"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "THSD4"[gen - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2645497	NM_001394532.1(THSD4):c.-80+14235G>A	CT62, THSD4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2645498	NM_001394532.1(THSD4):c.-80+14250T>C	CT62, THSD4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2645499	NM_024817.3(THSD4):c.554C>T (p.Thr185Met)	THSD4 (T185M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645500	NM_024817.3(THSD4):c.666G>A (p.Gly222=)	THSD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3026244	NM_024817.3(THSD4):c.714G>A (p.Ala238=)	THSD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578743	NM_024817.3(THSD4):c.1153-113066G>A	THSD4 (A19T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1879297	NM_024817.3(THSD4):c.1183G>A (p.Asp395Asn)	THSD4 (D35N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign
Select item 3025639	NM_024817.3(THSD4):c.1226C>A (p.Thr409Lys)	THSD4 (T409K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645501	NM_024817.3(THSD4):c.1575C>T (p.Tyr525=)	THSD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711386	NM_024817.3(THSD4):c.1701C>A (p.Asn567Lys)	THSD4 (N207K +1 more)	Single nucleotide variant (missense variant)	THSD4-related condition +1 more	GLikely benign
Select item 2691041	NM_024817.3(THSD4):c.1829C>T (p.Pro610Leu)	THSD4 (P250L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2317608	NM_024817.3(THSD4):c.1850G>A (p.Arg617Gln)	THSD4 (R257Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2578744	NM_024817.3(THSD4):c.1892C>T (p.Thr631Met)	THSD4 (T271M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645502	NM_024817.3(THSD4):c.1893G>A (p.Thr631=)	THSD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498618	NM_024817.3(THSD4):c.1943G>C (p.Ser648Thr)	THSD4 (S288T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2645503	NM_024817.3(THSD4):c.2036+7A>G	THSD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2645504	NM_024817.3(THSD4):c.2708G>A (p.Ser903Asn)	THSD4 (S543N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2645505	NM_024817.3(THSD4):c.2769+3A>G	THSD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2498619	NM_024817.3(THSD4):c.2830_2835del (p.Met944_Thr945del)	THSD4	Deletion (inframe_deletion)	not provided +1 more	GBenign
Select item 2645506	NM_024817.3(THSD4):c.3035C>T (p.Thr1012Met)	THSD4 (T1012M +1 more)	Single nucleotide variant (missense variant)	THSD4-related condition +1 more	GBenign/Likely benign
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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Items: 22