LOC100130744[gene] - ClinVar

Search results

Items: 93

	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 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	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 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 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 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	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 149185	GRCh38/hg38 5p15.2(chr5:11042340-14796203)x1	ANKH, CTNND2 +65 more	Copy number loss	See cases	GUncertain significance
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 2984019	NM_054027.6(ANKH):c.1365+15_1365+19dup	ANKH, LOC100130744 +1 more	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2961432	NM_054027.6(ANKH):c.1365+19G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1895939	NM_054027.6(ANKH):c.1365+17G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2417567	NM_054027.6(ANKH):c.1365+16C>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1628858	NM_054027.6(ANKH):c.1365+14G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 905791	NM_054027.6(ANKH):c.1365+13C>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign
Select item 1604963	NM_054027.6(ANKH):c.1365+12G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1671867	NM_054027.6(ANKH):c.1365+11C>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2693277	NM_054027.6(ANKH):c.1365+1_1365+9dup	ANKH, LOC100130744 +1 more	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 905792	NM_054027.6(ANKH):c.1365+9G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 1376474	NM_054027.6(ANKH):c.1365+6A>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2077927	NM_054027.6(ANKH):c.1358G>A (p.Arg453Gln)	ANKH, LOC100130744 +1 more (R453Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 905793	NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp)	ANKH, LOC100130744 +1 more (R453W)	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 1664828	NM_054027.6(ANKH):c.1350T>C (p.Tyr450=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2976438	NM_054027.6(ANKH):c.1345T>C (p.Cys449Arg)	ANKH, LOC100130744 +1 more (C449R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1439393	NM_054027.6(ANKH):c.1344G>A (p.Ala448=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1517593	NM_054027.6(ANKH):c.1343C>T (p.Ala448Val)	ANKH, LOC100130744 +1 more (A448V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2636286	NM_054027.6(ANKH):c.1342G>A (p.Ala448Thr)	ANKH, LOC100130744 +1 more (A448T)	Single nucleotide variant (non-coding transcript variant +1 more)	ANKH-related disorder +1 more	GUncertain significance
Select item 351499	NM_054027.6(ANKH):c.1338C>T (p.Ile446=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 1538506	NM_054027.6(ANKH):c.1335C>T (p.Ala445=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2416551	NM_054027.6(ANKH):c.1333G>A (p.Ala445Thr)	ANKH, LOC100130744 +1 more (A445T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 351500	NM_054027.6(ANKH):c.1332C>T (p.Val444=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 1009101	NM_054027.6(ANKH):c.1325C>A (p.Thr442Asn)	ANKH, LOC100130744 +1 more (T442N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1487283	NM_054027.6(ANKH):c.1305G>A (p.Ala435=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 906300	NM_054027.6(ANKH):c.1304C>T (p.Ala435Val)	ANKH, LOC100130744 +1 more (A435V)	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 3239592	NM_054027.6(ANKH):c.1293C>T (p.Gly431=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3343714	NM_054027.6(ANKH):c.1292G>A (p.Gly431Asp)	ANKH, LOC100130744 +1 more (G431D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1312843	NM_054027.6(ANKH):c.1288G>A (p.Val430Met)	ANKH, LOC100130744 +1 more (V430M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1186471	NM_054027.6(ANKH):c.1287C>A (p.Gly429=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 975642	NM_054027.6(ANKH):c.1280C>T (p.Thr427Ile)	ANKH, LOC100130744 +1 more (T427I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 351501	NM_054027.6(ANKH):c.1278G>A (p.Ala426=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 351502	NM_054027.6(ANKH):c.1272C>T (p.His424=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 743006	NM_054027.6(ANKH):c.1266-6C>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 3251622	NM_054027.6(ANKH):c.1266-18T>C	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1196091	NM_054027.6(ANKH):c.1266-231G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1213644	NM_054027.6(ANKH):c.1266-263G>A	OTULIN, ANKH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1201139	NM_054027.6(ANKH):c.1265+198G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1641881	NM_054027.6(ANKH):c.1265+18T>C	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2834175	NM_054027.6(ANKH):c.1265+11A>C	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 351503	NM_054027.6(ANKH):c.1265+6T>C	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign
Select item 3340533	NM_054027.6(ANKH):c.1261dup (p.Leu421fs)	ANKH, LOC100130744 +1 more (L421fs)	Duplication (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant	GPathogenic
Select item 2106215	NM_054027.6(ANKH):c.1262T>G (p.Leu421Arg)	ANKH, LOC100130744 +1 more (L421R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1500158	NM_054027.6(ANKH):c.1246G>A (p.Val416Met)	ANKH, LOC100130744 +1 more (V416M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 283343	NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)	ANKH, LOC100130744 +1 more (A413T)	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +3 more	GBenign/Likely benign
Select item 2708200	NM_054027.6(ANKH):c.1227C>G (p.Ile409Met)	ANKH, LOC100130744 +1 more (I409M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2395571	NM_054027.6(ANKH):c.1225A>G (p.Ile409Val)	ANKH, LOC100130744 +1 more (I409V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1499295	NM_054027.6(ANKH):c.1210T>C (p.Ser404Pro)	ANKH, LOC100130744 +1 more (S404P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 5201	NM_054027.6(ANKH):c.1172T>C (p.Leu391Pro)	LOC100130744, ANKH +1 more (L391P)	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant	GPathogenic
Select item 1166706	NM_054027.6(ANKH):c.1167G>C (p.Gly389=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 5192	NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg)	ANKH, LOC100130744 +1 more (G389R)	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +1 more	GPathogenic
Select item 1973404	NM_054027.6(ANKH):c.1164C>T (p.Thr388=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1531508	NM_054027.6(ANKH):c.1155G>A (p.Ala385=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 5193	NM_054027.6(ANKH):c.1142-4A>G	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2988008	NM_054027.6(ANKH):c.1142-12T>G	LOC100130744, OTULIN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1216918	NM_054027.6(ANKH):c.1142-321G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202854	NM_054027.6(ANKH):c.1141+190TATT[8]	ANKH, LOC100130744 +1 more	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1296862	NM_054027.6(ANKH):c.1141+190TATT[5]	ANKH, LOC100130744 +1 more	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 93