7112[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 684009	NM_003276.2(TMPO):c.-439C>T	TMPO-AS1, TMPO	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 310756	NM_001032283.3(TMPO):c.-126A>T	TMPO, TMPO-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 516734	NM_001032283.3(TMPO):c.-11A>C	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2573822	NM_001032283.3(TMPO):c.-2A>T	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1784211	NM_001032283.3(TMPO):c.-1G>C	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2163058	NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)	TMPO, TMPO-AS1 (P2L)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 695615	NM_001032283.3(TMPO):c.13C>T (p.Leu5=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +2 more	GBenign/Likely benign
Select item 2503996	NM_001032283.3(TMPO):c.19G>C (p.Asp7His)	TMPO, TMPO-AS1 (D7H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 263441	NM_001032283.3(TMPO):c.24C>T (p.Pro8=)	TMPO-AS1, TMPO	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2562958	NM_001032283.3(TMPO):c.26C>T (p.Ser9Leu)	TMPO, TMPO-AS1 (S9L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1734055	NM_001032283.3(TMPO):c.36A>G (p.Thr12=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 1742549	NM_001032283.3(TMPO):c.46T>C (p.Leu16=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1621429	NM_001032283.3(TMPO):c.48G>A (p.Leu16=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1593547	NM_001032283.3(TMPO):c.51G>A (p.Lys17=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1442626	NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly)	TMPO, TMPO-AS1 (S18G)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3223178	NM_001032283.3(TMPO):c.54T>G (p.Ser18Arg)	TMPO, TMPO-AS1 (S18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1935483	NM_001032283.3(TMPO):c.63C>A (p.Val21=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1535726	NM_001032283.3(TMPO):c.66C>T (p.Ala22=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 180005	NM_001032283.3(TMPO):c.70A>C (p.Asn24His)	TMPO, TMPO-AS1 (N24H)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +2 more	GUncertain significance
Select item 3223182	NM_001032283.3(TMPO):c.72T>G (p.Asn24Lys)	TMPO, TMPO-AS1 (N24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929004	NM_001032283.3(TMPO):c.72T>C (p.Asn24=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 2620712	NM_001032283.3(TMPO):c.77C>G (p.Thr26Arg)	TMPO, TMPO-AS1 (T26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43692	NM_001032283.3(TMPO):c.77C>T (p.Thr26Met)	TMPO, TMPO-AS1 (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572875	NM_001032283.3(TMPO):c.80dup (p.Pro28fs)	TMPO, TMPO-AS1 (P28fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 310760	NM_001032283.3(TMPO):c.81G>T (p.Leu27=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GBenign
Select item 935021	NM_001032283.3(TMPO):c.84G>A (p.Pro28=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2558333	NM_001032283.3(TMPO):c.85G>T (p.Ala29Ser)	TMPO, TMPO-AS1 (A29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700753	NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr)	TMPO, TMPO-AS1 (A29T)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 3358074	NM_001032283.3(TMPO):c.86C>T (p.Ala29Val)	TMPO, TMPO-AS1 (A29V)	Single nucleotide variant (missense variant)	TMPO-related disorder	GUncertain significance
Select item 44674	NM_001032283.3(TMPO):c.87C>T (p.Ala29=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 519145	NM_001032283.3(TMPO):c.88G>C (p.Gly30Arg)	TMPO, TMPO-AS1 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1766833	NM_001032283.3(TMPO):c.93G>A (p.Glu31=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2198476	NM_001032283.3(TMPO):c.105C>T (p.Asp35=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1788966	NM_001032283.3(TMPO):c.108G>C (p.Val36=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 508173	NM_001032283.3(TMPO):c.108G>T (p.Val36=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +1 more	GBenign/Likely benign
Select item 1560633	NM_001032283.3(TMPO):c.111C>T (p.Tyr37=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1920437	NM_001032283.3(TMPO):c.114C>A (p.Val38=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 450721	NM_001032283.3(TMPO):c.115C>T (p.Gln39Ter)	TMPO, TMPO-AS1 (Q39*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1739063	NM_001032283.3(TMPO):c.116A>G (p.Gln39Arg)	TMPO, TMPO-AS1 (Q39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 469126	NM_001032283.3(TMPO):c.117G>C (p.Gln39His)	TMPO, TMPO-AS1 (Q39H)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1749796	NM_001032283.3(TMPO):c.120C>T (p.Leu40=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1765032	NM_001032283.3(TMPO):c.126G>A (p.Leu42=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 659030	NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg)	TMPO-AS1, TMPO (Q43R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1770099	NM_001032283.3(TMPO):c.132C>T (p.His44=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 859918	NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe)	TMPO, TMPO-AS1 (L45F)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1435978	NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg)	TMPO, TMPO-AS1 (T46R)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2820208	NM_001032283.3(TMPO):c.150G>A (p.Arg50=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3369864	NM_001032283.3(TMPO):c.151C>T (p.Pro51Ser)	TMPO, TMPO-AS1 (P51S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1774591	NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)	TMPO, TMPO-AS1 (P51L)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 511913	NM_001032283.3(TMPO):c.153G>A (p.Pro51=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +2 more	GLikely benign
Select item 518840	NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)	TMPO, TMPO-AS1 (P52S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1303859	NM_001032283.3(TMPO):c.160C>T (p.Pro54Ser)	TMPO, TMPO-AS1 (P54S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 842091	NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)	TMPO, TMPO-AS1 (A55V)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2767578	NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)	TMPO, TMPO-AS1 (T57S)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2041234	NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)	TMPO, TMPO-AS1 (T57I)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1946065	NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)	TMPO, TMPO-AS1 (T57N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2871712	NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)	TMPO, TMPO-AS1 (N58K)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1779769	NM_001032283.3(TMPO):c.176G>T (p.Ser59Ile)	TMPO, TMPO-AS1 (S59I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1436162	NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr)	TMPO, TMPO-AS1 (S59T)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1158835	NM_001032283.3(TMPO):c.183G>A (p.Gly61=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1401256	NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu)	TMPO, TMPO-AS1 (P62L)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2911360	NM_001032283.3(TMPO):c.186C>T (p.Pro62=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 424504	NM_001032283.3(TMPO):c.187C>T (p.Pro63Ser)	TMPO, TMPO-AS1 (P63S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1782250	NM_001032283.3(TMPO):c.189G>T (p.Pro63=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1782244	NM_001032283.3(TMPO):c.189G>A (p.Pro63=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1343565	NM_001032283.3(TMPO):c.190G>A (p.Asp64Asn)	TMPO-AS1, TMPO (D64N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1782836	NM_001032283.3(TMPO):c.192C>T (p.Asp64=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2625259	NM_001032283.3(TMPO):c.198C>T (p.Ser66=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2065185	NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)	TMPO, TMPO-AS1 (E70D)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 469132	NM_001032283.3(TMPO):c.213C>G (p.Arg71=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 1135879	NM_001032283.3(TMPO):c.219C>G (p.Pro73=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 2920469	NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)	LOC130008520, TMPO +1 more (T74I)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 179033	NM_001032283.3(TMPO):c.225G>A (p.Pro75=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 514149	NM_001032283.3(TMPO):c.228C>T (p.Val76=)	TMPO, LOC130008520 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 2152399	NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)	LOC130008520, TMPO +1 more (L77F)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 2730922	NM_001032283.3(TMPO):c.231C>T (p.Leu77=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 202138	NM_001032283.3(TMPO):c.232G>C (p.Gly78Arg)	LOC130008520, TMPO +1 more (G78R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1511149	NM_001032283.3(TMPO):c.234C>G (p.Gly78=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 416241	NM_001032283.3(TMPO):c.234C>T (p.Gly78=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 1790266	NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)	TMPO, TMPO-AS1 +1 more (S79F)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 800206	NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg)	LOC130008520, TMPO +1 more (G80R)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1791001	NM_001032283.3(TMPO):c.241G>C (p.Ala81Pro)	LOC130008520, TMPO +1 more (A81P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1791293	NM_001032283.3(TMPO):c.243C>T (p.Ala81=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1791744	NM_001032283.3(TMPO):c.246C>G (p.Ala82=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 180547	NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)	LOC130008520, TMPO +1 more (A83V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1792172	NM_001032283.3(TMPO):c.249C>G (p.Ala83=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 389158	NM_001032283.3(TMPO):c.249C>T (p.Ala83=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 2832026	NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)	LOC130008520, TMPO +1 more (A84V)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1792667	NM_001032283.3(TMPO):c.252G>A (p.Ala84=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 179138	NM_001032283.3(TMPO):c.252G>T (p.Ala84=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 1792932	NM_001032283.3(TMPO):c.254G>C (p.Gly85Ala)	LOC130008520, TMPO +1 more (G85A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1011482	NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly)	LOC130008520, TMPO +1 more (R86G)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1793354	NM_001032283.3(TMPO):c.257G>A (p.Arg86Gln)	LOC130008520, TMPO +1 more (R86Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3223173	NM_001032283.3(TMPO):c.262C>A (p.Arg88=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 391907	NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln)	LOC130008520, TMPO +1 more (R88Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 263367	NM_001032283.3(TMPO):c.264A>C (p.Arg88=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1592495	NM_001032283.3(TMPO):c.267A>T (p.Ala89=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign

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