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

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

Search results

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	LOC130066758, LOC130066759 +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)	Bartsocas-Papas syndrome 1 +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 +2 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)	not provided +2 more	GBenign
Select item 2578118	NM_020639.3(RIPK4):c.1756G>A (p.Val586Ile)	RIPK4 (V586I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 340017	NM_020639.3(RIPK4):c.1617G>A (p.Thr539=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +2 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 provided +2 more	GBenign
Select item 261348	NM_020639.3(RIPK4):c.1476G>A (p.Ala492=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1 +2 more	GBenign
Select item 340020	NM_020639.3(RIPK4):c.1425G>A (p.Leu475=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +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)	Bartsocas-Papas syndrome 1 +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)	Bartsocas-Papas syndrome 1 +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)	Bartsocas-Papas syndrome 1 +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)	Inborn genetic diseases +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)	not provided +1 more	GBenign/Likely benign
Select item 340029	NM_020639.3(RIPK4):c.630G>C (p.Ala210=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +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)	not provided +1 more	GBenign/Likely benign
Select item 340037	NM_020639.3(RIPK4):c.35C>G (p.Ala12Gly)	RIPK4 (A12G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 340038	NM_020639.3(RIPK4):c.7G>A (p.Gly3Ser)	RIPK4 (G3S)	Single nucleotide variant (missense variant)	not provided +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 74