TFPI2[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 148490	GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1	BET1, BET1-AS1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 2456660	NM_006528.4(TFPI2):c.691C>T (p.Arg231Trp)	TFPI2 (R231W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712709	NM_006528.4(TFPI2):c.682C>T (p.Arg228Trp)	TFPI2 (R217W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3176559	NM_006528.4(TFPI2):c.656C>T (p.Pro219Leu)	TFPI2 (P219L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358814	NM_006528.4(TFPI2):c.565A>G (p.Thr189Ala)	TFPI2 (T178A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325646	NM_006528.4(TFPI2):c.463C>T (p.Pro155Ser)	TFPI2 (P155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325645	NM_006528.4(TFPI2):c.413G>T (p.Arg138Met)	TFPI2 (R127M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730260	NM_006528.4(TFPI2):c.395G>A (p.Arg132Gln)	TFPI2 (R121Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2352692	NM_006528.4(TFPI2):c.375C>A (p.Phe125Leu)	TFPI2 (F125L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176558	NM_006528.4(TFPI2):c.353G>C (p.Ser118Thr)	TFPI2 (S107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176557	NM_006528.4(TFPI2):c.338A>T (p.Tyr113Phe)	TFPI2 (Y113F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730261	NM_006528.4(TFPI2):c.271+8C>T	TFPI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2298523	NM_006528.4(TFPI2):c.268G>A (p.Glu90Lys)	TFPI2 (E90K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730262	NM_006528.4(TFPI2):c.262A>C (p.Arg88=)	TFPI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2373185	NM_006528.4(TFPI2):c.233C>G (p.Thr78Ser)	TFPI2 (T67S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176560	NM_006528.4(TFPI2):c.67G>A (p.Asp23Asn)	TFPI2 (D23N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613781	NM_006528.4(TFPI2):c.29C>G (p.Ser10Trp)	TFPI2 (S10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684495	GRCh37/hg19 7q21.3(chr7:93307646-93637358)x3	BET1, GNG11 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1808255	GRCh37/hg19 7q21.3(chr7:93325684-93594362)x3	GNG11, GNGT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 979633	GRCh37/hg19 7q21.3(chr7:93209718-94202220)x3	BET1, GNG11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 976777	GRCh37/hg19 7q21.3(chr7:93516132-95668733)	ASB4, BET1 +13 more	Copy number loss	Myoclonic dystonia 11	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686381	GRCh37/hg19 7q21.3(chr7:93332477-93546008)x3	GNGT1, TFPI2	Copy number gain	not provided	GUncertain significance
Select item 563412	GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1	C7orf76, CASD1 +15 more	Copy number loss	not provided	GPathogenic
Select item 563315	GRCh37/hg19 7q21.3(chr7:93431547-93615825)x1	TFPI2, GNG11 +1 more	Copy number loss	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 38