54463[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 555

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	GPathogenic
Select item 147752	GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3	ANKH, ANKRD33B +156 more	Copy number gain	See cases	GPathogenic
Select item 146802	GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1	ANKH, BASP1 +123 more	Copy number loss	See cases	GPathogenic
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 155086	GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1	BASP1, BASP1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 904492	NM_001034850.3(RETREG1):c.*1653G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352672	NM_001034850.3(RETREG1):c.*1641A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905274	NM_001034850.3(RETREG1):c.*1337A>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905275	NM_001034850.3(RETREG1):c.*1235T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352673	NM_001034850.3(RETREG1):c.*1170A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GLikely benign
Select item 905276	NM_001034850.3(RETREG1):c.*1169G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352674	NM_001034850.3(RETREG1):c.*1160T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905277	NM_001034850.3(RETREG1):c.*1035T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905278	NM_001034850.3(RETREG1):c.*1026T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GLikely benign
Select item 352675	NM_001034850.3(RETREG1):c.*1012G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GBenign
Select item 352676	NM_001034850.3(RETREG1):c.*913G>T	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352677	NM_001034850.3(RETREG1):c.*853G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 906874	NM_001034850.3(RETREG1):c.*757G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352678	NM_001034850.3(RETREG1):c.*592G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GBenign
Select item 906875	NM_001034850.3(RETREG1):c.*581T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 906876	NM_001034850.3(RETREG1):c.*510A>T	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352679	NM_001034850.3(RETREG1):c.*498G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352680	NM_001034850.3(RETREG1):c.*455dup	RETREG1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2	GBenign
Select item 907864	NM_001034850.3(RETREG1):c.*235C>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GBenign
Select item 907865	NM_001034850.3(RETREG1):c.*219A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352681	NM_001034850.3(RETREG1):c.*206A>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 352682	NM_001034850.3(RETREG1):c.*123T>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 1187864	NM_001034850.3(RETREG1):c.70_71dup	RETREG1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 352683	NM_001034850.3(RETREG1):c.*71dup	RETREG1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GBenign
Select item 1199642	NM_001034850.3(RETREG1):c.*71del	RETREG1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 352684	NM_001034850.3(RETREG1):c.*55del	RETREG1	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2	GUncertain significance
Select item 581538	NM_001034850.3(RETREG1):c.1490A>G (p.His497Arg)	RETREG1 (H497R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703623	NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=)	RETREG1	Single nucleotide variant (synonymous variant)	RETREG1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2912374	NM_001034850.3(RETREG1):c.1467C>T (p.Phe489=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 439686	NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)	RETREG1 (K485del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1006918	NM_001034850.3(RETREG1):c.1448A>G (p.Asn483Ser)	RETREG1 (N342S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451871	NM_001034850.3(RETREG1):c.1443G>C (p.Gln481His)	RETREG1 (Q481H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354842	NM_001034850.3(RETREG1):c.1434A>G (p.Ala478=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 952300	NM_001034850.3(RETREG1):c.1433C>T (p.Ala478Val)	RETREG1 (A478V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 470690	NM_001034850.3(RETREG1):c.1426C>G (p.Gln476Glu)	RETREG1 (Q476E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420156	NM_001034850.3(RETREG1):c.1418C>T (p.Thr473Ile)	RETREG1 (T332I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 470689	NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg)	RETREG1 (T473R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GUncertain significance
Select item 538133	NM_001034850.3(RETREG1):c.1415T>C (p.Leu472Pro)	RETREG1 (L472P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 706253	NM_001034850.3(RETREG1):c.1408T>C (p.Leu470=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560295	NM_001034850.3(RETREG1):c.1404T>C (p.Ser468=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 949709	NM_001034850.3(RETREG1):c.1400A>G (p.Glu467Gly)	RETREG1 (E467G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800224	NM_001034850.3(RETREG1):c.1397T>C (p.Ile466Thr)	RETREG1 (I325T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183431	NM_001034850.3(RETREG1):c.1392T>C (p.Asp464=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1799729	NM_001034850.3(RETREG1):c.1392T>G (p.Asp464Glu)	RETREG1 (D323E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1800226	NM_001034850.3(RETREG1):c.1380G>T (p.Gln460His)	RETREG1 (Q319H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 538127	NM_001034850.3(RETREG1):c.1378C>G (p.Gln460Glu)	RETREG1 (Q460E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972382	NM_001034850.3(RETREG1):c.1368_1373delinsCC (p.Glu456fs)	RETREG1 (E315fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 753585	NM_001034850.3(RETREG1):c.1359T>C (p.Asp453=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044141	NM_001034850.3(RETREG1):c.1351G>A (p.Glu451Lys)	RETREG1 (E310K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037116	NM_001034850.3(RETREG1):c.1346C>G (p.Thr449Ser)	RETREG1 (T308S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335578	NM_001034850.3(RETREG1):c.1340C>T (p.Thr447Ile)	RETREG1 (T306I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800000	NM_001034850.3(RETREG1):c.1335G>T (p.Glu445Asp)	RETREG1 (E304D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 843216	NM_001034850.3(RETREG1):c.1321C>T (p.Pro441Ser)	RETREG1 (P441S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2722694	NM_001034850.3(RETREG1):c.1320C>T (p.Ala440=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495765	NM_001034850.3(RETREG1):c.1315G>A (p.Ala439Thr)	RETREG1 (A298T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1498594	NM_001034850.3(RETREG1):c.1311_1312dup (p.Gln438fs)	RETREG1 (Q297fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1443880	NM_001034850.3(RETREG1):c.1303G>A (p.Ala435Thr)	RETREG1 (A435T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 352685	NM_001034850.3(RETREG1):c.1300C>G (p.Gln434Glu)	RETREG1 (Q434E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 1063759	NM_001034850.3(RETREG1):c.1290G>T (p.Glu430Asp)	RETREG1 (E289D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 648833	NM_001034850.3(RETREG1):c.1262T>C (p.Val421Ala)	RETREG1 (V280A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496823	NM_001034850.3(RETREG1):c.1255G>C (p.Ala419Pro)	RETREG1 (A278P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003105	NM_001034850.3(RETREG1):c.1249A>T (p.Ile417Phe)	RETREG1 (I276F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2318659	NM_001034850.3(RETREG1):c.1237G>A (p.Ala413Thr)	RETREG1 (A272T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 507411	NM_001034850.3(RETREG1):c.1236G>C (p.Leu412=)	RETREG1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1411971	NM_001034850.3(RETREG1):c.1228A>T (p.Ser410Cys)	RETREG1 (S269C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1038634	NM_001034850.3(RETREG1):c.1226T>G (p.Met409Arg)	RETREG1 (M409R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373272	NM_001034850.3(RETREG1):c.1226T>C (p.Met409Thr)	RETREG1 (M409T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 6