Related gene-specific medical variations for Gene (Select 56172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361955	NM_054027.6(ANKH):c.1291G>C (p.Gly431Arg)	ANKH (G431R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3359601	NM_054027.6(ANKH):c.516+6T>A	ANKH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 3338249	NM_054027.6(ANKH):c.679G>A (p.Glu227Lys)	ANKH (E227K)	Single nucleotide variant (missense variant)	Craniometaphyseal dysplasia, autosomal dominant	GLikely 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 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 3120971	NM_054027.6(ANKH):c.1474G>A (p.Glu492Lys)	ANKH, OTULIN (E492K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3042442	NM_054027.6(ANKH):c.*10C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	ANKH-related disorder	GLikely benign
Select item 2988008	NM_054027.6(ANKH):c.1142-12T>G	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 2662559	NM_054027.6(ANKH):c.1467_1471del (p.Glu489_Glu490insTer)	ANKH, OTULIN	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2655366	NM_054027.6(ANKH):c.302_321dup	OTULIN, ANKH	Duplication (3 prime UTR variant)	not provided	GBenign
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 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 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 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 2186551	NM_054027.6(ANKH):c.1452C>T (p.Ile484=)	ANKH, OTULIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1924510	NM_054027.6(ANKH):c.1370AGA[1] (p.Lys458del)	ANKH, OTULIN (K458del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1911459	NM_054027.6(ANKH):c.1476A>G (p.Glu492=)	ANKH, OTULIN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1900080	NM_054027.6(ANKH):c.1425_1451del (p.Met475_Asp483del)	ANKH, OTULIN	Deletion (inframe_deletion)	not provided	GUncertain significance
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 1676330	NM_054027.6(ANKH):c.259G>A (p.Val87Ile)	ANKH (V87I)	Single nucleotide variant	not provided +1 more	GUncertain significance
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 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 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 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 1627593	NM_054027.6(ANKH):c.1366-13T>G	ANKH, OTULIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 1469882	NM_054027.6(ANKH):c.1430C>T (p.Pro477Leu)	ANKH, OTULIN (P477L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1467682	NM_054027.6(ANKH):c.1388C>T (p.Ser463Leu)	ANKH, OTULIN (S463L)	Single nucleotide variant (missense variant)	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 1380251	NM_054027.6(ANKH):c.1466A>G (p.Glu489Gly)	ANKH, OTULIN (E489G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1311898	NM_054027.6(ANKH):c.1461G>A (p.Met487Ile)	ANKH, OTULIN (M487I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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
Select item 1273268	NM_054027.6(ANKH):c.1366-240T>C	ANKH, OTULIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265143	NM_054027.6(ANKH):c.1366-79G>A	ANKH, OTULIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239976	NM_054027.6(ANKH):c.1365+274T>A	ANKH, OTULIN	Single nucleotide variant (intron variant)	not provided	GBenign
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 1216570	NM_054027.6(ANKH):c.1366-81C>T	ANKH, OTULIN	Single nucleotide variant (intron variant)	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 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 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 1199457	NM_054027.6(ANKH):c.1389G>A (p.Ser463=)	ANKH, OTULIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1197982	NM_054027.6(ANKH):c.1431G>A (p.Pro477=)	ANKH, OTULIN	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 994774	NM_054027.6(ANKH):c.-6G>C	ANKH	Single nucleotide variant (5 prime UTR variant)	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 974898	NM_054027.6(ANKH):c.13C>T (p.Pro5Ser)	ANKH (P5S)	Single nucleotide variant (missense variant)	Chondrocalcinosis 2	GLikely pathogenic
Select item 907992	NM_054027.6(ANKH):c.*3543G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 907991	NM_054027.6(ANKH):c.*3554C>T	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
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 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 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 907249	NM_054027.6(ANKH):c.*96T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907248	NM_054027.6(ANKH):c.*147T>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907247	NM_054027.6(ANKH):c.*256G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907183	NM_054027.6(ANKH):c.*819T>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 907063	NM_054027.6(ANKH):c.*1894T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907008	NM_054027.6(ANKH):c.*2674C>A	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 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 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 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 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 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 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 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 906253	NM_054027.6(ANKH):c.*309G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906192	NM_054027.6(ANKH):c.*833T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906122	NM_054027.6(ANKH):c.*1372C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906121	NM_054027.6(ANKH):c.*1423G>A	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906120	NM_054027.6(ANKH):c.*1451T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906056	NM_054027.6(ANKH):c.*1988C>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 906055	NM_054027.6(ANKH):c.*2017G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905985	NM_054027.6(ANKH):c.*2674C>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905922	NM_054027.6(ANKH):c.*3562G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905921	NM_054027.6(ANKH):c.*3567G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +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 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 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

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