ClinVar for Gene (Select 81620) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243662	NC_000016.9:g.(?_88851289)_(89383486_?)del	ACSF3, ANKRD11 +10 more	Deletion	not provided	GPathogenic
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3243321	NC_000016.9:g.(?_88851289)_(88909257_?)del	APRT, CDT1 +2 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3141753	NM_030928.4(CDT1):c.961A>G (p.Met321Val)	CDT1 (M321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141752	NM_030928.4(CDT1):c.737C>T (p.Ser246Phe)	CDT1 (S246F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141751	NM_030928.4(CDT1):c.724G>A (p.Val242Met)	CDT1 (V242M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141750	NM_030928.4(CDT1):c.616A>G (p.Met206Val)	CDT1 (M206V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141749	NM_030928.4(CDT1):c.58A>C (p.Ile20Leu)	CDT1, LOC130059759 (I20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141748	NM_030928.4(CDT1):c.583G>A (p.Glu195Lys)	CDT1 (E195K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141747	NM_030928.4(CDT1):c.566A>T (p.Lys189Met)	CDT1 (K189M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141746	NM_030928.4(CDT1):c.484C>G (p.Pro162Ala)	CDT1 (P162A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141745	NM_030928.4(CDT1):c.443G>A (p.Gly148Glu)	CDT1 (G148E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141744	NM_030928.4(CDT1):c.1621C>T (p.Arg541Cys)	CDT1 (R541C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141743	NM_030928.4(CDT1):c.152C>T (p.Ala51Val)	CDT1 (A51V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141742	NM_030928.4(CDT1):c.1467C>G (p.Ile489Met)	CDT1 (I489M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141740	NM_030928.4(CDT1):c.116C>T (p.Ala39Val)	LOC130059759, CDT1 (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065541	NM_030928.4(CDT1):c.1381C>A (p.Leu461Met)	CDT1 (L461M)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GUncertain significance
Select item 3064758	NM_030928.4(CDT1):c.610G>A (p.Val204Met)	CDT1 (V204M)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance
Select item 3053568	NM_030928.4(CDT1):c.1107C>T (p.Asn369=)	CDT1	Single nucleotide variant (synonymous variant)	CDT1-related disorder	GLikely benign
Select item 3042174	NM_030928.4(CDT1):c.1276-7G>T	CDT1	Single nucleotide variant (intron variant)	CDT1-related disorder	GLikely benign
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 3020976	NM_030928.4(CDT1):c.898C>T (p.Gln300Ter)	CDT1 (Q300*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3018683	NM_030928.4(CDT1):c.975G>A (p.Glu325=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016396	NM_030928.4(CDT1):c.1601C>T (p.Ala534Val)	CDT1 (A534V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3011994	NM_030928.4(CDT1):c.1008C>T (p.Asn336=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992519	NM_030928.4(CDT1):c.1272G>A (p.Glu424=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987482	NM_030928.4(CDT1):c.1123-11C>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982884	NM_030928.4(CDT1):c.123C>T (p.Ala41=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982705	NM_030928.4(CDT1):c.833-17C>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978863	NM_030928.4(CDT1):c.888G>A (p.Gln296=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975235	NM_030928.4(CDT1):c.631T>C (p.Ser211Pro)	CDT1 (S211P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967076	NM_030928.4(CDT1):c.687-19C>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965150	NM_030928.4(CDT1):c.686+11G>A	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963744	NM_030928.4(CDT1):c.850C>G (p.Pro284Ala)	CDT1 (P284A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962555	NM_030928.4(CDT1):c.352-14del	CDT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2961124	NM_030928.4(CDT1):c.1083G>A (p.Gln361=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2959908	NM_030928.4(CDT1):c.1478-5C>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956651	NM_030928.4(CDT1):c.687-20C>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910406	NM_030928.4(CDT1):c.1279C>T (p.Arg427Ter)	CDT1 (R427*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2908851	NM_030928.4(CDT1):c.1035G>A (p.Pro345=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905323	NM_030928.4(CDT1):c.351+8del	CDT1	Deletion (intron variant)	not provided	GBenign
Select item 2902828	NM_030928.4(CDT1):c.813C>T (p.Ile271=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898834	NM_030928.4(CDT1):c.687-10C>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898809	NM_030928.4(CDT1):c.1143A>G (p.Gln381=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894497	NM_030928.4(CDT1):c.729C>T (p.Tyr243=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893484	NM_030928.4(CDT1):c.832+7G>C	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890252	NM_030928.4(CDT1):c.552C>T (p.Leu184=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889306	NM_030928.4(CDT1):c.1002C>T (p.Arg334=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888539	NM_030928.4(CDT1):c.1599T>G (p.Thr533=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885393	NM_030928.4(CDT1):c.546G>A (p.Pro182=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2882761	NM_030928.4(CDT1):c.833-9G>A	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876635	NM_030928.4(CDT1):c.357C>T (p.Thr119=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867890	NM_030928.4(CDT1):c.156C>T (p.Arg52=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861223	NM_030928.4(CDT1):c.162C>T (p.Pro54=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858842	NM_030928.4(CDT1):c.100A>C (p.Arg34=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854721	NM_030928.4(CDT1):c.120G>C (p.Pro40=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833311	NM_030928.4(CDT1):c.228+27_228+55del	CDT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2822042	NM_030928.4(CDT1):c.109C>T (p.Leu37Phe)	CDT1, LOC130059759 (L37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820705	NM_030928.4(CDT1):c.686+15G>A	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820373	NM_030928.4(CDT1):c.293T>C (p.Ile98Thr)	CDT1 (I98T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819466	NM_030928.4(CDT1):c.246C>A (p.Thr82=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809046	NM_030928.4(CDT1):c.1243C>T (p.Leu415=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808901	NM_030928.4(CDT1):c.1521G>T (p.Pro507=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795886	NM_030928.4(CDT1):c.126C>G (p.Ser42=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795676	NM_030928.4(CDT1):c.687-18G>A	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794768	NM_030928.4(CDT1):c.345G>T (p.Gln115His)	CDT1 (Q115H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790333	NM_030928.4(CDT1):c.686+13G>A	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762191	NM_030928.4(CDT1):c.228+17G>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755613	NM_030928.4(CDT1):c.123C>G (p.Ala41=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739619	NM_030928.4(CDT1):c.847G>A (p.Ala283Thr)	CDT1 (A283T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738439	NM_030928.4(CDT1):c.1144T>C (p.Leu382=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709412	NM_030928.4(CDT1):c.828G>A (p.Glu276=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705762	NM_030928.4(CDT1):c.832+14G>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694988	NM_030928.4(CDT1):c.372G>A (p.Ala124=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693326	NM_030928.4(CDT1):c.1163C>A (p.Ala388Glu)	CDT1 (A388E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691323	NM_030928.4(CDT1):c.1635G>A (p.Gly545=)	CDT1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 2647011	NM_030928.4(CDT1):c.1560C>T (p.Tyr520=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647010	NM_030928.4(CDT1):c.861G>A (p.Thr287=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647009	NM_030928.4(CDT1):c.499G>A (p.Ala167Thr)	CDT1 (A167T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2598770	NM_030928.4(CDT1):c.1153C>T (p.Arg385Cys)	CDT1 (R385C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588346	NM_030928.4(CDT1):c.1024G>A (p.Asp342Asn)	CDT1 (D342N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551637	NM_030928.4(CDT1):c.1510G>A (p.Glu504Lys)	CDT1 (E504K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550527	NM_030928.4(CDT1):c.254C>T (p.Ala85Val)	CDT1 (A85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534111	NM_030928.4(CDT1):c.904C>G (p.Leu302Val)	CDT1 (L302V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530604	NM_030928.4(CDT1):c.1376G>C (p.Arg459Pro)	CDT1 (R459P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503832	NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)	CDT1 (A56fs)	Indel (frameshift variant)	Meier-Gorlin syndrome 4	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2490543	NM_030928.4(CDT1):c.1375C>T (p.Arg459Cys)	CDT1 (R459C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487390	NM_030928.4(CDT1):c.371C>A (p.Ala124Glu)	CDT1 (A124E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484867	NM_030928.4(CDT1):c.1340G>A (p.Arg447Gln)	CDT1 (R447Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482496	NM_030928.4(CDT1):c.1465A>G (p.Ile489Val)	CDT1 (I489V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2479018	NM_030928.4(CDT1):c.1133C>G (p.Ala378Gly)	CDT1 (A378G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445490	NC_000016.9:g.(?_88870240)_(88878307_?)del	APRT, CDT1	Deletion	not provided	GPathogenic
Select item 2439891	NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)	CDT1 (D87G)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GUncertain significance

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