Related gene-specific medical variations for Gene (Select 105373786) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2595633	NM_005795.6(CALCRL):c.589G>A (p.Ala197Thr)	CALCRL, CALCRL-AS1 (A197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544189	NM_005795.6(CALCRL):c.600C>G (p.Asn200Lys)	CALCRL, CALCRL-AS1 (N200K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533700	NM_005795.6(CALCRL):c.1066C>A (p.Pro356Thr)	CALCRL, CALCRL-AS1 (P356T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527781	NM_005795.6(CALCRL):c.415C>G (p.Leu139Val)	CALCRL, CALCRL-AS1 (L139V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489839	NM_006287.6(TFPI):c.861A>C (p.Arg287Ser)	CALCRL-AS1, TFPI (R287S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484729	NM_005795.6(CALCRL):c.457A>G (p.Ile153Val)	CALCRL, CALCRL-AS1 (I153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471857	NM_006287.6(TFPI):c.637G>A (p.Gly213Ser)	CALCRL-AS1, TFPI (G213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393068	NM_005795.6(CALCRL):c.940C>T (p.Arg314Cys)	CALCRL, CALCRL-AS1 (R314C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387956	NM_005795.6(CALCRL):c.600C>A (p.Asn200Lys)	CALCRL, CALCRL-AS1 (N200K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386004	NM_006287.6(TFPI):c.854G>C (p.Arg285Thr)	CALCRL-AS1, TFPI (R285T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377736	NM_005795.6(CALCRL):c.1256C>T (p.Ala419Val)	CALCRL-AS1, CALCRL (A419V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311065	NM_005795.6(CALCRL):c.62C>T (p.Thr21Ile)	CALCRL, CALCRL-AS1 (T21I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2247864	NM_006287.6(TFPI):c.140T>C (p.Leu47Pro)	CALCRL-AS1, TFPI (L47P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1192648	NM_005795.6(CALCRL):c.782-58T>C	CALCRL, CALCRL-AS1	Single nucleotide variant (intron variant)	Lymphatic malformation 8	GBenign
Select item 1192647	NM_005795.6(CALCRL):c.1128+34A>G	CALCRL, CALCRL-AS1	Single nucleotide variant (intron variant)	Lymphatic malformation 8	GBenign
Select item 812514	NM_005795.6(CALCRL):c.611TAG[1] (p.Val205del)	CALCRL, CALCRL-AS1 (V205del)	Microsatellite (inframe_deletion)	Lymphatic malformation 8	GPathogenic
Select item 791880	NM_006287.6(TFPI):c.319+10T>C	CALCRL-AS1, TFPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789709	NM_005795.6(CALCRL):c.777C>T (p.Gly259=)	CALCRL, CALCRL-AS1	Single nucleotide variant (synonymous 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 778263	NM_005795.6(CALCRL):c.1292G>T (p.Gly431Val)	CALCRL, CALCRL-AS1 (G431V)	Single nucleotide variant (missense 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 21