MFGE8[gene] - ClinVar

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Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +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	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +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 3294508	NM_005928.4(MFGE8):c.748A>T (p.Ser250Cys)	MFGE8 (S138C +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 3294509	NM_005928.4(MFGE8):c.659T>C (p.Phe220Ser)	MFGE8 (F108S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3294507	NM_005928.4(MFGE8):c.340G>T (p.Val114Phe)	MFGE8 (V2F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3294505	NM_005928.4(MFGE8):c.320G>A (p.Arg107His)	MFGE8 (R99H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3294506	NM_005928.4(MFGE8):c.308C>T (p.Pro103Leu)	MFGE8 (P95L +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 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
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	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +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	CGNL1, MAPDA +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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +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	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +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	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 81