4547[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
Select item 347008	NM_000253.3(MTTP):c.-252G>C	LOC126807124, MTTP	Single nucleotide variant	Abetalipoproteinaemia	GBenign
Select item 347009	NM_000253.3(MTTP):c.-241G>A	LOC126807124, MTTP	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GBenign
Select item 347010	NM_000253.3(MTTP):c.-214G>A	LOC126807124, MTTP	Single nucleotide variant (synonymous variant)	MTTP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 347011	NM_000253.4(MTTP):c.-205G>A	LOC126807124, MTTP	Single nucleotide variant (5 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1678403	NM_000253.4(MTTP):c.-153del	LOC126807124, MTTP	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 347012	NM_000253.4(MTTP):c.-153C>G	LOC126807124, MTTP	Single nucleotide variant (5 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347013	NM_000253.4(MTTP):c.-149C>A	LOC126807124, MTTP	Single nucleotide variant (5 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 3040642	NM_000253.4(MTTP):c.-102+3G>A	LOC126807124, MTTP	Single nucleotide variant (intron variant)	MTTP-related condition	GLikely benign
Select item 1168852	NM_000253.4(MTTP):c.-101-478G>T	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168853	NM_000253.4(MTTP):c.-101-149T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347014	NM_001386140.1(MTTP):c.-84T>C	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 347015	NM_001386140.1(MTTP):c.-82C>T	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 347016	NM_001386140.1(MTTP):c.-54C>T	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 347017	NM_001386140.1(MTTP):c.-28T>C	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 901151	NM_001386140.1(MTTP):c.-20G>A	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
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 2728721	NM_001386140.1(MTTP):c.9del (p.Ala5fs)	MTTP (A5fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1711595	NM_001386140.1(MTTP):c.13dup (p.Ala5fs)	MTTP (A5fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2273330	NM_001386140.1(MTTP):c.16G>T (p.Val6Leu)	MTTP (V6L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2826623	NM_001386140.1(MTTP):c.18G>T (p.Val6=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2194976	NM_001386140.1(MTTP):c.20T>G (p.Leu7Arg)	MTTP (L7R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1724822	NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)	MTTP (F8fs)	Insertion (frameshift variant +1 more)	Abetalipoproteinaemia	GLikely pathogenic
Select item 2030331	NM_001386140.1(MTTP):c.24T>C (p.Phe8=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1557688	NM_001386140.1(MTTP):c.30C>T (p.Cys10=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 989812	NM_001386140.1(MTTP):c.34A>G (p.Ile12Val)	MTTP (I12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2749775	NM_001386140.1(MTTP):c.36T>C (p.Ile12=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	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 425335	NM_001386140.1(MTTP):c.43T>C (p.Tyr15His)	MTTP (Y15H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 901696	NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)	MTTP (S18T)	Single nucleotide variant (missense variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 1592904	NM_001386140.1(MTTP):c.54T>C (p.Ser18=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	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 1139528	NM_001386140.1(MTTP):c.61+9G>T	MTTP	Single nucleotide variant (intron 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 2818830	NM_001386140.1(MTTP):c.61+20T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2890135	NM_001386140.1(MTTP):c.62-18G>A	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086537	NM_001386140.1(MTTP):c.62-16_62-9dup	MTTP	Duplication (intron variant)	not provided	GLikely benign
Select item 1587622	NM_001386140.1(MTTP):c.62-13T>C	MTTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076520	NM_001386140.1(MTTP):c.62-5T>A	MTTP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2203554	NM_001386140.1(MTTP):c.62-2A>G	MTTP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1209604	NM_001386140.1(MTTP):c.64C>T (p.His22Tyr)	MTTP (H22Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1401551	NM_001386140.1(MTTP):c.70A>G (p.Thr24Ala)	MTTP (T24A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2133532	NM_001386140.1(MTTP):c.73G>A (p.Gly25Ser)	MTTP (G25S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430126	NM_001386140.1(MTTP):c.75dup (p.Leu26fs)	MTTP (L26fs)	Duplication (frameshift variant +1 more)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1401180	NM_001386140.1(MTTP):c.74G>A (p.Gly25Asp)	MTTP (G25D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2090811	NM_001386140.1(MTTP):c.78C>T (p.Leu26=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1983925	NM_001386140.1(MTTP):c.78C>G (p.Leu26=)	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1411259	NM_001386140.1(MTTP):c.83T>G (p.Leu28Ter)	MTTP (L28*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 953090	NM_001386140.1(MTTP):c.91G>A (p.Asp31Asn)	MTTP (D31N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 733342	NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln)	MTTP (R32Q)	Single nucleotide variant (missense variant +1 more)	MTTP-related condition +1 more	GBenign/Likely 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 1078011	NM_001386140.1(MTTP):c.96G>A (p.Arg32=)	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2789810	NM_001386140.1(MTTP):c.99G>C (p.Leu33=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1108643	NM_001386140.1(MTTP):c.99G>A (p.Leu33=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813077	NM_001386140.1(MTTP):c.102C>T (p.Tyr34=)	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2418922	NM_001386140.1(MTTP):c.103_127del (p.Lys35fs)	MTTP (K35fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2745785	NM_001386140.1(MTTP):c.109dup (p.Thr37fs)	MTTP (T37fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 901697	NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)	MTTP (T37M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2103485	NM_001386140.1(MTTP):c.111G>C (p.Thr37=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 763318	NM_001386140.1(MTTP):c.111G>A (p.Thr37=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	MTTP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1724911	NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)	MTTP (Y38*)	Single nucleotide variant (nonsense +1 more)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1593912	NM_001386140.1(MTTP):c.114C>T (p.Tyr38=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716451	NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)	MTTP (V42I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2003691	NM_001386140.1(MTTP):c.126T>A (p.Val42=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 972557	NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)	MTTP (L44V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1612538	NM_001386140.1(MTTP):c.132T>G (p.Leu44=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2164373	NM_001386140.1(MTTP):c.136C>T (p.Arg46Trp)	MTTP (R46W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2138693	NM_001386140.1(MTTP):c.137G>A (p.Arg46Gln)	MTTP (R46Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977678	NM_001386140.1(MTTP):c.137G>C (p.Arg46Pro)	MTTP (R46P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1609637	NM_001386140.1(MTTP):c.141C>A (p.Gly47=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1075423	NM_001386140.1(MTTP):c.141del (p.Gly49fs)	MTTP (G49fs)	Deletion (frameshift variant +1 more)	Metabolic syndrome X +2 more	GPathogenic/Likely pathogenic
Select item 858460	NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu)	MTTP (G49E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1078169	NM_001386140.1(MTTP):c.151C>T (p.Leu51=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786087	NM_001386140.1(MTTP):c.159C>T (p.Asp53=)	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 901698	NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)	MTTP (D53E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 743569	NM_001386140.1(MTTP):c.162C>T (p.Ser54=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 854865	NM_001386140.1(MTTP):c.163G>A (p.Val55Met)	MTTP (V55M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1492623	NM_001386140.1(MTTP):c.167G>A (p.Gly56Asp)	MTTP (G56D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1080960	NM_001386140.1(MTTP):c.168C>T (p.Gly56=)	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2080628	NM_001386140.1(MTTP):c.171C>G (p.Tyr57Ter)	MTTP (Y57*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2152898	NM_001386140.1(MTTP):c.172C>T (p.Arg58Cys)	MTTP (R58C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 863670	NM_001386140.1(MTTP):c.173G>A (p.Arg58His)	MTTP (R58H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1661122	NM_001386140.1(MTTP):c.174C>T (p.Arg58=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2026691	NM_001386140.1(MTTP):c.180C>T (p.Ser60=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2158961	NM_001386140.1(MTTP):c.185A>C (p.Asn62Thr)	MTTP (N62T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2064741	NM_001386140.1(MTTP):c.186_187del (p.Val63fs)	MTTP (V63fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 746422	NM_001386140.1(MTTP):c.186C>T (p.Asn62=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934965	NM_001386140.1(MTTP):c.196G>A (p.Ala66Thr)	MTTP (A66T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1584835	NM_001386140.1(MTTP):c.204A>G (p.Leu68=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 14234	NM_001386140.1(MTTP):c.215del (p.Pro72fs)	MTTP (P72fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1122853	NM_001386140.1(MTTP):c.216T>C (p.Pro72=)	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1107337	NM_001386140.1(MTTP):c.216T>G (p.Pro72=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998587	NM_001386140.1(MTTP):c.219T>C (p.Asp73=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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