ClinVar for Gene (Select 84319) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3278898	NM_001387850.1(FILIP1L):c.12A>T (p.Arg4Ser)	CMSS1, FILIP1L +1 more (R4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 3267990	NM_032359.4(CMSS1):c.406C>A (p.Leu136Ile)	CMSS1 (L118I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267989	NM_032359.4(CMSS1):c.305A>G (p.Tyr102Cys)	CMSS1 (Y102C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	ABI3BP, ADGRG7 +16 more	Deletion	not provided	GUncertain significance
Select item 3146255	NM_032359.4(CMSS1):c.799A>C (p.Ser267Arg)	CMSS1 (S249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146254	NM_032359.4(CMSS1):c.684C>A (p.Ser228Arg)	CMSS1 (S210R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146253	NM_032359.4(CMSS1):c.610C>T (p.Arg204Cys)	CMSS1 (R186C +1 more)	Single nucleotide variant (missense variant)	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 3146251	NM_032359.4(CMSS1):c.256G>C (p.Glu86Gln)	CMSS1 (E86Q +1 more)	Single nucleotide variant (missense variant)	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 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 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 3095252	NM_001387850.1(FILIP1L):c.493G>C (p.Glu165Gln)	CMSS1, FILIP1L +1 more (E165Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095251	NM_001387850.1(FILIP1L):c.359A>T (p.Gln120Leu)	CMSS1, FILIP1L +1 more (Q120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 3095244	NM_001387850.1(FILIP1L):c.25G>A (p.Glu9Lys)	CMSS1, FILIP1L +1 more (E9K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3059252	NM_001387850.1(FILIP1L):c.503G>A (p.Arg168His)	CMSS1, FILIP1L +1 more (R168H)	Single nucleotide variant (missense variant +1 more)	FILIP1L-related disorder	GBenign
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 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 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 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 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 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 3050264	NM_001387850.1(FILIP1L):c.504T>C (p.Arg168=)	CMSS1, FILIP1L +1 more	Single nucleotide variant (synonymous variant +1 more)	FILIP1L-related disorder	GLikely benign
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 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 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 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 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 3043148	NM_032359.4(CMSS1):c.64+106369C>T	CMSS1, FILIP1L +1 more	Single nucleotide variant (intron variant)	CMSS1-related disorder	GBenign
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 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 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 3033890	NM_001387850.1(FILIP1L):c.427-5C>T	CMSS1, FILIP1L +1 more	Single nucleotide variant (intron variant)	FILIP1L-related disorder	GLikely benign
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 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 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 2599806	NM_032359.4(CMSS1):c.104T>A (p.Met35Lys)	CMSS1 (M17K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 2544595	NM_032359.4(CMSS1):c.412G>C (p.Glu138Gln)	CMSS1 (E120Q +1 more)	Single nucleotide variant (missense variant)	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 2518758	NM_032359.4(CMSS1):c.623T>G (p.Leu208Arg)	CMSS1 (L208R +1 more)	Single nucleotide variant (missense variant)	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 2516809	NM_032359.4(CMSS1):c.319C>T (p.Arg107Cys)	CMSS1 (R107C +1 more)	Single nucleotide variant (missense variant)	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 2494491	NM_001387850.1(FILIP1L):c.343G>A (p.Val115Met)	CMSS1, FILIP1L +1 more (V115M)	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 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 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 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 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 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 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 2457696	NM_001387850.1(FILIP1L):c.136G>T (p.Val46Leu)	CMSS1, FILIP1L +1 more (V46L)	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 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 2401094	NM_001387850.1(FILIP1L):c.377C>T (p.Ala126Val)	CMSS1, FILIP1L +1 more (A126V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389392	NM_001387850.1(FILIP1L):c.90C>G (p.Asn30Lys)	CMSS1, FILIP1L +1 more (N30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384508	NM_032359.4(CMSS1):c.252A>T (p.Lys84Asn)	CMSS1 (K66N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383619	NM_001387850.1(FILIP1L):c.257G>A (p.Arg86Gln)	CMSS1, FILIP1L +1 more (R86Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 2365181	NM_032359.4(CMSS1):c.748A>C (p.Ile250Leu)	CMSS1 (I232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363269	NM_001387850.1(FILIP1L):c.5G>A (p.Arg2His)	CMSS1, FILIP1L +1 more (R2H)	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
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 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 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 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

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