ANKH[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 564

<< 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 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 351387	NM_054027.6(ANKH):c.*6386G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 906739	NM_054027.6(ANKH):c.*6368G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906740	NM_054027.6(ANKH):c.*6235G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906741	NM_054027.6(ANKH):c.*6226G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351388	NM_054027.6(ANKH):c.*6205G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351389	NM_054027.6(ANKH):c.*6163A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351390	NM_054027.6(ANKH):c.*6129G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351391	NM_054027.6(ANKH):c.*6041T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351392	NM_054027.6(ANKH):c.*6034A>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351393	NM_054027.6(ANKH):c.*6012T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 904414	NM_054027.6(ANKH):c.*6006A>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904415	NM_054027.6(ANKH):c.*5980C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905213	NM_054027.6(ANKH):c.*5930C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351394	NM_054027.6(ANKH):c.*5912dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 351396	NM_054027.6(ANKH):c.*5912T>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351395	NM_054027.6(ANKH):c.*5912del	ANKH, OTULIN	Deletion (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 905214	NM_054027.6(ANKH):c.*5906T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905215	NM_054027.6(ANKH):c.*5900T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906804	NM_054027.6(ANKH):c.*5899A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351397	NM_054027.6(ANKH):c.*5898G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351399	NM_054027.6(ANKH):c.*5895C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351398	NM_054027.6(ANKH):c.*5895C>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 907799	NM_054027.6(ANKH):c.*5887G>C	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351400	NM_054027.6(ANKH):c.*5768T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 907800	NM_054027.6(ANKH):c.*5759G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351401	NM_054027.6(ANKH):c.*5725G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351402	NM_054027.6(ANKH):c.*5662C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351403	NM_054027.6(ANKH):c.*5641A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 351404	NM_054027.6(ANKH):c.*5593G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905262	NM_054027.6(ANKH):c.*5579G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905263	NM_054027.6(ANKH):c.*5518C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351405	NM_054027.6(ANKH):c.*5459C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351406	NM_054027.6(ANKH):c.*5281del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351407	NM_054027.6(ANKH):c.*5136del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GLikely benign
Select item 905264	NM_054027.6(ANKH):c.*5062A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351408	NM_054027.6(ANKH):c.*5034del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +2 more	GConflicting classifications of pathogenicity
Select item 906862	NM_054027.6(ANKH):c.*4982T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351409	NM_054027.6(ANKH):c.*4958T>C	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906863	NM_054027.6(ANKH):c.*4811A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906864	NM_054027.6(ANKH):c.*4777C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351410	NM_054027.6(ANKH):c.*4704T>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351411	NM_054027.6(ANKH):c.*4672G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 907853	NM_054027.6(ANKH):c.*4635A>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351412	NM_054027.6(ANKH):c.*4624A>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904540	NM_054027.6(ANKH):c.*4610C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351413	NM_054027.6(ANKH):c.*4513G>A	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904541	NM_054027.6(ANKH):c.*4428T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +2 more	GBenign
Select item 904542	NM_054027.6(ANKH):c.*4351C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351414	NM_054027.6(ANKH):c.*4268C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351415	NM_054027.6(ANKH):c.*4251T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351416	NM_054027.6(ANKH):c.*4250T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351417	NM_054027.6(ANKH):c.*4244T>A	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351418	NM_054027.6(ANKH):c.*4219T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 351419	NM_054027.6(ANKH):c.*4182T>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351420	NM_054027.6(ANKH):c.*4137G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351421	NM_054027.6(ANKH):c.*4103G>A	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351422	NM_054027.6(ANKH):c.*3962T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351423	NM_054027.6(ANKH):c.3928_3929del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351424	NM_054027.6(ANKH):c.*3928C>T	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 351426	NM_054027.6(ANKH):c.*3900T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351425	NM_054027.6(ANKH):c.*3900del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GBenign
Select item 351427	NM_054027.6(ANKH):c.*3899T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904617	NM_054027.6(ANKH):c.*3752G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 351428	NM_054027.6(ANKH):c.*3706G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign

<< First< Prev

Page of 6