FCHO1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2035885	NM_015122.3(FCHO1):c.6G>T (p.Ser2=)	FCHO1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1164702	NM_015122.3(FCHO1):c.15G>C (p.Gly5=)	FCHO1	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 996543	NM_015122.3(FCHO1):c.27+1G>A	FCHO1	Single nucleotide variant (splice donor variant +1 more)	Immunodeficiency 76	GPathogenic
Select item 1569195	NM_015122.3(FCHO1):c.27+9C>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540460	NM_015122.3(FCHO1):c.27+12T>G	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119628	NM_015122.3(FCHO1):c.27+17T>C	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649554	NM_015122.3(FCHO1):c.28-32C>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802079	NM_015122.3(FCHO1):c.28-4G>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1499707	NM_015122.3(FCHO1):c.28-3C>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2065943	NM_015122.3(FCHO1):c.30C>A (p.Gly10=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1520124	NM_015122.3(FCHO1):c.30C>T (p.Gly10=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2802306	NM_015122.3(FCHO1):c.33G>T (p.Glu11Asp)	FCHO1 (E11D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1362210	NM_015122.3(FCHO1):c.40C>A (p.His14Asn)	FCHO1 (H14N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1481435	NM_015122.3(FCHO1):c.51G>T (p.Glu17Asp)	FCHO1 (E17D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1574977	NM_015122.3(FCHO1):c.66C>T (p.Ser22=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2757897	NM_015122.3(FCHO1):c.80C>T (p.Pro27Leu)	FCHO1 (P27L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1345534	NM_015122.3(FCHO1):c.97C>G (p.Leu33Val)	FCHO1 (L33V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1393176	NM_015122.3(FCHO1):c.98T>C (p.Leu33Pro)	FCHO1 (L33P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1410300	NM_015122.3(FCHO1):c.100G>A (p.Ala34Thr)	FCHO1 (A34T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 805884	NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro)	FCHO1 (A34P)	Single nucleotide variant (missense variant +2 more)	Severe congenital neutropenia +1 more	GPathogenic
Select item 1371016	NM_015122.3(FCHO1):c.101C>A (p.Ala34Glu)	FCHO1 (A34E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1364560	NM_015122.3(FCHO1):c.101C>T (p.Ala34Val)	FCHO1 (A34V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1555447	NM_015122.3(FCHO1):c.102G>C (p.Ala34=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1437907	NM_015122.3(FCHO1):c.113G>C (p.Arg38Pro)	FCHO1 (R38P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2016115	NM_015122.3(FCHO1):c.119+7T>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792134	NM_015122.3(FCHO1):c.119+11C>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004799	NM_015122.3(FCHO1):c.119+14G>C	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966661	NM_015122.3(FCHO1):c.119+14G>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647122	NM_015122.3(FCHO1):c.120-14A>G	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097464	NM_015122.3(FCHO1):c.120-13T>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661348	NM_015122.3(FCHO1):c.120-10T>G	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913352	NM_015122.3(FCHO1):c.120-8C>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 996542	NM_015122.3(FCHO1):c.120-1G>C	FCHO1	Single nucleotide variant (splice acceptor variant +1 more)	Immunodeficiency 76	GPathogenic
Select item 2804522	NM_015122.3(FCHO1):c.129C>T (p.Ile43=)	FCHO1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1473500	NM_015122.3(FCHO1):c.130G>A (p.Glu44Lys)	FCHO1 (E44K)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1666721	NM_015122.3(FCHO1):c.144G>A (p.Ser48=)	FCHO1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1673983	NM_015122.3(FCHO1):c.150G>A (p.Ala50=)	FCHO1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1500369	NM_015122.3(FCHO1):c.155C>T (p.Ala52Val)	FCHO1 (A2V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3023087	NM_015122.3(FCHO1):c.156G>A (p.Ala52=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2816570	NM_015122.3(FCHO1):c.162C>G (p.Leu54=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1901630	NM_015122.3(FCHO1):c.165C>T (p.Ser55=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2855635	NM_015122.3(FCHO1):c.168G>A (p.Lys56=)	FCHO1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1628141	NM_015122.3(FCHO1):c.169C>G (p.Leu57Val)	FCHO1 (L57V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1584228	NM_015122.3(FCHO1):c.169C>T (p.Leu57=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1572051	NM_015122.3(FCHO1):c.180C>T (p.Asn60=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1405321	NM_015122.3(FCHO1):c.181G>A (p.Gly61Arg)	FCHO1 (G61R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2248898	NM_015122.3(FCHO1):c.185C>A (p.Thr62Asn)	FCHO1 (T12N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1166277	NM_015122.3(FCHO1):c.194+8G>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2702145	NM_015122.3(FCHO1):c.194+9G>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900807	NM_015122.3(FCHO1):c.194+11T>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631587	NM_015122.3(FCHO1):c.194+16G>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931311	NM_015122.3(FCHO1):c.195-12G>A	FCHO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 805887	NM_015122.3(FCHO1):c.195-2A>C	FCHO1	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 76 +1 more	GPathogenic
Select item 1658541	NM_015122.3(FCHO1):c.207G>A (p.Pro69=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983475	NM_015122.3(FCHO1):c.231C>T (p.Ser77=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1430382	NM_015122.3(FCHO1):c.233C>T (p.Ser78Leu)	FCHO1 (S53L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1576716	NM_015122.3(FCHO1):c.243G>A (p.Leu81=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1378264	NM_015122.3(FCHO1):c.245C>T (p.Ala82Val)	FCHO1 (A32V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2745581	NM_015122.3(FCHO1):c.259G>C (p.Glu87Gln)	FCHO1 (E87Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1529131	NM_015122.3(FCHO1):c.264G>C (p.Leu88=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1364340	NM_015122.3(FCHO1):c.268C>T (p.Arg90Trp)	FCHO1 (R40W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1493922	NM_015122.3(FCHO1):c.272A>G (p.Lys91Arg)	FCHO1 (K66R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1655183	NM_015122.3(FCHO1):c.276A>G (p.Leu92=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1569140	NM_015122.3(FCHO1):c.291G>A (p.Lys97=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1969589	NM_015122.3(FCHO1):c.292G>T (p.Asp98Tyr)	FCHO1 (D73Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962857	NM_015122.3(FCHO1):c.294C>T (p.Asp98=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053346	NM_015122.3(FCHO1):c.302G>A (p.Arg101His)	FCHO1 (R51H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049123	NM_015122.3(FCHO1):c.306C>T (p.Tyr102=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1448191	NM_015122.3(FCHO1):c.307G>A (p.Gly103Ser)	FCHO1 (G103S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934494	NM_015122.3(FCHO1):c.327C>T (p.Thr109=)	FCHO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1353417	NM_015122.3(FCHO1):c.336+6T>A	FCHO1	Single nucleotide variant (intron variant)	FCHO1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2963475	NM_015122.3(FCHO1):c.336+9C>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785952	NM_015122.3(FCHO1):c.336+10G>C	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534631	NM_015122.3(FCHO1):c.336+10G>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653438	NM_015122.3(FCHO1):c.336+12G>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792813	NM_015122.3(FCHO1):c.336+13G>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985210	NM_015122.3(FCHO1):c.336+16G>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996650	NM_015122.3(FCHO1):c.336+18C>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785374	NM_015122.3(FCHO1):c.336+19G>A	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2687987	NM_015122.3(FCHO1):c.337-63G>A	FCHO1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2879271	NM_015122.3(FCHO1):c.337-17C>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168248	NM_015122.3(FCHO1):c.337-10T>C	FCHO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1671719	NM_015122.3(FCHO1):c.337-4G>T	FCHO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763873	NM_015122.3(FCHO1):c.360C>T (p.Thr120=)	FCHO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1555658	NM_015122.3(FCHO1):c.387C>T (p.Gly129=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1093404	NM_015122.3(FCHO1):c.388G>A (p.Val130Ile)	FCHO1 (V105I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3094092	NM_015122.3(FCHO1):c.410C>G (p.Ser137Cys)	FCHO1 (S112C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1376993	NM_015122.3(FCHO1):c.412C>T (p.Arg138Cys)	FCHO1 (R113C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 731284	NM_015122.3(FCHO1):c.414C>T (p.Arg138=)	FCHO1	Single nucleotide variant (synonymous variant)	FCHO1-related disorder +1 more	GBenign/Likely benign
Select item 2246892	NM_015122.3(FCHO1):c.420C>A (p.Asn140Lys)	FCHO1 (N115K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1489087	NM_015122.3(FCHO1):c.430C>T (p.Arg144Cys)	FCHO1 (R144C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1399678	NM_015122.3(FCHO1):c.431G>A (p.Arg144His)	FCHO1 (R131H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2296173	NM_015122.3(FCHO1):c.442C>A (p.Gln148Lys)	FCHO1 (Q123K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1450026	NM_015122.3(FCHO1):c.443A>G (p.Gln148Arg)	FCHO1 (Q148R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2329727	NM_015122.3(FCHO1):c.449G>A (p.Arg150Gln)	FCHO1 (R150Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2882772	NM_015122.3(FCHO1):c.451C>T (p.Leu151=)	FCHO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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