ClinVar for MedGen (Select 337894) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506358	NM_020639.3(RIPK4):c.467A>C (p.His156Pro)	RIPK4 (H156P)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 1285557	NM_020639.3(RIPK4):c.722G>A (p.Arg241His)	RIPK4 (R241H)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GLikely pathogenic
Select item 1270877	NM_020639.3(RIPK4):c.937-45T>G	RIPK4	Single nucleotide variant (intron variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign
Select item 1261628	NM_020639.3(RIPK4):c.1196-43A>G	RIPK4	Single nucleotide variant (intron variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign
Select item 1033541	NM_020639.3(RIPK4):c.1511A>G (p.Gln504Arg)	RIPK4 (Q504R)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 899361	NM_020639.3(RIPK4):c.*173C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 899360	NM_020639.3(RIPK4):c.*204G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 899359	NM_020639.3(RIPK4):c.*215G>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GBenign
Select item 899358	NM_020639.3(RIPK4):c.*273A>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 899298	NM_020639.3(RIPK4):c.*1192A>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 899297	NM_020639.3(RIPK4):c.*1203A>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 899296	NM_020639.3(RIPK4):c.*1206A>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 899295	NM_020639.3(RIPK4):c.*1376C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 899294	NM_020639.3(RIPK4):c.*1420T>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898403	NM_020639.3(RIPK4):c.504C>T (p.Asn168=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898402	NM_020639.3(RIPK4):c.755C>T (p.Pro252Leu)	RIPK4 (P252L)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898401	NM_020639.3(RIPK4):c.812G>A (p.Arg271Gln)	RIPK4 (R271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898318	NM_020639.3(RIPK4):c.1561C>T (p.Arg521Trp)	RIPK4 (R521W)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898317	NM_020639.3(RIPK4):c.1694T>G (p.Leu565Arg)	RIPK4 (L565R)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898316	NM_020639.3(RIPK4):c.1779G>A (p.Pro593=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898315	NM_020639.3(RIPK4):c.1862G>A (p.Arg621His)	RIPK4 (R621H)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898255	NM_020639.3(RIPK4):c.*298A>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898254	NM_020639.3(RIPK4):c.*416C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898253	NM_020639.3(RIPK4):c.*550C>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GBenign
Select item 898252	NM_020639.3(RIPK4):c.*637G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898251	NM_020639.3(RIPK4):c.*701A>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 898191	NM_020639.3(RIPK4):c.*1447A>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 897228	NM_020639.3(RIPK4):c.899A>T (p.Asp300Val)	RIPK4 (D300V)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 897227	NM_020639.3(RIPK4):c.1039G>A (p.Val347Ile)	RIPK4 (V347I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 897226	NM_020639.3(RIPK4):c.1079C>T (p.Ser360Phe)	RIPK4 (S360F)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 897225	NM_020639.3(RIPK4):c.1106A>G (p.Lys369Arg)	RIPK4 (K369R)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 897150	NM_020639.3(RIPK4):c.1995C>T (p.Ala665=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 897149	NM_020639.3(RIPK4):c.2001C>G (p.Thr667=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 897148	NM_020639.3(RIPK4):c.2041G>A (p.Gly681Arg)	RIPK4 (G681R)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 896810	NM_020639.3(RIPK4):c.59G>A (p.Gly20Asp)	RIPK4 (G20D)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 896809	NM_020639.3(RIPK4):c.117G>A (p.Val39=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign/Likely benign
Select item 896752	NM_020639.3(RIPK4):c.1195+8G>C	RIPK4	Single nucleotide variant (intron variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 896622	NM_020639.3(RIPK4):c.*747T>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign
Select item 896621	NM_020639.3(RIPK4):c.*823A>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 896620	NM_020639.3(RIPK4):c.*824C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895414	NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser)	RIPK4 (G93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 895413	NM_020639.3(RIPK4):c.377C>T (p.Ala126Val)	RIPK4 (A126V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 895412	NM_020639.3(RIPK4):c.474+14C>T	RIPK4	Single nucleotide variant (intron variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895339	NM_020639.3(RIPK4):c.1453G>A (p.Gly485Ser)	RIPK4 (G485S)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895338	NM_020639.3(RIPK4):c.1477C>T (p.Arg493Trp)	RIPK4 (R493W)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895260	NM_020639.3(RIPK4):c.*72C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895259	NM_020639.3(RIPK4):c.*161G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895209	NM_020639.3(RIPK4):c.*961G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895208	NM_020639.3(RIPK4):c.*1025G>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 895207	NM_020639.3(RIPK4):c.*1117T>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895206	NM_020639.3(RIPK4):c.*1151G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 895205	NM_020639.3(RIPK4):c.*1172T>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 816789	NM_020639.3(RIPK4):c.1681G>A (p.Val561Met)	RIPK4 (V561M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781521	NM_020639.3(RIPK4):c.2277C>T (p.Ala759=)	RIPK4	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 755418	NM_020639.3(RIPK4):c.2296C>G (p.Leu766Val)	RIPK4 (L766V)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1 +1 more	GLikely benign
Select item 748316	NM_020639.3(RIPK4):c.1344C>T (p.Ala448=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 746692	NM_020639.3(RIPK4):c.1100G>T (p.Ser367Ile)	RIPK4 (S367I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 746355	NM_020639.3(RIPK4):c.1137C>T (p.Ser379=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 736336	NM_020639.3(RIPK4):c.2323G>A (p.Ala775Thr)	RIPK4 (A775T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 734574	NM_020639.3(RIPK4):c.252G>A (p.Val84=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 731263	NM_020639.3(RIPK4):c.303G>A (p.Thr101=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 718327	NM_020639.3(RIPK4):c.1119G>T (p.Gly373=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 716721	NM_020639.3(RIPK4):c.832+2T>C	RIPK4	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585265	NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter)	RIPK4 (E359*)	Duplication (nonsense)	Bartsocas-Papas syndrome 1	GPathogenic
Select item 561098	NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp)	RIPK4 (G163D)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340038	NM_020639.3(RIPK4):c.7G>A (p.Gly3Ser)	RIPK4 (G3S)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign/Likely benign
Select item 340037	NM_020639.3(RIPK4):c.35C>G (p.Ala12Gly)	RIPK4 (A12G)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign
Select item 340036	NM_020639.3(RIPK4):c.159G>A (p.Ser53=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 340035	NM_020639.3(RIPK4):c.267C>T (p.Arg89=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 340034	NM_020639.3(RIPK4):c.271C>A (p.Pro91Thr)	RIPK4 (P91T)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340033	NM_020639.3(RIPK4):c.302C>T (p.Thr101Met)	RIPK4 (T101M)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340032	NM_020639.3(RIPK4):c.327T>C (p.Ala109=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 340031	NM_020639.3(RIPK4):c.360A>C (p.Arg120=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign
Select item 340030	NM_020639.3(RIPK4):c.630G>A (p.Ala210=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign/Likely benign
Select item 340029	NM_020639.3(RIPK4):c.630G>C (p.Ala210=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign
Select item 340028	NM_020639.3(RIPK4):c.779G>A (p.Arg260His)	RIPK4 (R260H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 340027	NM_020639.3(RIPK4):c.819G>A (p.Arg273=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 340026	NM_020639.3(RIPK4):c.936+6G>A	RIPK4	Single nucleotide variant (intron variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340025	NM_020639.3(RIPK4):c.959G>A (p.Arg320Gln)	RIPK4 (R320Q)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1 +2 more	GUncertain significance
Select item 340024	NM_020639.3(RIPK4):c.1164G>A (p.Ser388=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340023	NM_020639.3(RIPK4):c.1193G>T (p.Ser398Ile)	RIPK4 (S398I)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340022	NM_020639.3(RIPK4):c.1243G>A (p.Val415Met)	RIPK4 (V415M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 340021	NM_020639.3(RIPK4):c.1311C>T (p.Ser437=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 340020	NM_020639.3(RIPK4):c.1425G>A (p.Leu475=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign/Likely benign
Select item 340019	NM_020639.3(RIPK4):c.1530T>C (p.Phe510=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340018	NM_020639.3(RIPK4):c.1587G>A (p.Ser529=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 340017	NM_020639.3(RIPK4):c.1617G>A (p.Thr539=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 340016	NM_020639.3(RIPK4):c.1941G>A (p.Thr647=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 340015	NM_020639.3(RIPK4):c.1980C>T (p.Gly660=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 340014	NM_020639.3(RIPK4):c.2008G>A (p.Gly670Ser)	RIPK4 (G670S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 340013	NM_020639.3(RIPK4):c.2139C>T (p.His713=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340012	NM_020639.3(RIPK4):c.2145C>T (p.His715=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 340011	NM_020639.3(RIPK4):c.2250G>A (p.Thr750=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GLikely benign
Select item 340010	NM_020639.3(RIPK4):c.2325C>T (p.Ala775=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 340009	NM_020639.3(RIPK4):c.*59C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340008	NM_020639.3(RIPK4):c.*60G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340007	NM_020639.3(RIPK4):c.*73G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340006	NM_020639.3(RIPK4):c.*90T>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign
Select item 340005	NM_020639.3(RIPK4):c.*142G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 340004	NM_020639.3(RIPK4):c.*201C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance

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