RIPK4[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 265

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 899294	NM_020639.3(RIPK4):c.*1420T>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 339985	NM_020639.3(RIPK4):c.*1361T>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1 +1 more	GUncertain significance
Select item 339986	NM_020639.3(RIPK4):c.*1248C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 339987	NM_020639.3(RIPK4):c.*1234G>A	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 899297	NM_020639.3(RIPK4):c.*1203A>T	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 895205	NM_020639.3(RIPK4):c.*1172T>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 895207	NM_020639.3(RIPK4):c.*1117T>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 339988	NM_020639.3(RIPK4):c.*1081C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 339989	NM_020639.3(RIPK4):c.*1039dup	RIPK4	Duplication (3 prime UTR variant)	Popliteal pterygium syndrome	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 339990	NM_020639.3(RIPK4):c.*983G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 339991	NM_020639.3(RIPK4):c.*978C>G	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 896620	NM_020639.3(RIPK4):c.*824C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
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 339992	NM_020639.3(RIPK4):c.782_783dup	RIPK4	Duplication (3 prime UTR variant)	Popliteal pterygium syndrome	GBenign
Select item 339993	NM_020639.3(RIPK4):c.*748A>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GLikely benign
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 339994	NM_020639.3(RIPK4):c.*741G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 339995	NM_020639.3(RIPK4):c.*729C>T	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 339996	NM_020639.3(RIPK4):c.*715A>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GLikely benign
Select item 339997	NM_020639.3(RIPK4):c.*707G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GBenign
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 898252	NM_020639.3(RIPK4):c.*637G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 339998	NM_020639.3(RIPK4):c.*578C>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GLikely benign
Select item 339999	NM_020639.3(RIPK4):c.*560A>G	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1 +1 more	GBenign
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 898254	NM_020639.3(RIPK4):c.*416C>T	RIPK4	Single nucleotide variant (3 prime UTR 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 340000	NM_020639.3(RIPK4):c.*281G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	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 899358	NM_020639.3(RIPK4):c.*273A>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
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 899359	NM_020639.3(RIPK4):c.*215G>C	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GBenign
Select item 340003	NM_020639.3(RIPK4):c.*215G>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 340004	NM_020639.3(RIPK4):c.*201C>T	RIPK4	Single nucleotide variant (3 prime UTR 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 895259	NM_020639.3(RIPK4):c.*161G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
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 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 340007	NM_020639.3(RIPK4):c.*73G>A	RIPK4	Single nucleotide variant (3 prime UTR 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 340008	NM_020639.3(RIPK4):c.*60G>A	RIPK4	Single nucleotide variant (3 prime UTR variant)	Bartsocas-Papas syndrome 1	GUncertain significance
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 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 3049637	NM_020639.3(RIPK4):c.2339G>A (p.Arg780Gln)	RIPK4 (R780Q)	Single nucleotide variant (missense variant)	RIPK4-related disorder	GLikely 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 740210	NM_020639.3(RIPK4):c.2330C>T (p.Thr777Met)	RIPK4 (T777M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 1301199	NM_020639.3(RIPK4):c.2318G>T (p.Gly773Val)	RIPK4 (G773V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2589466	NM_020639.3(RIPK4):c.2312G>T (p.Gly771Val)	RIPK4 (G771V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034567	NM_020639.3(RIPK4):c.2307G>A (p.Gln769=)	RIPK4	Single nucleotide variant (synonymous variant)	RIPK4-related disorder	GLikely benign
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 2294941	NM_020639.3(RIPK4):c.2294G>A (p.Ser765Asn)	RIPK4 (S765N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 340011	NM_020639.3(RIPK4):c.2250G>A (p.Thr750=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GLikely benign
Select item 2485052	NM_020639.3(RIPK4):c.2242G>A (p.Ala748Thr)	RIPK4 (A748T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790227	NM_020639.3(RIPK4):c.2214G>A (p.Ala738=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1336240	NM_020639.3(RIPK4):c.2211C>T (p.Ser737=)	RIPK4	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2520618	NM_020639.3(RIPK4):c.2194G>A (p.Asp732Asn)	RIPK4 (D732N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749966	NM_020639.3(RIPK4):c.2187C>T (p.Asp729=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 340013	NM_020639.3(RIPK4):c.2139C>T (p.His713=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
Select item 2250061	NM_020639.3(RIPK4):c.2134G>A (p.Ala712Thr)	RIPK4 (A712T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154555	NM_020639.3(RIPK4):c.2126T>C (p.Leu709Pro)	RIPK4 (L709P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509288	NM_020639.3(RIPK4):c.2114C>T (p.Thr705Met)	RIPK4 (T705M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 782171	NM_020639.3(RIPK4):c.2070C>T (p.Val690=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 3314525	NM_020639.3(RIPK4):c.2036G>A (p.Arg679His)	RIPK4 (R679H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047909	NM_020639.3(RIPK4):c.2016C>T (p.Thr672=)	RIPK4	Single nucleotide variant (synonymous variant)	RIPK4-related disorder	GLikely 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 749819	NM_020639.3(RIPK4):c.2007C>T (p.Asp669=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 897150	NM_020639.3(RIPK4):c.1995C>T (p.Ala665=)	RIPK4	Single nucleotide variant (synonymous variant)	Bartsocas-Papas syndrome 1	GUncertain significance
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 3314522	NM_020639.3(RIPK4):c.1966C>T (p.Leu656Phe)	RIPK4 (L656F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3314527	NM_020639.3(RIPK4):c.1930G>A (p.Ala644Thr)	RIPK4 (A644T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744263	NM_020639.3(RIPK4):c.1926C>T (p.His642=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 191165	NM_020639.3(RIPK4):c.1884C>T (p.Ser628=)	RIPK4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 2542300	NM_020639.3(RIPK4):c.1846C>T (p.His616Tyr)	RIPK4 (H616Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031359	NM_020639.3(RIPK4):c.1842C>T (p.Arg614=)	RIPK4	Single nucleotide variant (synonymous variant)	RIPK4-related disorder	GLikely benign
Select item 3154553	NM_020639.3(RIPK4):c.1841G>A (p.Arg614His)	RIPK4 (R614H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037840	NM_020639.3(RIPK4):c.1833C>T (p.Ala611=)	RIPK4	Single nucleotide variant (synonymous variant)	RIPK4-related disorder	GLikely benign
Select item 3030402	NM_020639.3(RIPK4):c.1833C>G (p.Ala611=)	RIPK4	Single nucleotide variant (synonymous variant)	RIPK4-related disorder	GLikely benign
Select item 784555	NM_020639.3(RIPK4):c.1803G>A (p.Thr601=)	RIPK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3154552	NM_020639.3(RIPK4):c.1777C>T (p.Pro593Ser)	RIPK4 (P593S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3