM_001065.4(TNFRSF1A):c.1222A>G (p.Arg408Gly)	TNFRSF1A (R300G +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 811197	NM_001065.4(TNFRSF1A):c.1217C>T (p.Thr406Ile)	TNFRSF1A (T253I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 310106	NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2097730	NM_001065.4(TNFRSF1A):c.1197G>A (p.Ala399=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 509466	NM_001065.4(TNFRSF1A):c.1197G>T (p.Ala399=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GLikely benign
Select item 2182547	NM_001065.4(TNFRSF1A):c.1191C>G (p.Arg397=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 591141	NM_001065.4(TNFRSF1A):c.1189C>T (p.Arg397Cys)	TNFRSF1A (R397C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2642611	NM_001065.4(TNFRSF1A):c.1180C>A (p.Arg394Ser)	TNFRSF1A (R241S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1694192	NM_001065.4(TNFRSF1A):c.1177G>T (p.Gly393Trp)	TNFRSF1A (G240W +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1996369	NM_001065.4(TNFRSF1A):c.1170G>T (p.Leu390=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2803677	NM_001065.4(TNFRSF1A):c.1165G>A (p.Glu389Lys)	TNFRSF1A (E236K +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2175380	NM_001065.4(TNFRSF1A):c.1160G>A (p.Arg387Gln)	TNFRSF1A (R234Q +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 451179	NM_001065.4(TNFRSF1A):c.1159C>T (p.Arg387Trp)	TNFRSF1A (R387W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179212	NM_001065.4(TNFRSF1A):c.1140G>A (p.Leu380=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 1998858	NM_001065.4(TNFRSF1A):c.1126C>A (p.Arg376=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 652548	NM_001065.4(TNFRSF1A):c.1115A>C (p.Lys372Thr)	TNFRSF1A (K219T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 310107	NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2724175	NM_001065.4(TNFRSF1A):c.1108C>T (p.Arg370Cys)	TNFRSF1A (R217C +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2582901	NM_001065.4(TNFRSF1A):c.1103C>A (p.Pro368Gln)	TNFRSF1A (P215Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3459170	NM_001065.4(TNFRSF1A):c.1102C>T (p.Pro368Ser)	TNFRSF1A (P215S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1489418	NM_001065.4(TNFRSF1A):c.1099C>T (p.Pro367Ser)	TNFRSF1A (P367S +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2837512	NM_001065.4(TNFRSF1A):c.1097T>A (p.Val366Glu)	TNFRSF1A (V258E +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 1348637	NM_001065.4(TNFRSF1A):c.1091A>G (p.Glu364Gly)	TNFRSF1A (E211G +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2468676	NM_001065.4(TNFRSF1A):c.1087G>C (p.Val363Leu)	TNFRSF1A (V210L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3459168	NM_001065.4(TNFRSF1A):c.1085T>C (p.Val362Ala)	TNFRSF1A (V254A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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