MFGE8[gene] - ClinVar

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

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 800030	NM_005928.4(MFGE8):c.1155G>A (p.Leu385=)	MFGE8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3125680	NM_005928.4(MFGE8):c.1093C>T (p.Arg365Cys)	MFGE8 (R313C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125679	NM_005928.4(MFGE8):c.1079C>T (p.Thr360Met)	MFGE8 (T248M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268017	NM_005928.4(MFGE8):c.1067A>T (p.Asn356Ile)	MFGE8 (N312I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325914	NM_005928.4(MFGE8):c.1052A>G (p.His351Arg)	MFGE8 (H299R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125678	NM_005928.4(MFGE8):c.1039A>G (p.Asn347Asp)	MFGE8 (N295D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514403	NM_005928.4(MFGE8):c.976G>A (p.Asp326Asn)	MFGE8 (D282N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559444	NM_005928.4(MFGE8):c.914A>C (p.Gln305Pro)	MFGE8 (Q297P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609815	NM_005928.4(MFGE8):c.860A>T (p.Gln287Leu)	MFGE8 (Q243L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125684	NM_005928.4(MFGE8):c.829G>C (p.Ala277Pro)	MFGE8 (A233P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346536	NM_005928.4(MFGE8):c.740C>T (p.Thr247Met)	MFGE8 (T203M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689424	NM_005928.4(MFGE8):c.721A>C (p.Ile241Leu)	MFGE8 (I129L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2329960	NM_005928.4(MFGE8):c.695A>G (p.Asn232Ser)	MFGE8 (N224S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243340	NM_005928.4(MFGE8):c.691G>A (p.Ala231Thr)	MFGE8 (A119T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723346	NM_005928.4(MFGE8):c.685G>A (p.Gly229Arg)	MFGE8 (G117R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 754069	NM_005928.4(MFGE8):c.663G>A (p.Glu221=)	MFGE8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599451	NM_005928.4(MFGE8):c.655C>T (p.Arg219Cys)	MFGE8 (R175C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508719	NM_005928.4(MFGE8):c.641C>T (p.Thr214Met)	MFGE8 (T102M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237580	NM_005928.4(MFGE8):c.637C>T (p.His213Tyr)	MFGE8 (H101Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125683	NM_005928.4(MFGE8):c.613G>A (p.Val205Met)	MFGE8 (V161M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535911	NM_005928.4(MFGE8):c.558G>C (p.Trp186Cys)	MFGE8 (W142C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341105	NM_005928.4(MFGE8):c.502G>A (p.Glu168Lys)	MFGE8 (E160K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2218726	NM_005928.4(MFGE8):c.472T>G (p.Phe158Val)	MFGE8 (F150V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730609	NM_005928.4(MFGE8):c.443G>A (p.Arg148His)	MFGE8 (R140H +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2355021	NM_005928.4(MFGE8):c.442C>T (p.Arg148Cys)	MFGE8 (R104C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212152	NM_005928.4(MFGE8):c.400C>T (p.Arg134Trp)	MFGE8 (R22W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713764	NM_005928.4(MFGE8):c.345T>C (p.Asn115=)	MFGE8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2525729	NM_005928.4(MFGE8):c.339G>C (p.Met113Ile)	MFGE8 (M1I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3125682	NM_005928.4(MFGE8):c.310G>C (p.Glu104Gln)	MFGE8 (E104Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785507	NM_005928.4(MFGE8):c.205+9G>C	MFGE8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737708	NM_005928.4(MFGE8):c.183C>T (p.Tyr61=)	MFGE8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2342228	NM_005928.4(MFGE8):c.181T>A (p.Tyr61Asn)	MFGE8 (Y53N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558211	NM_005928.4(MFGE8):c.178G>A (p.Gly60Ser)	MFGE8 (G60S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 718927	NM_005928.4(MFGE8):c.168G>A (p.Thr56=)	MFGE8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3125681	NM_005928.4(MFGE8):c.155C>T (p.Ser52Leu)	MFGE8 (S52L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243732	NM_005928.4(MFGE8):c.100A>G (p.Asn34Asp)	MFGE8 (N26D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125685	NM_005928.4(MFGE8):c.91C>G (p.Pro31Ala)	MFGE8 (P31A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 721032	NM_005928.4(MFGE8):c.76A>G (p.Ile26Val)	MFGE8 (I18V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2598099	NM_005928.4(MFGE8):c.64G>T (p.Val22Phe)	MFGE8 (V22F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737939	NM_005928.4(MFGE8):c.42G>A (p.Leu14=)	MFGE8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2547672	NM_005928.4(MFGE8):c.34G>A (p.Gly12Ser)	MFGE8 (G12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 760900	NM_005928.4(MFGE8):c.24C>T (p.Ala8=)	MFGE8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	IDH2, IGF1R +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	LINC00928, PLIN1 +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	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 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 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 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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: 75