RIPK4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
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 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 151380	GRCh38/hg38 21q22.3(chr21:41702859-41855368)x3	LINC00112, LINC00479 +11 more	Copy number gain	See cases	GUncertain significance
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
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

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