FSIP1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	CDIN1, DPH6 +92 more	Copy number loss	See cases	GPathogenic
Select item 2409559	NM_152597.5(FSIP1):c.1684G>A (p.Glu562Lys)	FSIP1, LOC126862111 (E562K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265683	NM_152597.5(FSIP1):c.1682C>T (p.Pro561Leu)	FSIP1, LOC126862111 (P561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462576	NM_152597.5(FSIP1):c.1645C>T (p.Leu549Phe)	FSIP1, LOC126862111 (L549F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250223	NM_152597.5(FSIP1):c.1621C>G (p.Pro541Ala)	FSIP1, LOC126862111 (P541A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327617	NM_152597.5(FSIP1):c.1609T>C (p.Phe537Leu)	FSIP1, LOC126862111 (F537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645162	NM_152597.5(FSIP1):c.1572G>A (p.Ser524=)	FSIP1, LOC126862111	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097197	NM_152597.5(FSIP1):c.1477A>G (p.Met493Val)	FSIP1, LOC126862111 (M493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409558	NM_152597.5(FSIP1):c.1477A>C (p.Met493Leu)	FSIP1, LOC126862111 (M493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326458	NM_152597.5(FSIP1):c.1432G>A (p.Ala478Thr)	FSIP1, LOC126862111 (A478T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329465	NM_152597.5(FSIP1):c.1241A>C (p.Glu414Ala)	FSIP1, LOC126862111 (E414A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58352	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3	ANKRD63, BMF +47 more	Copy number gain	See cases	GUncertain significance
Select item 2492305	NM_152597.5(FSIP1):c.1152G>T (p.Glu384Asp)	FSIP1 (E384D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346477	NM_152597.5(FSIP1):c.1136A>G (p.His379Arg)	FSIP1 (H379R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 789067	NM_152597.5(FSIP1):c.1102A>T (p.Ile368Leu)	FSIP1 (I368L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2226375	NM_152597.5(FSIP1):c.1078A>G (p.Met360Val)	FSIP1 (M360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097195	NM_152597.5(FSIP1):c.1071A>C (p.Glu357Asp)	FSIP1 (E357D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354304	NM_152597.5(FSIP1):c.1040G>A (p.Arg347Gln)	FSIP1 (R347Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352571	NM_152597.5(FSIP1):c.970G>A (p.Asp324Asn)	FSIP1 (D324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467143	NM_152597.5(FSIP1):c.965A>C (p.Glu322Ala)	FSIP1 (E322A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378137	NM_152597.5(FSIP1):c.895G>T (p.Asp299Tyr)	FSIP1 (D299Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097201	NM_152597.5(FSIP1):c.812T>C (p.Met271Thr)	FSIP1 (M271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540472	NM_152597.5(FSIP1):c.769A>G (p.Arg257Gly)	FSIP1 (R257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329466	NM_152597.5(FSIP1):c.708A>T (p.Lys236Asn)	FSIP1 (K236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276442	NM_152597.5(FSIP1):c.704A>G (p.Lys235Arg)	FSIP1 (K235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219579	NM_152597.5(FSIP1):c.668A>G (p.Asp223Gly)	FSIP1 (D223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402004	NM_152597.5(FSIP1):c.654A>C (p.Lys218Asn)	FSIP1 (K218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377146	NM_152597.5(FSIP1):c.650A>G (p.Asn217Ser)	FSIP1 (N217S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097200	NM_152597.5(FSIP1):c.626A>G (p.Tyr209Cys)	FSIP1 (Y209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305697	NM_152597.5(FSIP1):c.428G>T (p.Gly143Val)	FSIP1 (G143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277447	NM_152597.5(FSIP1):c.301G>C (p.Glu101Gln)	FSIP1 (E101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611359	NM_152597.5(FSIP1):c.263A>G (p.Asp88Gly)	FSIP1 (D88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097199	NM_152597.5(FSIP1):c.220G>A (p.Glu74Lys)	FSIP1 (E74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276965	NM_152597.5(FSIP1):c.212A>T (p.Asp71Val)	FSIP1 (D71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097198	NM_152597.5(FSIP1):c.172G>A (p.Glu58Lys)	FSIP1 (E58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588300	NM_152597.5(FSIP1):c.155G>A (p.Gly52Asp)	FSIP1 (G52D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260994	NM_152597.5(FSIP1):c.155G>C (p.Gly52Ala)	FSIP1 (G52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335191	NM_152597.5(FSIP1):c.130G>A (p.Asp44Asn)	FSIP1 (D44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402884	NM_152597.5(FSIP1):c.127-14G>T	FSIP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2540863	NM_152597.5(FSIP1):c.85G>C (p.Ala29Pro)	FSIP1 (A29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531580	NM_152597.5(FSIP1):c.26A>G (p.Asp9Gly)	FSIP1 (D9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2684755	GRCh37/hg19 15q14(chr15:38823493-39911204)x3	FSIP1, LINC02694 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395223	GRCh37/hg19 15q14(chr15:36905047-40037396)x4	CDIN1, FAM98B +8 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 221498	GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)x3	BUB1B, EIF2AK4 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54