ClinVar for Gene (Select 161835) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280047	NM_152597.5(FSIP1):c.1737A>C (p.Lys579Asn)	FSIP1 (K579N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280046	NM_152597.5(FSIP1):c.1450C>G (p.Leu484Val)	FSIP1, LOC126862111 (L484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280045	NM_152597.5(FSIP1):c.196A>G (p.Arg66Gly)	FSIP1 (R66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280044	NM_152597.5(FSIP1):c.62G>T (p.Arg21Leu)	FSIP1 (R21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243876	NC_000015.9:g.(?_38545387)_(40293445_?)dup	EIF2AK4, FAM98B +7 more	Duplication	not provided	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	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 3097200	NM_152597.5(FSIP1):c.626A>G (p.Tyr209Cys)	FSIP1 (Y209C)	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 3097198	NM_152597.5(FSIP1):c.172G>A (p.Glu58Lys)	FSIP1 (E58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3097195	NM_152597.5(FSIP1):c.1071A>C (p.Glu357Asp)	FSIP1 (E357D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2645162	NM_152597.5(FSIP1):c.1572G>A (p.Ser524=)	FSIP1, LOC126862111	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2588300	NM_152597.5(FSIP1):c.155G>A (p.Gly52Asp)	FSIP1 (G52D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2540472	NM_152597.5(FSIP1):c.769A>G (p.Arg257Gly)	FSIP1 (R257G)	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 2492305	NM_152597.5(FSIP1):c.1152G>T (p.Glu384Asp)	FSIP1 (E384D)	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 2462576	NM_152597.5(FSIP1):c.1645C>T (p.Leu549Phe)	FSIP1, LOC126862111 (L549F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2409558	NM_152597.5(FSIP1):c.1477A>C (p.Met493Leu)	FSIP1, LOC126862111 (M493L)	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 2378137	NM_152597.5(FSIP1):c.895G>T (p.Asp299Tyr)	FSIP1 (D299Y)	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 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 2346477	NM_152597.5(FSIP1):c.1136A>G (p.His379Arg)	FSIP1 (H379R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2329466	NM_152597.5(FSIP1):c.708A>T (p.Lys236Asn)	FSIP1 (K236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2327617	NM_152597.5(FSIP1):c.1609T>C (p.Phe537Leu)	FSIP1, LOC126862111 (F537L)	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 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 2276965	NM_152597.5(FSIP1):c.212A>T (p.Asp71Val)	FSIP1 (D71V)	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 2265683	NM_152597.5(FSIP1):c.1682C>T (p.Pro561Leu)	FSIP1, LOC126862111 (P561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2250223	NM_152597.5(FSIP1):c.1621C>G (p.Pro541Ala)	FSIP1, LOC126862111 (P541A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2219579	NM_152597.5(FSIP1):c.668A>G (p.Asp223Gly)	FSIP1 (D223G)	Single nucleotide variant (missense variant)	not specified	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	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 789067	NM_152597.5(FSIP1):c.1102A>T (p.Ile368Leu)	FSIP1 (I368L)	Single nucleotide variant (missense variant)	not provided	GBenign
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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 402884	NM_152597.5(FSIP1):c.127-14G>T	FSIP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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	CHRFAM7A, CHRM5 +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
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 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

ClinVar

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Links from Gene

Items: 60