"GeneDx"[submitter] AND "MTTP"[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 1168853	NC_000004.12:g.99574660T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347018	NM_001386140.1(MTTP):c.-6G>A	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 347019	NM_001386140.1(MTTP):c.39C>G (p.Ser13=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1233692	NM_001386140.1(MTTP):c.61+136_61+137del	MTTP	Deletion (intron variant)	not provided	GBenign
Select item 1295261	NM_001386140.1(MTTP):c.62-240G>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347020	NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)	MTTP (R46G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1203430	NM_001386140.1(MTTP):c.249+23A>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261331	NM_001386140.1(MTTP):c.250-90T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1005881	NM_001386140.1(MTTP):c.265G>A (p.Val89Ile)	MTTP (V6I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197124	NM_001386140.1(MTTP):c.285G>C (p.Gln95His)	MTTP (Q95H +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +2 more	GBenign
Select item 347021	NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)	MTTP (E98D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 14242	NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)	MTTP (I128T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1215666	NM_001386140.1(MTTP):c.393+234G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295319	NM_001386140.1(MTTP):c.394-250G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226596	NM_001386140.1(MTTP):c.394-32T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 197648	NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)	MTTP (N140S +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 129625	NM_001386140.1(MTTP):c.453T>C (p.Gly151=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +2 more	GBenign
Select item 347024	NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser)	MTTP (N166S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1329714	NM_001386140.1(MTTP):c.501+62T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295958	NM_001386140.1(MTTP):c.501+108G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279114	NM_001386140.1(MTTP):c.502-254C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295270	NM_001386140.1(MTTP):c.502-42C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347025	NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)	MTTP (V168I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 129626	NM_001386140.1(MTTP):c.522T>C (p.Cys174=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 501124	NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn)	MTTP (K184N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 347026	NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)	MTTP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 129627	NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)	MTTP (Q244E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1225858	NM_001386140.1(MTTP):c.758+81TG[7]	MTTP	Microsatellite (intron variant)	not provided	GBenign
Select item 1217015	NM_001386140.1(MTTP):c.758+201A>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271116	NM_001386140.1(MTTP):c.759-116A>G	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129628	NM_001386140.1(MTTP):c.891C>G (p.His297Gln)	MTTP (H297Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 347030	NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg)	MTTP (C301R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 347031	NM_001386140.1(MTTP):c.933C>A (p.Thr311=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129629	NM_001386140.1(MTTP):c.969T>C (p.Ala323=)	MTTP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1295323	NM_001386140.1(MTTP):c.1067+102A>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193354	NM_001386140.1(MTTP):c.1068-108dup	MTTP	Duplication (intron variant)	not provided	GLikely benign
Select item 1285749	NM_001386140.1(MTTP):c.1068-108del	MTTP	Deletion (intron variant)	not provided	GBenign
Select item 1295322	NM_001386140.1(MTTP):c.1068-85C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 283193	NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)	MTTP (D384A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1295321	NM_001386140.1(MTTP):c.1237-225T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260748	NM_001386140.1(MTTP):c.1237-219_1237-134del	MTTP	Deletion (intron variant)	not provided	GBenign
Select item 1269701	NM_001386140.1(MTTP):c.1237-172C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295324	NM_001386140.1(MTTP):c.1237-85G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317430	NM_001386140.1(MTTP):c.1331_1332delinsAT (p.Gly444Asp)	MTTP (G361D +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1217632	NM_001386140.1(MTTP):c.1344+99C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219332	NM_001386140.1(MTTP):c.1345-77C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288063	NM_001386140.1(MTTP):c.1557+48dup	MTTP	Duplication (intron variant)	not provided	GBenign
Select item 1233261	NM_001386140.1(MTTP):c.1557+47_1557+48dup	MTTP	Duplication (intron variant)	not provided	GBenign
Select item 1262709	NM_001386140.1(MTTP):c.1557+48del	MTTP	Deletion (intron variant)	not provided	GBenign
Select item 1182313	NM_001386140.1(MTTP):c.1557+191_1557+196del	MTTP	Microsatellite (intron variant)	not provided	GBenign
Select item 1174390	NM_001386140.1(MTTP):c.1557+264C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295259	NM_001386140.1(MTTP):c.1558-209C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284227	NM_001386140.1(MTTP):c.1731C>T (p.Ala577=)	MTTP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 347037	NM_001386140.1(MTTP):c.1769+9C>T	MTTP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 347038	NM_001386140.1(MTTP):c.1769+14C>T	MTTP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1271144	NM_001386140.1(MTTP):c.1770-68del	MTTP	Deletion (intron variant)	not provided	GBenign
Select item 1295268	NM_001386140.1(MTTP):c.1770-47A>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207923	NM_001386140.1(MTTP):c.1867+36C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 347040	NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)	MTTP (G661S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1260037	NM_001386140.1(MTTP):c.1989+27T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253617	NM_001386140.1(MTTP):c.1989+192T>A	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295320	NM_001386140.1(MTTP):c.1990-157C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191481	NM_001386140.1(MTTP):c.1990-97C>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258863	NM_001386140.1(MTTP):c.1990-29G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347042	NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +1 more	GBenign/Likely benign
Select item 1235879	NM_001386140.1(MTTP):c.2217+185A>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276616	NM_001386140.1(MTTP):c.2217+257T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263351	NM_001386140.1(MTTP):c.2218-235T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251467	NM_001386140.1(MTTP):c.2218-32T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198337	NM_001386140.1(MTTP):c.2342+238A>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295325	NM_001386140.1(MTTP):c.2343-51A>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 285288	NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	MTTP (L811F +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 1250596	NM_001386140.1(MTTP):c.2513+94A>G	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243923	NM_001386140.1(MTTP):c.2513+193del	MTTP	Deletion (intron variant)	not provided	GBenign
Select item 1295959	NM_001386140.1(MTTP):c.2513+190A>G	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296080	NM_001386140.1(MTTP):c.2513+235T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295269	NM_001386140.1(MTTP):c.2514-89A>G	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14243	NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)	MTTP (G865* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 347045	NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg)	MTTP (K879R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 425336	NM_001386140.1(MTTP):c.2673C>T (p.Ser891=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 901281	NM_001386140.1(MTTP):c.*113G>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia +1 more	GBenign/Likely benign
Select item 347051	NM_001386140.1(MTTP):c.*183C>T	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia +1 more	GBenign
Select item 901830	NM_001386140.1(MTTP):c.*267A>C	MTTP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 347052	NM_001386140.1(MTTP):c.*279C>G	MTTP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign

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Items: 86