ClinVar for Gene (Select 1173) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 272

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375446	NM_004068.4(AP2M1):c.1094A>G (p.Gln365Arg)	AP2M1 (Q363R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365357	NM_004068.4(AP2M1):c.989C>G (p.Thr330Arg)	AP2M1 (T328R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362496	NM_004068.4(AP2M1):c.178C>T (p.Arg60Trp)	AP2M1 (R60W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 3342868	NM_004068.4(AP2M1):c.1243G>A (p.Asp415Asn)	AP2M1 (D413N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342699	NM_004068.4(AP2M1):c.1064T>A (p.Ile355Asn)	AP2M1 (I353N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336194	NM_004068.4(AP2M1):c.1173+87G>C	AP2M1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3255273	NM_004068.4(AP2M1):c.1173+24G>C	AP2M1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255254	NM_004068.4(AP2M1):c.1173+180G>A	AP2M1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3254703	NM_004068.4(AP2M1):c.97C>T (p.Arg33Trp)	AP2M1 (R33W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 3246994	NC_000003.11:g.(?_183894782)_(183901404_?)dup	AP2M1	Duplication	not provided	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3127503	NM_004068.4(AP2M1):c.1247A>G (p.His416Arg)	AP2M1 (H441R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 3055975	NM_004068.4(AP2M1):c.74+513T>C	AP2M1, LOC123453202 (S38P)	Single nucleotide variant (missense variant +1 more)	AP2M1-related disorder	GBenign
Select item 3024240	NM_004068.4(AP2M1):c.1087G>C (p.Glu363Gln)	AP2M1 (E361Q +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 3022985	NM_004068.4(AP2M1):c.1101C>T (p.Ser367=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016287	NM_004068.4(AP2M1):c.1080C>T (p.Gly360=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010245	NM_004068.4(AP2M1):c.138C>T (p.Pro46=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008309	NM_004068.4(AP2M1):c.847A>G (p.Ile283Val)	AP2M1 (I281V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005672	NM_004068.4(AP2M1):c.565+6G>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3004292	NM_004068.4(AP2M1):c.430-7C>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001374	NM_004068.4(AP2M1):c.424-10C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997248	NM_004068.4(AP2M1):c.906G>A (p.Glu302=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990476	NM_004068.4(AP2M1):c.1062-4C>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985923	NM_004068.4(AP2M1):c.429+6C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2983940	NM_004068.4(AP2M1):c.801G>A (p.Pro267=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972392	NM_004068.4(AP2M1):c.75-18T>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963271	NM_004068.4(AP2M1):c.429+3A>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2963113	NM_004068.4(AP2M1):c.566-15C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912396	NM_004068.4(AP2M1):c.1092G>A (p.Ser364=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909850	NM_004068.4(AP2M1):c.55G>A (p.Val19Ile)	AP2M1, LOC123453202 (V19I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907075	NM_004068.4(AP2M1):c.1191T>G (p.Ser397=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900374	NM_004068.4(AP2M1):c.75-5C>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899706	NM_004068.4(AP2M1):c.75-6C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881754	NM_004068.4(AP2M1):c.1305C>T (p.Cys435=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878305	NM_004068.4(AP2M1):c.1173+9G>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873982	NM_004068.4(AP2M1):c.1224A>G (p.Glu408=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871928	NM_004068.4(AP2M1):c.930C>T (p.Asn310=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869511	NM_004068.4(AP2M1):c.36G>A (p.Gly12=)	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861061	NM_004068.4(AP2M1):c.118C>T (p.Arg40Trp)	AP2M1 (R65W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857686	NM_004068.4(AP2M1):c.961G>A (p.Glu321Lys)	AP2M1 (E319K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853345	NM_004068.4(AP2M1):c.792del (p.Phe265fs)	AP2M1 (F263fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2845730	NM_004068.4(AP2M1):c.394T>A (p.Phe132Ile)	AP2M1 (F157I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844971	NM_004068.4(AP2M1):c.74+7C>T	AP2M1, LOC123453202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825075	NM_004068.4(AP2M1):c.1148G>A (p.Arg383Gln)	AP2M1 (R381Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822611	NM_004068.4(AP2M1):c.286A>G (p.Ile96Val)	AP2M1 (I96V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814851	NM_004068.4(AP2M1):c.751T>G (p.Cys251Gly)	AP2M1 (C251G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808195	NM_004068.4(AP2M1):c.341-16T>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806372	NM_004068.4(AP2M1):c.990A>T (p.Thr330=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799847	NM_004068.4(AP2M1):c.963+18A>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796612	NM_004068.4(AP2M1):c.424-9G>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2792729	NM_004068.4(AP2M1):c.828-11C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783191	NM_004068.4(AP2M1):c.424-20G>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775599	NM_004068.4(AP2M1):c.708-4G>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770953	NM_004068.4(AP2M1):c.281G>T (p.Gly94Val)	AP2M1 (G119V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767442	NM_004068.4(AP2M1):c.972C>T (p.Ile324=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766094	NM_004068.4(AP2M1):c.68A>C (p.Asp23Ala)	AP2M1, LOC123453202 (D23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765691	NM_004068.4(AP2M1):c.707+14_707+15delinsCT	AP2M1	Indel (intron variant)	not provided	GUncertain significance
Select item 2763782	NM_004068.4(AP2M1):c.264G>T (p.Val88=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760209	NM_004068.4(AP2M1):c.290G>A (p.Ser97Asn)	AP2M1 (S97N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757244	NM_004068.4(AP2M1):c.565+5G>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2756403	NM_004068.4(AP2M1):c.198A>G (p.Ala66=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750411	NM_004068.4(AP2M1):c.566-4C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740680	NM_004068.4(AP2M1):c.105T>C (p.Asn35=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718785	NM_004068.4(AP2M1):c.579T>C (p.Ser193=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718695	NM_004068.4(AP2M1):c.354T>C (p.Phe118=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714255	NM_004068.4(AP2M1):c.26del (p.Asn9fs)	AP2M1, LOC123453202 (N9fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2710831	NM_004068.4(AP2M1):c.964-8A>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710204	NM_004068.4(AP2M1):c.565+19C>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707129	NM_004068.4(AP2M1):c.423+12G>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654309	NM_004068.4(AP2M1):c.1054G>A (p.Val352Met)	AP2M1 (V350M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2654308	NM_004068.4(AP2M1):c.-3G>A	LOC123453202, AP2M1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2578956	NM_004068.4(AP2M1):c.963+8C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2578955	NM_004068.4(AP2M1):c.75-643G>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578954	NM_004068.4(AP2M1):c.74+485G>T	AP2M1, LOC123453202 (Q28H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2498945	NM_004068.4(AP2M1):c.74+509T>C	AP2M1, LOC123453202	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2439134	NM_004068.4(AP2M1):c.916G>A (p.Val306Ile)	AP2M1 (V304I +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures	GUncertain significance
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	CAMK2N2, CLCN2 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2425112	NC_000003.11:g.(?_183368145)_(184094097_?)del	ABCC5, ABCF3 +21 more	Deletion	not provided	GUncertain significance
Select item 2425015	NC_000003.11:g.(?_183894782)_(183901404_?)del	AP2M1	Deletion	not provided	GUncertain significance
Select item 2191648	NM_004068.4(AP2M1):c.1032C>T (p.Tyr344=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173889	NM_004068.4(AP2M1):c.144C>T (p.Thr48=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171459	NM_004068.4(AP2M1):c.341-8T>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129752	NM_004068.4(AP2M1):c.801G>T (p.Pro267=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124233	NM_004068.4(AP2M1):c.429+13C>G	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122246	NM_004068.4(AP2M1):c.423+20T>C	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117297	NM_004068.4(AP2M1):c.827+12G>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2114916	NM_004068.4(AP2M1):c.1218G>A (p.Val406=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114744	NM_004068.4(AP2M1):c.1174-10C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112211	NM_004068.4(AP2M1):c.430-14C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105566	NM_004068.4(AP2M1):c.565+16C>A	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087380	NM_004068.4(AP2M1):c.595C>T (p.Arg199Trp)	AP2M1 (R199W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2086860	NM_004068.4(AP2M1):c.1251T>C (p.Asp417=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084956	NM_004068.4(AP2M1):c.75-7C>T	AP2M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077017	NM_004068.4(AP2M1):c.216T>C (p.Asn72=)	AP2M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062387	NM_004068.4(AP2M1):c.461A>G (p.Gln154Arg)	AP2M1 (Q152R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3