ClinVar for Gene (Select 5195) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	KCNAB2, KIF1B +76 more	Deletion	not provided	GUncertain significance
Select item 3247784	NC_000001.10:g.(?_10596250)_(10596374_?)del	PEX14	Deletion	Peroxisome biogenesis disorder, complementation group K	GPathogenic
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3211503	NM_004565.3(PEX14):c.449C>T (p.Ala150Val)	PEX14 (A150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063344	GRCh37/hg19 1p36.22(chr1:10496415-10632298)x1	CENPS, CENPS-CORT +3 more	Copy number loss	not specified	GUncertain significance
Select item 3057735	NM_004565.3(PEX14):c.169+5A>G	PEX14	Single nucleotide variant (intron variant)	PEX14-related disorder	GLikely benign
Select item 3049425	NM_004565.3(PEX14):c.-10C>T	PEX14	Single nucleotide variant (5 prime UTR variant)	PEX14-related disorder	GLikely benign
Select item 3044851	NM_004565.3(PEX14):c.987G>A (p.Glu329=)	PEX14	Single nucleotide variant (synonymous variant)	PEX14-related disorder	GLikely benign
Select item 3030907	NM_004565.3(PEX14):c.678-4C>G	PEX14	Single nucleotide variant (intron variant)	PEX14-related disorder	GLikely benign
Select item 3029435	NM_004565.3(PEX14):c.-9C>T	PEX14	Single nucleotide variant (5 prime UTR variant)	PEX14-related disorder	GLikely benign
Select item 3023746	NM_004565.3(PEX14):c.642C>G (p.Ser214=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 3012827	NM_004565.3(PEX14):c.306A>G (p.Ala102=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 3003520	NM_004565.3(PEX14):c.384+15G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 3001707	NM_004565.3(PEX14):c.36+14G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2998899	NM_004565.3(PEX14):c.81G>T (p.Pro27=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2998085	NM_004565.3(PEX14):c.882C>A (p.Gly294=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2981692	NM_004565.3(PEX14):c.299-7C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2972765	NM_004565.3(PEX14):c.169+12dup	PEX14	Duplication (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2968168	NM_004565.3(PEX14):c.63T>C (p.Asn21=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2967272	NM_004565.3(PEX14):c.298+1G>C	PEX14	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder, complementation group K	GLikely pathogenic
Select item 2916748	NM_004565.3(PEX14):c.882C>T (p.Gly294=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2893748	NM_004565.3(PEX14):c.450C>G (p.Ala150=)	PEX14	Single nucleotide variant (synonymous variant)	PEX14-related disorder +1 more	GLikely benign
Select item 2881823	NM_004565.3(PEX14):c.678-6C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2862707	NM_004565.3(PEX14):c.670T>C (p.Leu224=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2853881	NM_004565.3(PEX14):c.487+12T>C	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2848177	NM_004565.3(PEX14):c.385-20C>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2840549	NM_004565.3(PEX14):c.1068G>A (p.Gln356=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2836685	NM_004565.3(PEX14):c.15G>A (p.Glu5=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2821741	NM_004565.3(PEX14):c.37-9T>C	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2817075	NM_004565.3(PEX14):c.84+9C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2814902	NM_004565.3(PEX14):c.87T>C (p.Ile29=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2804646	NM_004565.3(PEX14):c.488-15G>A	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2799815	NM_004565.3(PEX14):c.129G>A (p.Gln43=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2790001	NM_004565.3(PEX14):c.753C>T (p.Ser251=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2782062	NM_004565.3(PEX14):c.36+9A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2772538	NM_004565.3(PEX14):c.678-12T>C	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2769432	NM_004565.3(PEX14):c.299-5_306del	PEX14	Deletion (splice acceptor variant)	Peroxisome biogenesis disorder, complementation group K	GLikely pathogenic
Select item 2753909	NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)	PEX14 (Q37*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder, complementation group K	GPathogenic
Select item 2749271	NM_004565.3(PEX14):c.384+7C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2749269	NM_004565.3(PEX14):c.345C>A (p.Ile115=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2737503	NM_004565.3(PEX14):c.639G>A (p.Lys213=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2734367	NM_004565.3(PEX14):c.385-18C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2722494	NM_004565.3(PEX14):c.957G>A (p.Lys319=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2712121	NM_004565.3(PEX14):c.585+11C>T	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2709504	NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT	PEX14	Indel (splice donor variant)	Peroxisome biogenesis disorder, complementation group K	GLikely pathogenic
Select item 2701667	NM_004565.3(PEX14):c.150A>G (p.Arg50=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2597415	NM_004565.3(PEX14):c.904G>A (p.Val302Met)	PEX14 (V302M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534431	NM_004565.3(PEX14):c.996T>G (p.Asp332Glu)	PEX14 (D332E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534429	NM_004565.3(PEX14):c.1007A>G (p.His336Arg)	PEX14 (H336R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2511479	NM_004565.3(PEX14):c.209C>T (p.Ser70Leu)	PEX14 (S70L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491482	NM_004565.3(PEX14):c.1118A>C (p.Glu373Ala)	PEX14 (E373A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	CENPS, CENPS-CORT +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425278	NC_000001.10:g.(?_9770514)_(11264780_?)del	ANGPTL7, C1orf127 +20 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 2425168	NC_000001.10:g.(?_10535024)_(11107264_?)dup	C1orf127, CASZ1 +3 more	Duplication	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2425167	NC_000001.10:g.(?_10555311)_(10555398_?)dup	PEX14	Duplication	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2425166	NC_000001.10:g.(?_10535024)_(10535079_?)dup	PEX14	Duplication	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2425165	NC_000001.10:g.(?_10535024)_(10687440_?)del	PEX14	Deletion	Peroxisome biogenesis disorder, complementation group K	GPathogenic
Select item 2425164	NC_000001.10:g.(?_10687309)_(10687440_?)del	PEX14	Deletion	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2425163	NC_000001.10:g.(?_10535024)_(10535079_?)del	PEX14	Deletion	Peroxisome biogenesis disorder, complementation group K	GPathogenic
Select item 2420835	NM_004565.3(PEX14):c.36+15A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2413404	NM_004565.3(PEX14):c.16C>G (p.Gln6Glu)	PEX14 (Q6E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2410330	NM_004565.3(PEX14):c.743C>T (p.Pro248Leu)	PEX14 (P248L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251285	NM_004565.3(PEX14):c.205C>A (p.Gln69Lys)	PEX14 (Q69K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202049	NM_004565.3(PEX14):c.487+17C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2200335	NM_004565.3(PEX14):c.36+18G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2195934	NM_004565.3(PEX14):c.699A>G (p.Pro233=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2190849	NM_004565.3(PEX14):c.1051C>T (p.Arg351Trp)	PEX14 (R351W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2188420	NM_004565.3(PEX14):c.1089G>A (p.Lys363=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2183876	NM_004565.3(PEX14):c.169+4C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2182939	NM_004565.3(PEX14):c.384+20T>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2180396	NM_004565.3(PEX14):c.259G>A (p.Val87Ile)	PEX14 (V87I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2170629	NM_004565.3(PEX14):c.385-11G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2164696	NM_004565.3(PEX14):c.1036C>A (p.Gln346Lys)	PEX14 (Q346K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2160916	NM_004565.3(PEX14):c.586-15G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2157279	NM_004565.3(PEX14):c.133C>T (p.Pro45Ser)	PEX14 (P45S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2156385	NM_004565.3(PEX14):c.678-18C>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2154431	NM_004565.3(PEX14):c.918G>A (p.Lys306=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2154265	NM_004565.3(PEX14):c.631G>C (p.Glu211Gln)	PEX14 (E211Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2145616	NM_004565.3(PEX14):c.70C>T (p.Pro24Ser)	PEX14 (P24S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2139848	NM_004565.3(PEX14):c.385-12C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2139173	NM_004565.3(PEX14):c.356T>C (p.Ile119Thr)	PEX14 (I119T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2135498	NM_004565.3(PEX14):c.85-5A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2132235	NM_004565.3(PEX14):c.252A>T (p.Thr84=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2130782	NM_004565.3(PEX14):c.697C>G (p.Pro233Ala)	PEX14 (P233A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2125983	NM_004565.3(PEX14):c.904G>C (p.Val302Leu)	PEX14 (V302L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2121497	NM_004565.3(PEX14):c.37-20del	PEX14	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2117173	NM_004565.3(PEX14):c.37-16C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2116151	NM_004565.3(PEX14):c.245C>T (p.Pro82Leu)	PEX14 (P82L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2115895	NM_004565.3(PEX14):c.74G>A (p.Arg25Gln)	PEX14 (R25Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2114956	NM_004565.3(PEX14):c.447G>A (p.Glu149=)	PEX14	Single nucleotide variant (synonymous variant)	PEX14-related disorder +1 more	GLikely benign
Select item 2114839	NM_004565.3(PEX14):c.298+13C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2114419	NM_004565.3(PEX14):c.1020G>A (p.Glu340=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2114319	NM_004565.3(PEX14):c.856T>C (p.Ser286Pro)	PEX14 (S286P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2111995	NM_004565.3(PEX14):c.709A>G (p.Lys237Glu)	PEX14 (K237E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2111819	NM_004565.3(PEX14):c.585+19C>T	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2109141	NM_004565.3(PEX14):c.480C>T (p.Ala160=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2102714	NM_004565.3(PEX14):c.677+13A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign

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