Related gene-specific medical variations for Gene (Select 7035) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 814354	GRCh37/hg19 2q32.1(chr2:188321109-188696676)x1	TFPI	Copy number loss	not provided	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 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