TFPI[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 3325643	NM_006287.6(TFPI):c.865A>C (p.Lys289Gln)	CALCRL-AS1, TFPI (K289Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489839	NM_006287.6(TFPI):c.861A>C (p.Arg287Ser)	CALCRL-AS1, TFPI (R287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386004	NM_006287.6(TFPI):c.854G>C (p.Arg285Thr)	CALCRL-AS1, TFPI (R285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176556	NM_006287.6(TFPI):c.814A>G (p.Ile272Val)	CALCRL-AS1, TFPI (I272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176555	NM_006287.6(TFPI):c.728G>A (p.Arg243His)	CALCRL-AS1, TFPI (R243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176554	NM_006287.6(TFPI):c.716T>C (p.Ile239Thr)	CALCRL-AS1, TFPI (I239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471857	NM_006287.6(TFPI):c.637G>A (p.Gly213Ser)	CALCRL-AS1, TFPI (G213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786733	NM_006287.6(TFPI):c.628+8T>C	CALCRL-AS1, TFPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775182	NM_006287.6(TFPI):c.440C>A (p.Thr147Lys)	CALCRL-AS1, TFPI (T147K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3325644	NM_006287.6(TFPI):c.324T>A (p.Asn108Lys)	CALCRL-AS1, TFPI (N108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791880	NM_006287.6(TFPI):c.319+10T>C	CALCRL-AS1, TFPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2247864	NM_006287.6(TFPI):c.140T>C (p.Leu47Pro)	CALCRL-AS1, TFPI (L47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684897	GRCh37/hg19 2q32.1(chr2:188141690-188459827)x1	CALCRL, TFPI	Copy number loss	not provided	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1809170	GRCh37/hg19 2q32.1(chr2:187466416-188487473)x3	CALCRL, FAM171B +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 814354	GRCh37/hg19 2q32.1(chr2:188321109-188696676)x1	TFPI	Copy number loss	not provided	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 687001	GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3	CALCRL, FAM171B +5 more	Copy number gain	not provided	GUncertain significance
Select item 685156	GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1	CALCRL, FAM171B +4 more	Copy number loss	not provided	GUncertain significance
Select item 635896	Single allele	CALCRL, FAM171B +5 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 41