RWDD2B[gene] - ClinVar

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Items: 83

	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 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	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 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
Select item 1707470	Single allele	CCT8, LINC00161 +29 more	Duplication	not specified	GUncertain significance
Select item 2555983	NM_016940.3(RWDD2B):c.923A>T (p.Asp308Val)	RWDD2B (D279V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310995	NM_016940.3(RWDD2B):c.917G>A (p.Cys306Tyr)	RWDD2B (C277Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471209	NM_016940.3(RWDD2B):c.902T>C (p.Leu301Ser)	RWDD2B (L301S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315829	NM_016940.3(RWDD2B):c.896A>T (p.Gln299Leu)	RWDD2B (Q270L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157259	NM_016940.3(RWDD2B):c.893A>G (p.Tyr298Cys)	RWDD2B (Y298C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157258	NM_016940.3(RWDD2B):c.773A>G (p.Asp258Gly)	RWDD2B (D229G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157257	NM_016940.3(RWDD2B):c.694C>G (p.Pro232Ala)	RWDD2B (P203A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556893	NM_016940.3(RWDD2B):c.641C>T (p.Ser214Phe)	RWDD2B (S185F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315827	NM_016940.3(RWDD2B):c.616A>G (p.Ile206Val)	RWDD2B (I177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353828	NM_016940.3(RWDD2B):c.593A>G (p.Tyr198Cys)	RWDD2B (Y169C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157256	NM_016940.3(RWDD2B):c.547G>A (p.Val183Ile)	RWDD2B (V183I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481812	NM_016940.3(RWDD2B):c.497T>G (p.Val166Gly)	RWDD2B (V137G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266786	NM_016940.3(RWDD2B):c.425A>G (p.Gln142Arg)	RWDD2B (Q113R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508738	NM_016940.3(RWDD2B):c.286G>A (p.Glu96Lys)	RWDD2B (E67K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157254	NM_016940.3(RWDD2B):c.232G>C (p.Gly78Arg)	RWDD2B (G78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315828	NM_016940.3(RWDD2B):c.202A>G (p.Lys68Glu)	RWDD2B (K68E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609613	NM_016940.3(RWDD2B):c.169A>G (p.Ile57Val)	RWDD2B (I57V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157253	NM_016940.3(RWDD2B):c.122C>T (p.Ala41Val)	RWDD2B (A12V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157260	NM_016940.3(RWDD2B):c.90G>T (p.Met30Ile)	RWDD2B (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157255	NM_016940.3(RWDD2B):c.32A>T (p.Asn11Ile)	LOC130066506, RWDD2B (N11I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241057	NM_016940.3(RWDD2B):c.17C>T (p.Ser6Phe)	LOC130066506, RWDD2B (S6F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2319693	NM_016940.3(RWDD2B):c.8T>C (p.Ile3Thr)	LOC130066506, RWDD2B (I3T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	N6AMT1, NCAM2 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 1809314	GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3	LTN1, USP16 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526712	GRCh37/hg19 21q21.3(chr21:30339313-30399972)	LTN1, RWDD2B +1 more	Copy number loss	not specified	GUncertain significance
Select item 1526711	GRCh37/hg19 21q21.3(chr21:30178276-30550204)	CCT8, LTN1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	KRTAP20-4, KRTAP21-1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816152	GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	ADAMTS1, ADAMTS5 +44 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 686180	GRCh37/hg19 21q21.3(chr21:29859153-30437842)x3	CCT8, LTN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443320	GRCh37/hg19 21q21.3(chr21:30120768-30533959)x1	CCT8, LTN1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
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 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic

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Items: 83