Related gene-specific medical variations for Gene (Select 10203) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136670	NM_005795.6(CALCRL):c.892A>G (p.Ile298Val)	CALCRL, CALCRL-AS1 (I298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136669	NM_005795.6(CALCRL):c.78G>C (p.Glu26Asp)	CALCRL, CALCRL-AS1 (E26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136668	NM_005795.6(CALCRL):c.187G>A (p.Val63Ile)	CALCRL, CALCRL-AS1 (V63I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136667	NM_005795.6(CALCRL):c.1240G>A (p.Glu414Lys)	CALCRL, CALCRL-AS1 (E414K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681696	NM_005795.6(CALCRL):c.408+4T>C	CALCRL, CALCRL-AS1	Single nucleotide variant (intron variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2595633	NM_005795.6(CALCRL):c.589G>A (p.Ala197Thr)	CALCRL, CALCRL-AS1 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544189	NM_005795.6(CALCRL):c.600C>G (p.Asn200Lys)	CALCRL, CALCRL-AS1 (N200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533700	NM_005795.6(CALCRL):c.1066C>A (p.Pro356Thr)	CALCRL, CALCRL-AS1 (P356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527781	NM_005795.6(CALCRL):c.415C>G (p.Leu139Val)	CALCRL, CALCRL-AS1 (L139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484729	NM_005795.6(CALCRL):c.457A>G (p.Ile153Val)	CALCRL, CALCRL-AS1 (I153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393068	NM_005795.6(CALCRL):c.940C>T (p.Arg314Cys)	CALCRL, CALCRL-AS1 (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387956	NM_005795.6(CALCRL):c.600C>A (p.Asn200Lys)	CALCRL, CALCRL-AS1 (N200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377736	NM_005795.6(CALCRL):c.1256C>T (p.Ala419Val)	CALCRL, CALCRL-AS1 (A419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311065	NM_005795.6(CALCRL):c.62C>T (p.Thr21Ile)	CALCRL, CALCRL-AS1 (T21I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 789709	NM_005795.6(CALCRL):c.777C>T (p.Gly259=)	CALCRL, CALCRL-AS1	Single nucleotide variant (synonymous 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 394205	GRCh37/hg19 2q32.1(chr2:187976139-188252370)x3	CALCRL	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 20