ClinVar for Gene (Select 4547) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233396	NM_001386140.1(MTTP):c.1834G>C (p.Gly612Arg)	MTTP (G529R +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 3218443	NM_001386140.1(MTTP):c.2194A>T (p.Ile732Phe)	MTTP (I649F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218439	NM_001386140.1(MTTP):c.2177G>C (p.Ser726Thr)	MTTP (S643T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218424	NM_001386140.1(MTTP):c.1781G>A (p.Arg594His)	MTTP (R511H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3041485	NM_001386140.1(MTTP):c.2189G>T (p.Gly730Val)	MTTP (G647V +1 more)	Single nucleotide variant (missense variant)	MTTP-related disorder	GUncertain significance
Select item 3040642	NM_000253.4(MTTP):c.-102+3G>A	LOC126807124, MTTP	Single nucleotide variant (intron variant)	MTTP-related disorder	GLikely benign
Select item 3032498	NM_001386140.1(MTTP):c.1067+1G>A	MTTP	Single nucleotide variant (splice donor variant)	MTTP-related disorder	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023561	NM_001386140.1(MTTP):c.394-6del	MTTP	Deletion (intron variant)	not provided	GBenign
Select item 3022650	NM_001386140.1(MTTP):c.910-14T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020506	NM_001386140.1(MTTP):c.1932del (p.Arg645fs)	MTTP (R562fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3017557	NM_001386140.1(MTTP):c.393+7_393+9del	MTTP	Deletion (intron variant)	not provided	GLikely benign
Select item 3015597	NM_001386140.1(MTTP):c.1868-17T>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014109	NM_001386140.1(MTTP):c.1867+16AG[3]	MTTP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3013584	NM_001386140.1(MTTP):c.1344+20C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011116	NM_001386140.1(MTTP):c.759-16C>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011109	NM_001386140.1(MTTP):c.249+12C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010446	NM_001386140.1(MTTP):c.1770-20T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006084	NM_001386140.1(MTTP):c.2513+19G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005548	NM_001386140.1(MTTP):c.1068-17T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003824	NM_001386140.1(MTTP):c.1068-16A>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002100	NM_001386140.1(MTTP):c.1068-19A>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999044	NM_001386140.1(MTTP):c.1197del (p.Phe399fs)	MTTP (F316fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2998587	NM_001386140.1(MTTP):c.219T>C (p.Asp73=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996954	NM_001386140.1(MTTP):c.1990-16T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995210	NM_001386140.1(MTTP):c.1990-14T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991856	NM_001386140.1(MTTP):c.1770-20T>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991822	NM_001386140.1(MTTP):c.1989+16T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986804	NM_001386140.1(MTTP):c.909+19G>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986769	NM_001386140.1(MTTP):c.96G>T (p.Arg32=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986056	NM_001386140.1(MTTP):c.909+7G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984156	NM_001386140.1(MTTP):c.394-2A>C	MTTP	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2983111	NM_001386140.1(MTTP):c.1854T>C (p.Thr618=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981458	NM_001386140.1(MTTP):c.1164C>A (p.Ile388=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979028	NM_001386140.1(MTTP):c.2343-1G>A	MTTP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2976816	NM_001386140.1(MTTP):c.394-11C>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975830	NM_001386140.1(MTTP):c.150A>G (p.Lys50=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970585	NM_001386140.1(MTTP):c.1989+13T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969990	NM_001386140.1(MTTP):c.1990-20A>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969026	NM_001386140.1(MTTP):c.1345-16G>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966514	NM_001386140.1(MTTP):c.1974T>C (p.Gly658=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965087	NM_001386140.1(MTTP):c.759-18C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962214	NM_001386140.1(MTTP):c.2514-7T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956054	NM_001386140.1(MTTP):c.1533T>C (p.Tyr511=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956000	NM_001386140.1(MTTP):c.61+11G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955206	NM_001386140.1(MTTP):c.2342+16T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920307	NM_001386140.1(MTTP):c.910-13G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918112	NM_001386140.1(MTTP):c.1989+14C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916081	NM_001386140.1(MTTP):c.978C>T (p.Val326=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915574	NM_001386140.1(MTTP):c.2616A>G (p.Gln872=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913868	NM_001386140.1(MTTP):c.1068-5del	MTTP	Deletion (intron variant)	not provided	GBenign
Select item 2909965	NM_001386140.1(MTTP):c.619-16C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907939	NM_001386140.1(MTTP):c.2513+7T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905489	NM_001386140.1(MTTP):c.1769+16C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905122	NM_001386140.1(MTTP):c.1769+12T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902388	NM_001386140.1(MTTP):c.250-20C>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901456	NM_001386140.1(MTTP):c.394-14C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901449	NM_001386140.1(MTTP):c.501+9C>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901421	NM_001386140.1(MTTP):c.1344+18C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900313	NM_001386140.1(MTTP):c.2514-17_2514-15del	MTTP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2898262	NM_001386140.1(MTTP):c.61+8T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897712	NM_001386140.1(MTTP):c.2218-12T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894072	NM_001386140.1(MTTP):c.759-19T>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893915	NM_001386140.1(MTTP):c.2079A>T (p.Ser693=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893041	NM_001386140.1(MTTP):c.1068-17T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890135	NM_001386140.1(MTTP):c.62-18G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889956	NM_001386140.1(MTTP):c.2342+16T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889762	NM_001386140.1(MTTP):c.1344+16A>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888298	NM_001386140.1(MTTP):c.1989+18G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884886	NM_001386140.1(MTTP):c.2217+14_2217+20del	MTTP	Deletion (intron variant)	not provided	GLikely benign
Select item 2884885	NM_001386140.1(MTTP):c.2217+11C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884245	NM_001386140.1(MTTP):c.502-12CTTT[3]	MTTP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2881343	NM_001386140.1(MTTP):c.1867+13_1867+19dup	MTTP	Duplication (intron variant)	not provided	GLikely benign
Select item 2881081	NM_001386140.1(MTTP):c.513T>G (p.Ser171=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879170	NM_001386140.1(MTTP):c.1068-13C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878115	NM_001386140.1(MTTP):c.1867+11C>G	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876037	NM_001386140.1(MTTP):c.876G>A (p.Gln292=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872999	NM_001386140.1(MTTP):c.1503C>T (p.Ser501=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871245	NM_001386140.1(MTTP):c.2351_2352del (p.Val784fs)	MTTP (V701fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2871030	NM_001386140.1(MTTP):c.933C>T (p.Thr311=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869590	NM_001386140.1(MTTP):c.1584C>T (p.Tyr528=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868823	NM_001386140.1(MTTP):c.1068-12C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866027	NM_001386140.1(MTTP):c.1932G>A (p.Arg644=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862771	NM_001386140.1(MTTP):c.502-17C>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859917	NM_001386140.1(MTTP):c.1067+9C>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859894	NM_001386140.1(MTTP):c.1068-17dup	MTTP	Duplication (intron variant)	not provided	GLikely benign
Select item 2859764	NM_001386140.1(MTTP):c.1345-10G>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858773	NM_001386140.1(MTTP):c.2508A>C (p.Pro836=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856562	NM_001386140.1(MTTP):c.758+16A>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856547	NM_001386140.1(MTTP):c.2382C>T (p.Ser794=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855045	NM_001386140.1(MTTP):c.1990-20A>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854134	NM_001386140.1(MTTP):c.1345-8T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848080	NM_001386140.1(MTTP):c.393+1G>C	MTTP	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2846537	NM_001386140.1(MTTP):c.1557+19T>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842379	NM_001386140.1(MTTP):c.2160A>C (p.Ala720=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841740	NM_001386140.1(MTTP):c.1812T>C (p.Asn604=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841700	NM_001386140.1(MTTP):c.1230C>T (p.Ala410=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841091	NM_001386140.1(MTTP):c.619-17G>T	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign

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