"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PROKR2"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1012475	NM_144773.4(PROKR2):c.1058G>A (p.Arg353His)	PROKR2 (R353H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338854	NM_144773.4(PROKR2):c.991G>A (p.Val331Met)	PROKR2 (V331M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2058853	NM_144773.4(PROKR2):c.819G>T (p.Thr273=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3449	NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)	PROKR2 (L173R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2741590	NM_144773.4(PROKR2):c.472G>A (p.Val158Ile)	PROKR2 (V158I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 818210	NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys)	PROKR2 (R135C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 695243	NM_144773.4(PROKR2):c.375C>T (p.His125=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2652195	NM_144773.4(PROKR2):c.271C>T (p.Leu91Phe)	PROKR2 (L91F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3451	NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	PROKR2 (R85H)	Single nucleotide variant (missense variant)	PROKR2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 338865	NM_144773.4(PROKR2):c.151G>A (p.Ala51Thr)	PROKR2 (A51T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic