28666[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 148465	GRCh38/hg38 3q12.1(chr3:99755242-100236704)x1	CMSS1, COL8A1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 150224	GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1	CMSS1, COL8A1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 2304143	NM_032359.4(CMSS1):c.22G>C (p.Glu8Gln)	CMSS1, HP09053 +1 more (E8Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3146252	NM_032359.4(CMSS1):c.47G>A (p.Gly16Glu)	CMSS1, HP09053 +1 more (G16E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3053255	NM_001387850.1(FILIP1L):c.3382-2628C>T	CMSS1, FILIP1L +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	FILIP1L-related disorder	GLikely benign
Select item 3278896	NM_001387850.1(FILIP1L):c.3365G>A (p.Arg1122Gln)	CMSS1, FILIP1L +1 more (R882Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057961	NM_001387850.1(FILIP1L):c.3283T>C (p.Leu1095=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GLikely benign
Select item 3045603	NM_001387850.1(FILIP1L):c.3245G>A (p.Ser1082Asn)	CMSS1, FILIP1L +1 more (S1082N +2 more)	Single nucleotide variant (missense variant +1 more)	FILIP1L-related disorder	GBenign
Select item 3095250	NM_001387850.1(FILIP1L):c.3211A>T (p.Met1071Leu)	CMSS1, FILIP1L +1 more (M647L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095249	NM_001387850.1(FILIP1L):c.3137G>A (p.Arg1046His)	CMSS1, FILIP1L +1 more (R622H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511001	NM_001387850.1(FILIP1L):c.3124T>C (p.Trp1042Arg)	CMSS1, FILIP1L +1 more (W1042R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487953	NM_001387850.1(FILIP1L):c.3118T>G (p.Ser1040Ala)	CMSS1, FILIP1L +1 more (S1040A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095248	NM_001387850.1(FILIP1L):c.2939C>G (p.Thr980Ser)	CMSS1, FILIP1L +1 more (T556S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483640	NM_001387850.1(FILIP1L):c.2921C>T (p.Ser974Phe)	CMSS1, FILIP1L +1 more (S550F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454671	NM_001387850.1(FILIP1L):c.2914G>A (p.Gly972Ser)	CMSS1, FILIP1L +1 more (G732S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322219	NM_001387850.1(FILIP1L):c.2909A>G (p.Glu970Gly)	CMSS1, FILIP1L +1 more (E970G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316326	NM_001387850.1(FILIP1L):c.2900T>C (p.Met967Thr)	CMSS1, FILIP1L +1 more (M543T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269143	NM_001387850.1(FILIP1L):c.2899A>C (p.Met967Leu)	CMSS1, FILIP1L +1 more (M543L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095247	NM_001387850.1(FILIP1L):c.2869G>T (p.Val957Leu)	CMSS1, FILIP1L +1 more (V533L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559307	NM_001387850.1(FILIP1L):c.2834G>A (p.Arg945Lys)	CMSS1, FILIP1L +1 more (R521K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095246	NM_001387850.1(FILIP1L):c.2822C>T (p.Thr941Met)	CMSS1, FILIP1L +1 more (T517M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050131	NM_001387850.1(FILIP1L):c.2811G>C (p.Pro937=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GLikely benign
Select item 3053214	NM_001387850.1(FILIP1L):c.2796T>C (p.Ser932=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GLikely benign
Select item 2375486	NM_001387850.1(FILIP1L):c.2716G>T (p.Val906Phe)	CMSS1, FILIP1L +1 more (V482F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458462	NM_001387850.1(FILIP1L):c.2693C>G (p.Pro898Arg)	CMSS1, FILIP1L +1 more (P474R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458461	NM_001387850.1(FILIP1L):c.2692C>T (p.Pro898Ser)	CMSS1, FILIP1L +1 more (P474S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095245	NM_001387850.1(FILIP1L):c.2660T>C (p.Val887Ala)	CMSS1, FILIP1L +1 more (V887A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613906	NM_001387850.1(FILIP1L):c.2602T>G (p.Ser868Ala)	CMSS1, FILIP1L +1 more (S628A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346137	NM_001387850.1(FILIP1L):c.2566C>T (p.Pro856Ser)	CMSS1, FILIP1L +1 more (P616S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355995	NM_001387850.1(FILIP1L):c.2512C>A (p.Pro838Thr)	CMSS1, FILIP1L +1 more (P414T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052659	NM_001387850.1(FILIP1L):c.2511C>T (p.Asp837=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GLikely benign
Select item 3095242	NM_001387850.1(FILIP1L):c.2506G>A (p.Glu836Lys)	CMSS1, FILIP1L +1 more (E836K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095241	NM_001387850.1(FILIP1L):c.2458C>T (p.Arg820Cys)	CMSS1, FILIP1L +1 more (R396C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351990	NM_001387850.1(FILIP1L):c.2446A>G (p.Ile816Val)	CMSS1, FILIP1L +1 more (I576V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486270	NM_001387850.1(FILIP1L):c.2420A>G (p.Asn807Ser)	CMSS1, FILIP1L +1 more (N807S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045387	NM_001387850.1(FILIP1L):c.2373C>T (p.Ser791=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GBenign
Select item 2299133	NM_001387850.1(FILIP1L):c.2324G>T (p.Arg775Leu)	CMSS1, FILIP1L +1 more (R351L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095240	NM_001387850.1(FILIP1L):c.2291T>C (p.Ile764Thr)	CMSS1, FILIP1L +1 more (I764T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549980	NM_001387850.1(FILIP1L):c.2290A>G (p.Ile764Val)	CMSS1, FILIP1L +1 more (I340V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275272	NM_001387850.1(FILIP1L):c.2287G>C (p.Glu763Gln)	CMSS1, FILIP1L +1 more (E339Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287703	NM_001387850.1(FILIP1L):c.2281G>C (p.Gly761Arg)	CMSS1, FILIP1L +1 more (G521R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053506	NM_001387850.1(FILIP1L):c.2235C>T (p.Val745=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GBenign
Select item 3278897	NM_001387850.1(FILIP1L):c.2225A>T (p.Asp742Val)	CMSS1, FILIP1L +1 more (D502V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301841	NM_001387850.1(FILIP1L):c.2189T>G (p.Met730Arg)	CMSS1, FILIP1L +1 more (M730R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359171	NM_001387850.1(FILIP1L):c.2188A>T (p.Met730Leu)	CMSS1, FILIP1L +1 more (M306L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299089	NM_001387850.1(FILIP1L):c.2158G>A (p.Asp720Asn)	CMSS1, FILIP1L +1 more (D296N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365557	NM_001387850.1(FILIP1L):c.2126A>C (p.Glu709Ala)	CMSS1, FILIP1L +1 more (E709A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247106	NM_001387850.1(FILIP1L):c.2125G>A (p.Glu709Lys)	CMSS1, FILIP1L +1 more (E285K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046263	NM_001387850.1(FILIP1L):c.2083A>G (p.Thr695Ala)	CMSS1, FILIP1L +1 more (T271A +2 more)	Single nucleotide variant (missense variant +1 more)	FILIP1L-related disorder	GBenign
Select item 3278900	NM_001387850.1(FILIP1L):c.2050C>G (p.Leu684Val)	CMSS1, FILIP1L +1 more (L444V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226663	NM_001387850.1(FILIP1L):c.2045T>C (p.Met682Thr)	CMSS1, FILIP1L +1 more (M442T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095239	NM_001387850.1(FILIP1L):c.2032G>C (p.Glu678Gln)	CMSS1, FILIP1L +1 more (E438Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299177	NM_001387850.1(FILIP1L):c.1963G>A (p.Glu655Lys)	CMSS1, FILIP1L +1 more (E415K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589986	NM_001387850.1(FILIP1L):c.1955C>T (p.Thr652Ile)	CMSS1, FILIP1L +1 more (T412I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278893	NM_001387850.1(FILIP1L):c.1934T>C (p.Ile645Thr)	CMSS1, FILIP1L +1 more (I221T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246430	NM_001387850.1(FILIP1L):c.1868A>G (p.Asn623Ser)	CMSS1, FILIP1L +1 more (N199S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335154	NM_001387850.1(FILIP1L):c.1850C>T (p.Ala617Val)	CMSS1, FILIP1L +1 more (A377V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095238	NM_001387850.1(FILIP1L):c.1849G>C (p.Ala617Pro)	CMSS1, FILIP1L +1 more (A617P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033680	NM_001387850.1(FILIP1L):c.1783T>C (p.Leu595=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GBenign
Select item 2598771	NM_001387850.1(FILIP1L):c.1741C>T (p.Leu581Phe)	CMSS1, FILIP1L +1 more (L157F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095237	NM_001387850.1(FILIP1L):c.1739A>T (p.Asp580Val)	CMSS1, FILIP1L +1 more (D580V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095236	NM_001387850.1(FILIP1L):c.1729A>C (p.Lys577Gln)	CMSS1, FILIP1L +1 more (K337Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600540	NM_001387850.1(FILIP1L):c.1682C>T (p.Thr561Ile)	CMSS1, FILIP1L +1 more (T561I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589389	NM_001387850.1(FILIP1L):c.1657G>A (p.Val553Ile)	CMSS1, FILIP1L +1 more (V313I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528252	NM_001387850.1(FILIP1L):c.1637C>T (p.Ala546Val)	CMSS1, FILIP1L +1 more (A546V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406834	NM_001387850.1(FILIP1L):c.1577A>G (p.Gln526Arg)	CMSS1, FILIP1L +1 more (Q102R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473363	NM_001387850.1(FILIP1L):c.1510C>T (p.Arg504Trp)	CMSS1, FILIP1L +1 more (R264W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095235	NM_001387850.1(FILIP1L):c.1501G>A (p.Val501Ile)	CMSS1, FILIP1L +1 more (V77I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489975	NM_001387850.1(FILIP1L):c.1484C>T (p.Thr495Ile)	CMSS1, FILIP1L +1 more (T255I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278902	NM_001387850.1(FILIP1L):c.1439A>G (p.Glu480Gly)	CMSS1, FILIP1L +1 more (E240G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207085	NM_001387850.1(FILIP1L):c.1433G>A (p.Arg478Gln)	CMSS1, FILIP1L +1 more (R238Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311230	NM_001387850.1(FILIP1L):c.1413G>T (p.Glu471Asp)	CMSS1, FILIP1L +1 more (E47D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052459	NM_001387850.1(FILIP1L):c.1332G>A (p.Leu444=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GBenign
Select item 3278899	NM_001387850.1(FILIP1L):c.1293A>C (p.Glu431Asp)	CMSS1, FILIP1L +1 more (E191D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369918	NM_001387850.1(FILIP1L):c.1246G>C (p.Glu416Gln)	CMSS1, FILIP1L +1 more (E176Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045633	NM_001387850.1(FILIP1L):c.1221G>A (p.Thr407=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GLikely benign
Select item 2207298	NM_001387850.1(FILIP1L):c.1220C>T (p.Thr407Met)	CMSS1, FILIP1L +1 more (T167M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205041	NM_001387850.1(FILIP1L):c.1175T>C (p.Met392Thr)	LOC105374010, CMSS1 +1 more (M392T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039661	NM_001387850.1(FILIP1L):c.1047G>A (p.Glu349=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GLikely benign
Select item 2235773	NM_001387850.1(FILIP1L):c.995G>A (p.Arg332Gln)	CMSS1, FILIP1L +1 more (R332Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518091	NM_001387850.1(FILIP1L):c.994C>T (p.Arg332Trp)	CMSS1, FILIP1L +1 more (R92W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278892	NM_001387850.1(FILIP1L):c.962G>A (p.Arg321His)	CMSS1, FILIP1L +1 more (R81H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278901	NM_001387850.1(FILIP1L):c.941C>T (p.Thr314Ile)	CMSS1, FILIP1L +1 more (T74I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278895	NM_001387850.1(FILIP1L):c.932C>T (p.Ala311Val)	CMSS1, FILIP1L +1 more (A311V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341779	NM_001387850.1(FILIP1L):c.921C>A (p.Asp307Glu)	CMSS1, FILIP1L +1 more (D307E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2365794	NM_001387850.1(FILIP1L):c.902A>T (p.Lys301Met)	CMSS1, FILIP1L +1 more (K301M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095255	NM_001387850.1(FILIP1L):c.853G>A (p.Glu285Lys)	CMSS1, FILIP1L +1 more (E45K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038733	NM_001387850.1(FILIP1L):c.750G>A (p.Thr250=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GLikely benign
Select item 3095254	NM_001387850.1(FILIP1L):c.673G>A (p.Val225Ile)	CMSS1, FILIP1L +1 more (V225I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3039184	NM_001387850.1(FILIP1L):c.640C>G (p.Gln214Glu)	CMSS1, FILIP1L +1 more (Q214E)	Single nucleotide variant (missense variant +2 more)	FILIP1L-related disorder	GBenign
Select item 2348314	NM_001387850.1(FILIP1L):c.601G>C (p.Glu201Gln)	CMSS1, FILIP1L +1 more (E201Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095253	NM_001387850.1(FILIP1L):c.547A>G (p.Lys183Glu)	CMSS1, FILIP1L +1 more (K183E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458676	NM_001387850.1(FILIP1L):c.545A>T (p.His182Leu)	CMSS1, FILIP1L +1 more (H182L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359628	NM_001387850.1(FILIP1L):c.545A>G (p.His182Arg)	CMSS1, FILIP1L +1 more (H182R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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