"GeneDx"[submitter] AND "RIPK4"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 151380	GRCh38/hg38 21q22.3(chr21:41702859-41855368)x3	LINC00112, LINC00479 +11 more	Copy number gain	See cases	GUncertain significance
Select item 340001	NM_020639.3(RIPK4):c.*275T>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign/Likely benign
Select item 340002	NM_020639.3(RIPK4):c.*219T>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign/Likely benign
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 1210747	NM_020639.3(RIPK4):c.*13G>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 781520	NM_020639.3(RIPK4):c.2352C>T (p.Thr784=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1312789	NM_020639.3(RIPK4):c.2332C>T (p.Leu778Phe)	RIPK4 (L778F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261351	NM_020639.3(RIPK4):c.2331G>A (p.Thr777=)	RIPK4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1301199	NM_020639.3(RIPK4):c.2318G>T (p.Gly773Val)	RIPK4 (G773V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235557	NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser)	RIPK4 (P701S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 261350	NM_020639.3(RIPK4):c.1996A>G (p.Met666Val)	RIPK4 (M666V)	Single nucleotide variant (missense variant)	Bartsocas-Papas syndrome 1 +2 more	GBenign
Select item 2578118	NM_020639.3(RIPK4):c.1756G>A (p.Val586Ile)	RIPK4 (V586I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 340018	NM_020639.3(RIPK4):c.1587G>A (p.Ser529=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 261349	NM_020639.3(RIPK4):c.1548C>T (p.Asp516=)	RIPK4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261348	NM_020639.3(RIPK4):c.1476G>A (p.Ala492=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1310640	NM_020639.3(RIPK4):c.1417A>G (p.Thr473Ala)	RIPK4 (T473A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 261347	NM_020639.3(RIPK4):c.1203C>T (p.Gly401=)	RIPK4	Single nucleotide variant (synonymous variant)	not specified +2 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 1214473	NM_020639.3(RIPK4):c.1196-99T>A	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194467	NM_020639.3(RIPK4):c.1196-117C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270689	NM_020639.3(RIPK4):c.1196-177C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246365	NM_020639.3(RIPK4):c.1196-199C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190603	NM_020639.3(RIPK4):c.1196-253C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely 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 1301198	NM_020639.3(RIPK4):c.1049C>T (p.Pro350Leu)	RIPK4 (P350L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261346	NM_020639.3(RIPK4):c.1005G>T (p.Leu335=)	RIPK4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1281836	NM_020639.3(RIPK4):c.937-19C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1274383	NM_020639.3(RIPK4):c.937-250C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236849	NM_020639.3(RIPK4):c.936+276G>A	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200209	NM_020639.3(RIPK4):c.936+241A>G	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187181	NM_020639.3(RIPK4):c.936+133C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288005	NM_020639.3(RIPK4):c.936+95A>G	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203269	NM_020639.3(RIPK4):c.936+85C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210660	NM_020639.3(RIPK4):c.833-194A>G	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178887	NM_020639.3(RIPK4):c.833-319C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197853	NM_020639.3(RIPK4):c.832+214C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191373	NM_020639.3(RIPK4):c.832+178dup	RIPK4	Duplication (intron variant)	not provided	GLikely benign
Select item 1241927	NM_020639.3(RIPK4):c.832+147A>C	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1311181	NM_020639.3(RIPK4):c.739G>A (p.Val247Met)	RIPK4 (V247M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1187860	NM_020639.3(RIPK4):c.721C>T (p.Arg241Cys)	RIPK4 (R241C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208311	NM_020639.3(RIPK4):c.674-84C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277688	NM_020639.3(RIPK4):c.674-124T>C	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200630	NM_020639.3(RIPK4):c.674-135T>G	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276970	NM_020639.3(RIPK4):c.673+269C>G	RIPK4	Single nucleotide variant (intron variant)	not provided	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 1212689	NM_020639.3(RIPK4):c.623+139C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675267	NM_020639.3(RIPK4):c.623+34T>G	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178252	NM_020639.3(RIPK4):c.475-225C>T	RIPK4	Single nucleotide variant (intron variant)	not provided	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 340032	NM_020639.3(RIPK4):c.327T>C (p.Ala109=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1300854	NM_020639.3(RIPK4):c.183-94C>G	RIPK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249242	NM_020639.3(RIPK4):c.183-148G>A	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181629	NM_020639.3(RIPK4):c.182+264_182+274del	RIPK4	Microsatellite (intron variant)	not provided	GBenign
Select item 1227546	NM_020639.3(RIPK4):c.182+169G>T	RIPK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231074	NM_020639.3(RIPK4):c.182+160T>G	RIPK4	Single nucleotide variant (intron variant)	not provided	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 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 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 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 1276693	NC_000021.9:g.41767119G>A	RIPK4	Single nucleotide variant	not provided	GBenign
Select item 1191270	NC_000021.9:g.41767122C>G	RIPK4	Single nucleotide variant	not provided	GLikely benign
Select item 1270705	NC_000021.9:g.41767238A>C	RIPK4	Single nucleotide variant	not provided	GBenign
Select item 1185817	NC_000021.9:g.41767408del	RIPK4	Deletion	not provided	GLikely benign
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

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Items: 74