URB1[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 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 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59011	GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1	HUNK, LINC00159 +27 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 2293471	NM_178817.3(MRAP):c.207delG	MRAP, URB1	Deletion (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 339680	NM_001379228.1(MRAP):c.219G>A (p.Lys73=)	URB1, MRAP	Single nucleotide variant (synonymous variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339681	NM_001379228.1(MRAP):c.234C>G (p.Cys78Trp)	MRAP, URB1 (C78W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 3355871	NM_001379228.1(MRAP):c.242G>T (p.Ser81Ile)	MRAP, URB1 (S22I +1 more)	Single nucleotide variant (missense variant +2 more)	MRAP-related disorder	GUncertain significance
Select item 3203840	NM_001379228.1(MRAP):c.255C>A (p.Asn85Lys)	MRAP, URB1 (N85K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 898129	NM_001379228.1(MRAP):c.271C>A (p.Gln91Lys)	MRAP, URB1 (Q32K +1 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 2652592	NM_001379228.1(MRAP):c.285G>A (p.Pro95=)	MRAP, URB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2300204	NM_001379228.1(MRAP):c.322G>A (p.Ala108Thr)	MRAP, URB1 (A49T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2652593	NM_001379228.1(MRAP):c.324G>A (p.Ala108=)	MRAP, URB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3203845	NM_001379228.1(MRAP):c.327C>A (p.Ser109Arg)	MRAP, URB1 (S109R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2253492	NM_001379228.1(MRAP):c.353G>A (p.Gly118Asp)	MRAP, URB1 (G118D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2652594	NM_001379228.1(MRAP):c.365C>T (p.Pro122Leu)	MRAP, URB1 (P122L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3203848	NM_001379228.1(MRAP):c.375G>C (p.Gln125His)	MRAP, URB1 (Q125H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 339682	NM_001379228.1(MRAP):c.389C>T (p.Thr130Ile)	MRAP, URB1 (T130I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 339683	NM_001379228.1(MRAP):c.390C>G (p.Thr130=)	MRAP, URB1	Single nucleotide variant (synonymous variant +2 more)	Glucocorticoid deficiency 2	GBenign
Select item 2361249	NM_001379228.1(MRAP):c.400G>A (p.Gly134Arg)	MRAP, URB1 (G75R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2268291	NM_001379228.1(MRAP):c.435A>C (p.Glu145Asp)	MRAP, URB1 (E145D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 339684	NM_001379228.1(MRAP):c.446A>G (p.Asn149Ser)	MRAP, URB1 (N149S +1 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2	GLikely benign
Select item 898130	NM_001379228.1(MRAP):c.451G>A (p.Gly151Ser)	MRAP, URB1 (G92S +1 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339685	NM_001379228.1(MRAP):c.486C>G (p.Pro162=)	MRAP, URB1	Single nucleotide variant (synonymous variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339686	NM_001379228.1(MRAP):c.508T>A (p.Leu170Met)	MRAP, URB1 (L170M +1 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 899239	NM_001379228.1(MRAP):c.*14T>A	MRAP, URB1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 339687	NM_001379228.1(MRAP):c.*108A>G	MRAP, URB1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid deficiency 2 +1 more	GBenign
Select item 899240	NM_001379228.1(MRAP):c.*181G>A	MRAP, URB1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 899241	NM_001379228.1(MRAP):c.*197T>C	MRAP, URB1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid deficiency 2	GUncertain significance
Select item 3355327	NM_206898.2(MRAP):c.235del (p.Ser79fs)	MRAP, URB1 (S79fs)	Deletion (frameshift variant +1 more)	MRAP-related disorder	GUncertain significance
Select item 3331182	NM_014825.3(URB1):c.6793G>A (p.Ala2265Thr)	URB1 (A2265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186935	NM_014825.3(URB1):c.6748C>T (p.Pro2250Ser)	URB1 (P2250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186934	NM_014825.3(URB1):c.6715G>A (p.Val2239Ile)	URB1 (V2239I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345290	NM_014825.3(URB1):c.6714C>G (p.His2238Gln)	URB1 (H2238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186933	NM_014825.3(URB1):c.6701C>T (p.Thr2234Ile)	URB1 (T2234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395933	NM_014825.3(URB1):c.6652G>A (p.Val2218Met)	URB1 (V2218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538131	NM_014825.3(URB1):c.6605C>T (p.Ser2202Phe)	URB1 (S2202F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302667	NM_014825.3(URB1):c.6557G>A (p.Arg2186Gln)	URB1 (R2186Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331205	NM_014825.3(URB1):c.6530T>C (p.Met2177Thr)	URB1 (M2177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186932	NM_014825.3(URB1):c.6463C>T (p.Arg2155Trp)	URB1 (R2155W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542916	NM_014825.3(URB1):c.6458A>G (p.Tyr2153Cys)	URB1 (Y2153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520572	NM_014825.3(URB1):c.6433G>A (p.Val2145Met)	URB1 (V2145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331197	NM_014825.3(URB1):c.6425A>G (p.Asp2142Gly)	URB1 (D2142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331191	NM_014825.3(URB1):c.6353C>A (p.Ala2118Asp)	URB1 (A2118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331194	NM_014825.3(URB1):c.6342C>A (p.Ser2114Arg)	URB1 (S2114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475884	NM_014825.3(URB1):c.6325G>T (p.Ala2109Ser)	URB1 (A2109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331183	NM_014825.3(URB1):c.6266C>T (p.Ala2089Val)	URB1 (A2089V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350414	NM_014825.3(URB1):c.6262G>A (p.Asp2088Asn)	URB1 (D2088N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652595	NM_014825.3(URB1):c.6255C>T (p.Pro2085=)	URB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490108	NM_014825.3(URB1):c.6241G>T (p.Asp2081Tyr)	URB1 (D2081Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186931	NM_014825.3(URB1):c.6223C>A (p.Pro2075Thr)	URB1 (P2075T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770005	NM_014825.3(URB1):c.6212C>G (p.Pro2071Arg)	URB1 (P2071R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2317419	NM_014825.3(URB1):c.6211C>T (p.Pro2071Ser)	URB1 (P2071S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368201	NM_014825.3(URB1):c.6110G>A (p.Gly2037Glu)	URB1 (G2037E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186930	NM_014825.3(URB1):c.6074G>A (p.Arg2025Gln)	URB1 (R2025Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597033	NM_014825.3(URB1):c.6067C>G (p.Pro2023Ala)	URB1 (P2023A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331204	NM_014825.3(URB1):c.6045G>T (p.Lys2015Asn)	URB1 (K2015N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186929	NM_014825.3(URB1):c.6022C>T (p.Arg2008Trp)	URB1 (R2008W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186928	NM_014825.3(URB1):c.6005T>C (p.Ile2002Thr)	URB1 (I2002T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215024	NM_014825.3(URB1):c.6004A>G (p.Ile2002Val)	URB1 (I2002V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456277	NM_014825.3(URB1):c.5999C>T (p.Ala2000Val)	URB1 (A2000V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483974	NM_014825.3(URB1):c.5993T>C (p.Leu1998Pro)	URB1 (L1998P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331193	NM_014825.3(URB1):c.5939T>A (p.Val1980Asp)	URB1 (V1980D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742554	NM_014825.3(URB1):c.5892C>T (p.Asn1964=)	URB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2386571	NM_014825.3(URB1):c.5845G>A (p.Val1949Met)	URB1 (V1949M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186927	NM_014825.3(URB1):c.5830G>A (p.Gly1944Arg)	URB1 (G1944R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769475	NM_014825.3(URB1):c.5792G>A (p.Arg1931Lys)	URB1 (R1931K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2321027	NM_014825.3(URB1):c.5750A>G (p.Asn1917Ser)	URB1 (N1917S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294919	NM_014825.3(URB1):c.5742C>G (p.His1914Gln)	URB1 (H1914Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186926	NM_014825.3(URB1):c.5728C>T (p.Arg1910Trp)	URB1 (R1910W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186925	NM_014825.3(URB1):c.5693G>A (p.Arg1898His)	URB1 (R1898H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331187	NM_014825.3(URB1):c.5692C>T (p.Arg1898Cys)	URB1 (R1898C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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