ClinVar for Gene (Select 56172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363732	NM_054027.6(ANKH):c.916A>G (p.Asn306Asp)	ANKH (N306D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
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 3120953	NM_054027.6(ANKH):c.1114C>T (p.Arg372Trp)	ANKH (R372W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
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 3029519	NM_054027.6(ANKH):c.649C>G (p.His217Asp)	ANKH (H217D)	Single nucleotide variant (missense variant)	ANKH-related disorder	GUncertain significance
Select item 3019219	NM_054027.6(ANKH):c.886A>G (p.Ile296Val)	ANKH (I296V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018095	NM_054027.6(ANKH):c.1041C>T (p.Asn347=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017758	NM_054027.6(ANKH):c.204C>T (p.Asp68=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016861	NM_054027.6(ANKH):c.314-18C>G	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015264	NM_054027.6(ANKH):c.687+9A>C	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013014	NM_054027.6(ANKH):c.150C>T (p.Ala50=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010979	NM_054027.6(ANKH):c.1011+15T>A	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007537	NM_054027.6(ANKH):c.408C>T (p.Ala136=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005152	NM_054027.6(ANKH):c.1103T>G (p.Val368Gly)	ANKH (V368G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999140	NM_054027.6(ANKH):c.383C>T (p.Thr128Met)	ANKH (T128M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998533	NM_054027.6(ANKH):c.887T>C (p.Ile296Thr)	ANKH (I296T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994529	NM_054027.6(ANKH):c.1072G>A (p.Gly358Arg)	ANKH (G358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991615	NM_054027.6(ANKH):c.189G>C (p.Thr63=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	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 2987756	NM_054027.6(ANKH):c.1011+19T>A	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984420	NM_054027.6(ANKH):c.313+11C>T	ANKH	Single nucleotide variant (intron variant)	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 2982895	NM_054027.6(ANKH):c.327A>C (p.Leu109Phe)	ANKH (L109F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977551	NM_054027.6(ANKH):c.377G>C (p.Ser126Thr)	ANKH (S126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2974551	NM_054027.6(ANKH):c.646A>G (p.Ile216Val)	ANKH (I216V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962045	NM_054027.6(ANKH):c.222G>A (p.Leu74=)	ANKH	Single nucleotide variant (synonymous variant)	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 2959747	NM_054027.6(ANKH):c.517-18C>T	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957402	NM_054027.6(ANKH):c.284C>T (p.Ala95Val)	ANKH (A95V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954804	NM_054027.6(ANKH):c.313+15C>T	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920406	NM_054027.6(ANKH):c.651C>T (p.His217=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909213	NM_054027.6(ANKH):c.34C>T (p.Pro12Ser)	ANKH (P12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867160	NM_054027.6(ANKH):c.128A>T (p.Glu43Val)	ANKH (E43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857006	NM_054027.6(ANKH):c.936G>A (p.Leu312=)	ANKH	Single nucleotide variant (synonymous variant)	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 2833739	NM_054027.6(ANKH):c.878T>C (p.Leu293Ser)	ANKH (L293S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768837	NM_054027.6(ANKH):c.745G>A (p.Ala249Thr)	ANKH (A249T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766190	NM_054027.6(ANKH):c.630G>A (p.Leu210=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760688	NM_054027.6(ANKH):c.194C>G (p.Pro65Arg)	ANKH (P65R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759767	NM_054027.6(ANKH):c.339T>A (p.Ile113=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750147	NM_054027.6(ANKH):c.1011+12G>C	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721959	NM_054027.6(ANKH):c.409G>A (p.Ala137Thr)	ANKH (A137T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2685147	GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1	ANKH, ANKRD33B +15 more	Copy number loss	not provided	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2662559	NM_054027.6(ANKH):c.1467_1471del (p.Glu489_Glu490insTer)	ANKH, OTULIN	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2662114	NM_054027.6(ANKH):c.1011G>A (p.Thr337=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2655369	NM_054027.6(ANKH):c.96+93C>T	ANKH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2655368	NM_054027.6(ANKH):c.384G>A (p.Thr128=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655367	NM_054027.6(ANKH):c.910G>A (p.Asp304Asn)	ANKH (D304N)	Single nucleotide variant (missense 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 2635991	NM_054027.6(ANKH):c.976A>C (p.Lys326Gln)	ANKH (K326Q)	Single nucleotide variant (missense variant)	ANKH-related disorder	GUncertain significance
Select item 2627751	NM_054027.6(ANKH):c.314-2A>T	ANKH	Single nucleotide variant (splice acceptor variant)	Craniometaphyseal dysplasia, autosomal dominant	GLikely pathogenic
Select item 2612092	NM_054027.6(ANKH):c.421A>G (p.Met141Val)	ANKH (M141V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578145	NM_054027.6(ANKH):c.320G>A (p.Ser107Asn)	ANKH (S107N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560146	NM_054027.6(ANKH):c.1025T>C (p.Met342Thr)	ANKH (M342T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446724	GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3	BASP1, RETREG1 +19 more	Copy number gain	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GPathogenic
Select item 2427164	NC_000005.9:g.(?_13692093)_(14871567_?)dup	ANKH, DNAH5 +4 more	Duplication	not provided	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 2410106	NM_054027.6(ANKH):c.295G>A (p.Val99Ile)	ANKH (V99I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2384075	NM_054027.6(ANKH):c.517G>T (p.Val173Phe)	ANKH (V173F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337853	NM_054027.6(ANKH):c.881C>T (p.Thr294Met)	ANKH (T294M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313418	NM_054027.6(ANKH):c.1012C>G (p.Leu338Val)	ANKH (L338V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283164	NM_054027.6(ANKH):c.890G>A (p.Arg297His)	ANKH (R297H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263984	NM_054027.6(ANKH):c.518T>C (p.Val173Ala)	ANKH (V173A)	Single nucleotide variant (missense variant)	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 2183130	NM_054027.6(ANKH):c.96+5G>A	ANKH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2175071	NM_054027.6(ANKH):c.610C>T (p.Arg204Cys)	ANKH (R204C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170233	NM_054027.6(ANKH):c.1083T>G (p.Phe361Leu)	ANKH (F361L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168943	NM_054027.6(ANKH):c.867A>G (p.Pro289=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117421	NM_054027.6(ANKH):c.1112T>C (p.Leu371Ser)	ANKH (L371S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2088061	NM_054027.6(ANKH):c.822+11C>T	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087585	NM_054027.6(ANKH):c.1012-12C>G	ANKH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085806	NM_054027.6(ANKH):c.962C>A (p.Ala321Glu)	ANKH (A321E)	Single nucleotide variant (missense variant)	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 2044194	NM_054027.6(ANKH):c.313+13del	ANKH	Deletion (intron variant)	not provided	GLikely benign

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