11194[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
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 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +244 more	Copy number loss	See cases	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 57315	GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3	ABHD16B, C20orf181 +63 more	Copy number gain	See cases	GUncertain significance
Select item 147280	GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1	C20orf204, LKAAEAR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 1242190	NM_018419.3(SOX18):c.*127G>A	SOX18	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1247986	NM_018419.3(SOX18):c.*82T>C	SOX18	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 754921	NM_018419.3(SOX18):c.1149C>T (p.Ser383=)	SOX18	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 3167745	NM_018419.3(SOX18):c.1115C>T (p.Ala372Val)	SOX18 (A372V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1962849	NM_018419.3(SOX18):c.1065C>A (p.Arg355=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1922877	NM_018419.3(SOX18):c.1047G>A (p.Leu349=)	SOX18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2795521	NM_018419.3(SOX18):c.1037A>T (p.His346Leu)	SOX18 (H346L)	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 765354	NM_018419.3(SOX18):c.1014C>G (p.Pro338=)	SOX18	Single nucleotide variant (synonymous variant)	Hypotrichosis-lymphedema-telangiectasia syndrome +2 more	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 730441	NM_018419.3(SOX18):c.999C>T (p.Cys333=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1341533	NM_018419.3(SOX18):c.991C>T (p.Leu331Phe)	SOX18 (L331F)	Single nucleotide variant (missense variant)	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	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 2099615	NM_018419.3(SOX18):c.970C>A (p.Leu324Ile)	SOX18 (L324I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2039484	NM_018419.3(SOX18):c.961G>A (p.Asp321Asn)	SOX18 (D321N)	Single nucleotide variant (missense variant)	not provided	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 2099616	NM_018419.3(SOX18):c.951T>A (p.Asp317Glu)	SOX18 (D317E)	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 2244928	NM_018419.3(SOX18):c.940C>T (p.Pro314Ser)	SOX18 (P314S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872265	NM_018419.3(SOX18):c.911C>A (p.Pro304Gln)	SOX18 (P304Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3037049	NM_018419.3(SOX18):c.858C>T (p.Thr286=)	SOX18	Single nucleotide variant (synonymous variant)	SOX18-related disorder	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 2196021	NM_018419.3(SOX18):c.853G>A (p.Gly285Ser)	SOX18 (G285S)	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 797189	NM_018419.3(SOX18):c.844C>T (p.Leu282=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882296	NM_018419.3(SOX18):c.822C>G (p.Pro274=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652565	NM_018419.3(SOX18):c.819G>A (p.Ala273=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 261031	NM_018419.3(SOX18):c.801G>A (p.Ala267=)	SOX18	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 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 591902	NM_018419.3(SOX18):c.765_766delinsTT (p.Arg256Trp)	SOX18 (R256W)	Indel (missense variant)	not provided	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 8002	NM_018419.3(SOX18):c.720C>A (p.Cys240Ter)	SOX18 (C240*)	Single nucleotide variant (nonsense)	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	GPathogenic
Select item 433539	NM_018419.3(SOX18):c.712G>T (p.Glu238Ter)	SOX18 (E238*)	Single nucleotide variant (nonsense)	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	GPathogenic
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 2652566	NM_018419.3(SOX18):c.703G>A (p.Ala235Thr)	SOX18 (A235T)	Single nucleotide variant (missense variant)	not provided	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 2872704	NM_018419.3(SOX18):c.696A>T (p.Pro232=)	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 2493691	NM_018419.3(SOX18):c.682G>A (p.Ala228Thr)	SOX18 (A228T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2298310	NM_018419.3(SOX18):c.632G>A (p.Gly211Glu)	SOX18 (G211E)	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 2322915	NM_018419.3(SOX18):c.605C>G (p.Pro202Arg)	SOX18 (P202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2743162	NM_018419.3(SOX18):c.553G>C (p.Glu185Gln)	SOX18 (E185Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3167752	NM_018419.3(SOX18):c.541C>G (p.Gln181Glu)	SOX18 (Q181E)	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 2003437	NM_018419.3(SOX18):c.530T>G (p.Leu177Ter)	SOX18 (L177*)	Single nucleotide variant (nonsense)	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 2766201	NM_018419.3(SOX18):c.519G>C (p.Leu173=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 842597	NM_018419.3(SOX18):c.505G>T (p.Glu169Ter)	SOX18 (E169*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1184912	NM_018419.3(SOX18):c.483_490del (p.Ala162fs)	SOX18 (A162fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 162093	NM_018419.3(SOX18):c.481C>T (p.Gln161Ter)	SOX18 (Q161*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 709170	NM_018419.3(SOX18):c.409G>A (p.Glu137Lys)	SOX18 (E137K)	Single nucleotide variant (missense variant)	SOX18-related disorder +1 more	GBenign/Likely benign
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 2257542	NM_018419.3(SOX18):c.359G>A (p.Gly120Asp)	SOX18 (G120D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 261030	NM_018419.3(SOX18):c.358+34A>C	SOX18	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2962648	NM_018419.3(SOX18):c.358+18G>A	SOX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989158	NM_018419.3(SOX18):c.358+16G>A	SOX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3167751	NM_018419.3(SOX18):c.351G>C (p.Lys117Asn)	SOX18 (K117N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1977296	NM_018419.3(SOX18):c.328C>T (p.Leu110=)	SOX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8000	NM_018419.3(SOX18):c.310G>C (p.Ala104Pro)	SOX18 (A104P)	Single nucleotide variant (missense variant)	Hypotrichosis-lymphedema-telangiectasia syndrome	GPathogenic
Select item 8001	NM_018419.3(SOX18):c.283T>A (p.Trp95Arg)	SOX18 (W95R)	Single nucleotide variant (missense variant)	Hypotrichosis-lymphedema-telangiectasia syndrome	GPathogenic
Select item 261029	NM_018419.3(SOX18):c.243C>T (p.Asp81=)	SOX18	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 2363553	NM_018419.3(SOX18):c.233A>T (p.Gln78Leu)	SOX18 (Q78L)	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

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