ClinVar for Gene (Select 54345) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248317	NC_000020.10:g.(?_61990880)_(62680869_?)del	CHRNA4, DNAJC5 +23 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3237434	NM_018419.3(SOX18):c.166C>T (p.Arg56Cys)	LOC130066420, SOX18 (R56C)	Single nucleotide variant (missense variant)	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +1 more	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3167754	NM_018419.3(SOX18):c.964G>T (p.Val322Leu)	SOX18 (V322L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167752	NM_018419.3(SOX18):c.541C>G (p.Gln181Glu)	SOX18 (Q181E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167751	NM_018419.3(SOX18):c.351G>C (p.Lys117Asn)	SOX18 (K117N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167749	NM_018419.3(SOX18):c.224G>C (p.Gly75Ala)	SOX18 (G75A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167748	NM_018419.3(SOX18):c.197G>C (p.Arg66Pro)	SOX18 (R66P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167747	NM_018419.3(SOX18):c.17C>T (p.Pro6Leu)	SOX18 (P6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167746	NM_018419.3(SOX18):c.142C>T (p.Pro48Ser)	LOC130066420, SOX18 (P48S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167745	NM_018419.3(SOX18):c.1115C>T (p.Ala372Val)	SOX18 (A372V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037049	NM_018419.3(SOX18):c.858C>T (p.Thr286=)	SOX18	Single nucleotide variant (synonymous variant)	SOX18-related disorder	GLikely benign
Select item 3036687	NM_018419.3(SOX18):c.894G>A (p.Ser298=)	SOX18	Single nucleotide variant (synonymous variant)	SOX18-related disorder	GLikely benign
Select item 3007794	NM_018419.3(SOX18):c.797T>G (p.Leu266Arg)	SOX18 (L266R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004004	NM_018419.3(SOX18):c.1034A>G (p.Tyr345Cys)	SOX18 (Y345C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990012	NM_018419.3(SOX18):c.666C>T (p.Gly222=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985402	NM_018419.3(SOX18):c.687C>T (p.Ala229=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964043	NM_018419.3(SOX18):c.857C>T (p.Thr286Ile)	SOX18 (T286I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962648	NM_018419.3(SOX18):c.358+18G>A	SOX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961383	NM_018419.3(SOX18):c.975C>T (p.Thr325=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957853	NM_018419.3(SOX18):c.39C>T (p.Asp13=)	SOX18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2956299	NM_018419.3(SOX18):c.132G>C (p.Ala44=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902243	NM_018419.3(SOX18):c.134C>T (p.Pro45Leu)	SOX18 (P45L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882296	NM_018419.3(SOX18):c.822C>G (p.Pro274=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872704	NM_018419.3(SOX18):c.696A>T (p.Pro232=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865443	NM_018419.3(SOX18):c.220C>T (p.Arg74Cys)	SOX18 (R74C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848825	NM_018419.3(SOX18):c.940C>A (p.Pro314Thr)	SOX18 (P314T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795521	NM_018419.3(SOX18):c.1037A>T (p.His346Leu)	SOX18 (H346L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777606	NM_018419.3(SOX18):c.709C>A (p.Pro237Thr)	SOX18 (P237T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766201	NM_018419.3(SOX18):c.519G>C (p.Leu173=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743266	NM_018419.3(SOX18):c.1010G>A (p.Arg337Gln)	SOX18 (R337Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743162	NM_018419.3(SOX18):c.553G>C (p.Glu185Gln)	SOX18 (E185Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2739290	NM_018419.3(SOX18):c.37G>A (p.Asp13Asn)	SOX18 (D13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717467	NM_018419.3(SOX18):c.167G>T (p.Arg56Leu)	LOC130066420, SOX18 (R56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695536	NM_018419.3(SOX18):c.1124C>G (p.Ala375Gly)	SOX18 (A375G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2652566	NM_018419.3(SOX18):c.703G>A (p.Ala235Thr)	SOX18 (A235T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652565	NM_018419.3(SOX18):c.819G>A (p.Ala273=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623494	NM_018419.3(SOX18):c.208A>G (p.Ser70Gly)	SOX18 (S70G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612253	NM_018419.3(SOX18):c.5A>G (p.Gln2Arg)	LOC108281116, SOX18 (Q2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609961	NM_018419.3(SOX18):c.748G>A (p.Ala250Thr)	SOX18 (A250T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608066	NM_018419.3(SOX18):c.1043C>T (p.Ala348Val)	SOX18 (A348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2542382	NM_018419.3(SOX18):c.392A>G (p.Lys131Arg)	SOX18 (K131R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534626	NM_018419.3(SOX18):c.94A>C (p.Thr32Pro)	SOX18 (T32P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534625	NM_018419.3(SOX18):c.93C>G (p.Asp31Glu)	SOX18 (D31E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534624	NM_018419.3(SOX18):c.164A>C (p.Gln55Pro)	LOC130066420, SOX18 (Q55P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534623	NM_018419.3(SOX18):c.155C>G (p.Pro52Arg)	LOC130066420, SOX18 (P52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534622	NM_018419.3(SOX18):c.113G>C (p.Gly38Ala)	SOX18 (G38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534621	NM_018419.3(SOX18):c.106G>C (p.Ala36Pro)	SOX18 (A36P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518167	NM_018419.3(SOX18):c.148T>G (p.Ser50Ala)	LOC130066420, SOX18 (S50A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516120	NM_018419.3(SOX18):c.812G>A (p.Arg271Lys)	SOX18 (R271K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510898	NM_018419.3(SOX18):c.354G>T (p.Met118Ile)	SOX18 (M118I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504729	NM_018419.3(SOX18):c.536C>T (p.Pro179Leu)	SOX18 (P179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493691	NM_018419.3(SOX18):c.682G>A (p.Ala228Thr)	SOX18 (A228T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474772	NM_018419.3(SOX18):c.88G>T (p.Ala30Ser)	SOX18 (A30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425821	NC_000020.10:g.(?_62559699)_(62680869_?)dup	DNAJC5, PRPF6 +4 more	Duplication	not provided	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2420853	NM_018419.3(SOX18):c.877_888del (p.Tyr293_Pro296del)	SOX18	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2418371	NM_018419.3(SOX18):c.870C>T (p.Pro290=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2380634	NM_018419.3(SOX18):c.548C>T (p.Pro183Leu)	SOX18 (P183L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2363553	NM_018419.3(SOX18):c.233A>T (p.Gln78Leu)	SOX18 (Q78L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345177	NM_018419.3(SOX18):c.700C>T (p.Pro234Ser)	SOX18 (P234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322915	NM_018419.3(SOX18):c.605C>G (p.Pro202Arg)	SOX18 (P202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320731	NM_018419.3(SOX18):c.619T>A (p.Phe207Ile)	SOX18 (F207I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304830	NM_018419.3(SOX18):c.41C>T (p.Pro14Leu)	SOX18 (P14L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298310	NM_018419.3(SOX18):c.632G>A (p.Gly211Glu)	SOX18 (G211E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293008	NM_018419.3(SOX18):c.73G>C (p.Gly25Arg)	SOX18 (G25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288092	NM_018419.3(SOX18):c.239C>T (p.Ala80Val)	SOX18 (A80V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288091	NM_018419.3(SOX18):c.238G>C (p.Ala80Pro)	SOX18 (A80P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257542	NM_018419.3(SOX18):c.359G>A (p.Gly120Asp)	SOX18 (G120D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244928	NM_018419.3(SOX18):c.940C>T (p.Pro314Ser)	SOX18 (P314S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231776	NM_018419.3(SOX18):c.664G>C (p.Gly222Arg)	SOX18 (G222R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2209034	NM_018419.3(SOX18):c.77A>C (p.His26Pro)	SOX18 (H26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196021	NM_018419.3(SOX18):c.853G>A (p.Gly285Ser)	SOX18 (G285S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184324	NM_018419.3(SOX18):c.766C>T (p.Arg256Trp)	SOX18 (R256W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2167841	NM_018419.3(SOX18):c.26G>A (p.Gly9Asp)	SOX18 (G9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148873	NM_018419.3(SOX18):c.601C>T (p.Pro201Ser)	SOX18 (P201S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2099617	NM_018419.3(SOX18):c.194G>A (p.Gly65Glu)	SOX18 (G65E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099616	NM_018419.3(SOX18):c.951T>A (p.Asp317Glu)	SOX18 (D317E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099615	NM_018419.3(SOX18):c.970C>A (p.Leu324Ile)	SOX18 (L324I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084193	NM_018419.3(SOX18):c.1048G>A (p.Ala350Thr)	SOX18 (A350T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2076665	NM_018419.3(SOX18):c.112G>T (p.Gly38Cys)	SOX18 (G38C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070559	NM_018419.3(SOX18):c.853G>C (p.Gly285Arg)	SOX18 (G285R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2069138	NM_018419.3(SOX18):c.71C>A (p.Pro24Gln)	SOX18 (P24Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2048222	NM_018419.3(SOX18):c.955T>C (p.Trp319Arg)	SOX18 (W319R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039484	NM_018419.3(SOX18):c.961G>A (p.Asp321Asn)	SOX18 (D321N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003437	NM_018419.3(SOX18):c.530T>G (p.Leu177Ter)	SOX18 (L177*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1993230	NM_018419.3(SOX18):c.477G>C (p.Lys159Asn)	SOX18 (K159N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989158	NM_018419.3(SOX18):c.358+16G>A	SOX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977296	NM_018419.3(SOX18):c.328C>T (p.Leu110=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962849	NM_018419.3(SOX18):c.1065C>A (p.Arg355=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941836	NM_018419.3(SOX18):c.67G>A (p.Ala23Thr)	SOX18 (A23T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922877	NM_018419.3(SOX18):c.1047G>A (p.Leu349=)	SOX18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1714229	NM_018419.3(SOX18):c.80G>A (p.Gly27Glu)	SOX18 (G27E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691340	NM_018419.3(SOX18):c.1105C>G (p.Leu369Val)	SOX18 (L369V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691139	NM_018419.3(SOX18):c.521T>C (p.Leu174Pro)	SOX18 (L174P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic

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