TGFB2-OT1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 60081	GRCh38/hg38 1q41(chr1:216518607-219827290)x1	ESRRG, GPATCH2 +55 more	Copy number loss	See cases	GPathogenic
Select item 60082	GRCh38/hg38 1q41(chr1:217452423-218818361)x1	GPATCH2, LINC00210 +22 more	Copy number loss	See cases	GPathogenic
Select item 154219	GRCh38/hg38 1q41(chr1:217558925-218732002)x3	GPATCH2, LINC00210 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57198	GRCh38/hg38 1q41(chr1:218321722-218961624)x1	LINC01710, LINC02869 +9 more	Copy number loss	See cases	GUncertain significance
Select item 875623	NM_003238.6(TGFB2):c.*1271A>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295513	NM_003238.6(TGFB2):c.*1273T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295514	NM_003238.6(TGFB2):c.*1310C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295515	NM_003238.6(TGFB2):c.*1315T>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295516	NM_003238.6(TGFB2):c.*1338T>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 876621	NM_003238.6(TGFB2):c.*1389C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 876622	NM_003238.6(TGFB2):c.*1428T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 876623	NM_003238.6(TGFB2):c.*1431A>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295517	NM_003238.6(TGFB2):c.*1443T>A	TGFB2-OT1, TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295518	NM_003238.6(TGFB2):c.*1502T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295519	NM_003238.6(TGFB2):c.*1585C>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295520	NM_003238.6(TGFB2):c.*1615T>C	TGFB2-OT1, TGFB2	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295521	NM_003238.6(TGFB2):c.*1624T>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295522	NM_003238.6(TGFB2):c.*1684G>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 873770	NM_003238.6(TGFB2):c.*1871C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 873771	NM_003238.6(TGFB2):c.*2007C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295523	NM_003238.6(TGFB2):c.*2008G>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295524	NM_003238.6(TGFB2):c.*2053G>A	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295525	NM_003238.6(TGFB2):c.*2089A>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295526	NM_003238.6(TGFB2):c.*2108G>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295527	NM_003238.6(TGFB2):c.*2188T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295528	NM_003238.6(TGFB2):c.*2269T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295531	NM_003238.6(TGFB2):c.2359_2361del	TGFB2-OT1, TGFB2	Deletion (non-coding transcript variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295530	NM_003238.6(TGFB2):c.2360_2361del	TGFB2, TGFB2-OT1	Deletion (non-coding transcript variant +1 more)	Loeys-Dietz syndrome	GBenign
Select item 295529	NM_003238.6(TGFB2):c.*2361del	TGFB2, TGFB2-OT1	Deletion (non-coding transcript variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 874726	NM_003238.6(TGFB2):c.*2352T>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 874727	NM_003238.6(TGFB2):c.*2421G>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295532	NM_003238.6(TGFB2):c.*2431C>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 874728	NM_003238.6(TGFB2):c.*2496A>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875666	NM_003238.6(TGFB2):c.*2509G>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295533	NM_003238.6(TGFB2):c.*2564A>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295534	NM_003238.6(TGFB2):c.*2617T>C	TGFB2-OT1, TGFB2	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance

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Items: 47