ClinVar for Gene (Select 226) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338430	GRCh37/hg19 16p11.2(chr16:29624260-29874118)x3	ALDOA, C16orf54 +9 more	Copy number gain	HNSHA due to aldolase A deficiency	GLikely pathogenic
Select item 3283831	NM_001243177.4(ALDOA):c.377C>A (p.Pro126His)	ALDOA, LOC112694756 (P72H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3243485	NC_000016.9:g.(?_29824376)_(30081533_?)del	TAOK2, TLCD3B +13 more	Deletion	Episodic kinesigenic dyskinesia	GPathogenic
Select item 3148952	GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1	ALDOA, ASPHD1 +27 more	Copy number loss	See cases	GPathogenic
Select item 3148938	GRCh37/hg19 16p11.2(chr16:29580021-30190029)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 3148921	GRCh37/hg19 16p11.2(chr16:29591327-30190029)x1	ALDOA, ASPHD1 +24 more	Copy number loss	See cases	GPathogenic
Select item 3148854	GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3	ALDOA, ASPHD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 3063436	GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063430	GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063416	GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
Select item 3040743	NM_001243177.4(ALDOA):c.30C>T (p.Ser10=)	ALDOA, LOC112694756	Single nucleotide variant (synonymous variant +1 more)	ALDOA-related disorder	GLikely benign
Select item 3024604	GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1	QPRT, SEZ6L2 +25 more	Copy number loss	not provided	GPathogenic
Select item 3024603	GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	ALDOA, ASPHD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 3023597	NM_001243177.4(ALDOA):c.487-14C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 3021909	NM_001243177.4(ALDOA):c.702+7C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 3013293	NM_001243177.4(ALDOA):c.787-2A>G	ALDOA, LOC112694756	Single nucleotide variant (splice acceptor variant)	HNSHA due to aldolase A deficiency	GLikely pathogenic
Select item 3010638	NM_001243177.4(ALDOA):c.541+8C>T	LOC112694756, ALDOA	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 3006415	NM_001243177.4(ALDOA):c.486+19G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2989202	NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2965589	NM_001243177.4(ALDOA):c.1162-14C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2959766	NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2957206	NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)	LOC112694756, ALDOA	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2956786	NM_001243177.4(ALDOA):c.786+2T>C	ALDOA, LOC112694756	Single nucleotide variant (splice donor variant)	HNSHA due to aldolase A deficiency	GLikely pathogenic
Select item 2955074	NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)	ALDOA, LOC112694756 (R255C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2918884	NM_001243177.4(ALDOA):c.1161+9A>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2914036	NM_001243177.4(ALDOA):c.1248C>T (p.His416=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2911800	NM_001243177.4(ALDOA):c.487-19G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2907378	NM_001243177.4(ALDOA):c.486+18G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2897358	NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2887855	NM_001243177.4(ALDOA):c.702+20A>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2884795	NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2882271	NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2874121	NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2871633	NM_001243177.4(ALDOA):c.275-15A>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2867845	NM_001243177.4(ALDOA):c.786+11A>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2864674	NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2819101	NM_001243177.4(ALDOA):c.1161+9_1161+19dup	ALDOA, LOC112694756	Duplication (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2803048	NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)	ALDOA, LOC112694756 (L117fs +1 more)	Deletion (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GPathogenic
Select item 2800487	NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)	ALDOA, LOC112694756 (S336T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2799232	NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2797662	NM_001243177.4(ALDOA):c.787-4C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2794834	NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)	ALDOA, LOC112694756 (V254L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2788160	NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)	ALDOA, LOC112694756 (T52I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2781213	NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2770762	NM_001243177.4(ALDOA):c.703-12C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2742443	NM_001243177.4(ALDOA):c.275-11G>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2730389	NM_001243177.4(ALDOA):c.486+9A>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2709201	NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)	ALDOA, LOC112694756 (D68N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2698627	NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2697160	NM_001243177.4(ALDOA):c.702+12G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2690882	NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)	ALDOA, LOC112694756 (A332T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2690881	NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)	ALDOA, LOC112694756 (L333fs +1 more)	Deletion (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2690880	NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)	ALDOA, LOC112694756 (E108G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2690879	NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)	ALDOA, LOC112694756 (L337V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2685573	GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685572	GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1	ALDOA, ASPHD1 +24 more	Copy number loss	not provided	GPathogenic
Select item 2685571	GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2685568	GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2684804	GRCh37/hg19 16p11.2(chr16:29654589-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GPathogenic
Select item 2684803	GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 2683355	NM_001243177.4(ALDOA):c.1111AAG[1] (p.Lys372del)	ALDOA, LOC112694756 (K318del +1 more)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2683353	NM_001243177.4(ALDOA):c.202A>G (p.Lys68Glu)	ALDOA, LOC112694756 (K14E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2672674	GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1	ASPHD1, ALDOA +28 more	Copy number loss	not provided	GPathogenic
Select item 2671579	Single allele	ALDOA, ASPHD1 +25 more	Duplication	not provided	GPathogenic
Select item 2646378	NM_001243177.4(ALDOA):c.648C>T (p.Leu216=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2628565	NM_001243177.4(ALDOA):c.64T>C (p.Phe22Leu)	ALDOA, LOC112694756 (F22L)	Single nucleotide variant (missense variant +1 more)	ALDOA-related disorder	GUncertain significance
Select item 2609515	NM_001243177.4(ALDOA):c.878C>G (p.Ala293Gly)	ALDOA, LOC112694756 (A293G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582950	GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3	ALDOA, ASPHD1 +25 more	Copy number gain	not provided	GPathogenic
Select item 2580337	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580331	GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580320	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3	ALDOA, ASPHD1 +25 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580312	GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1	ALDOA, ASPHD1 +28 more	Copy number loss	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 2576522	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2570962	GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2563363	NM_001243177.4(ALDOA):c.1227G>T (p.Glu409Asp)	ALDOA, LOC112694756 (E355D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551514	NM_001243177.4(ALDOA):c.1196C>T (p.Pro399Leu)	ALDOA, LOC112694756 (P345L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525026	NM_001243177.4(ALDOA):c.1016A>G (p.Asn339Ser)	ALDOA, LOC112694756 (N339S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524473	NM_001243177.4(ALDOA):c.227G>A (p.Arg76His)	ALDOA, LOC112694756 (R22H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506560	GRCh37/hg19 16p11.2(chr16:29495011-30206548)	ALDOA, ASPHD1 +27 more	Copy number loss	Infantile convulsions and choreoathetosis	GPathogenic
Select item 2499634	GRCh38/hg38 16p11.2(chr16:29653297-30181026)	ALDOA, ASPHD1 +90 more	Copy number loss	See cases	GPathogenic
Select item 2468614	NM_001243177.4(ALDOA):c.310G>A (p.Glu104Lys)	ALDOA, LOC112694756 (E104K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438983	NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)	ALDOA, LOC112694756 (N283S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438982	NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)	ALDOA, LOC112694756 (A308V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438981	NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)	ALDOA, LOC112694756 (K318E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438980	NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)	ALDOA, LOC112694756 (R173H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438979	NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)	ALDOA, LOC112694756 (K330R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2428602	NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2428580	NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)	ALDOA, LOC112694756 (T255A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2418505	NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2416717	NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)	ALDOA, LOC112694756 (R258H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2332870	NM_001243177.4(ALDOA):c.896C>T (p.Ser299Phe)	ALDOA, LOC112694756 (S245F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298695	NM_001243177.4(ALDOA):c.1198A>G (p.Ser400Gly)	ALDOA, LOC112694756 (S346G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287697	NM_001243177.4(ALDOA):c.1033C>T (p.Pro345Ser)	ALDOA, LOC112694756 (P291S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201731	NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2198672	NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2196420	NM_001243177.4(ALDOA):c.703-9G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2196079	NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign

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