UBASH3A[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 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 2360047	NM_018961.4(UBASH3A):c.22C>A (p.Leu8Ile)	UBASH3A (L8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185494	NM_018961.4(UBASH3A):c.42C>A (p.Asn14Lys)	UBASH3A (N14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231940	NM_018961.4(UBASH3A):c.50A>G (p.Lys17Arg)	UBASH3A (K17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245051	NM_018961.4(UBASH3A):c.68C>T (p.Ser23Leu)	UBASH3A (S23L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185497	NM_018961.4(UBASH3A):c.70C>T (p.Leu24Phe)	UBASH3A (L24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405941	NM_018961.4(UBASH3A):c.101C>T (p.Pro34Leu)	UBASH3A (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269441	NM_018961.4(UBASH3A):c.146C>T (p.Thr49Met)	UBASH3A (T49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652706	NM_018961.4(UBASH3A):c.150G>A (p.Ala50=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3330547	NM_018961.4(UBASH3A):c.278G>A (p.Arg93Lys)	UBASH3A (R93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231939	NM_018961.4(UBASH3A):c.284G>T (p.Ser95Ile)	UBASH3A (S95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030883	NM_018961.4(UBASH3A):c.285C>T (p.Ser95=)	UBASH3A	Single nucleotide variant (synonymous variant)	UBASH3A-related disorder	GLikely benign
Select item 3330550	NM_018961.4(UBASH3A):c.314A>C (p.His105Pro)	UBASH3A (H105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218244	NM_018961.4(UBASH3A):c.363C>A (p.Asp121Glu)	UBASH3A (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545583	NM_018961.4(UBASH3A):c.427C>T (p.Pro143Ser)	UBASH3A (P143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730924	NM_018961.4(UBASH3A):c.432G>T (p.Thr144=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2591553	NM_018961.4(UBASH3A):c.481G>A (p.Val161Ile)	UBASH3A (V161I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185495	NM_018961.4(UBASH3A):c.508C>T (p.Arg170Trp)	UBASH3A (R170W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600284	NM_018961.4(UBASH3A):c.521T>C (p.Met174Thr)	UBASH3A (M174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258337	NM_018961.4(UBASH3A):c.529G>A (p.Ala177Thr)	UBASH3A (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185496	NM_018961.4(UBASH3A):c.562G>A (p.Val188Ile)	UBASH3A (V188I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330542	NM_018961.4(UBASH3A):c.643G>A (p.Val215Met)	UBASH3A (V215M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2288138	NM_018961.4(UBASH3A):c.649C>T (p.His217Tyr)	UBASH3A (H217Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301395	NM_018961.4(UBASH3A):c.761G>A (p.Arg254Lys)	UBASH3A (R216K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185498	NM_018961.4(UBASH3A):c.790T>C (p.Trp264Arg)	UBASH3A (W226R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330545	NM_018961.4(UBASH3A):c.796G>A (p.Ala266Thr)	UBASH3A (A228T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185499	NM_018961.4(UBASH3A):c.815A>C (p.Asp272Ala)	UBASH3A (D234A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604599	NM_018961.4(UBASH3A):c.874G>A (p.Val292Met)	UBASH3A (V254M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402845	NM_018961.4(UBASH3A):c.879T>G (p.Asp293Glu)	UBASH3A (D255E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723471	NM_018961.4(UBASH3A):c.909C>T (p.Ile303=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769477	NM_018961.4(UBASH3A):c.912T>C (p.Phe304=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3330539	NM_018961.4(UBASH3A):c.934G>A (p.Glu312Lys)	UBASH3A (E274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259274	NM_018961.4(UBASH3A):c.952G>A (p.Val318Met)	UBASH3A (V280M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262231	NM_018961.4(UBASH3A):c.1076T>C (p.Leu359Pro)	UBASH3A (L359P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185485	NM_018961.4(UBASH3A):c.1117G>A (p.Gly373Arg)	UBASH3A (G373R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729705	NM_018961.4(UBASH3A):c.1176C>T (p.Thr392=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391455	NM_018961.4(UBASH3A):c.1234G>A (p.Gly412Arg)	UBASH3A (G374R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493117	NM_018961.4(UBASH3A):c.1316G>A (p.Arg439Lys)	UBASH3A (R439K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364040	NM_018961.4(UBASH3A):c.1318C>T (p.Arg440Trp)	UBASH3A (R440W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185486	NM_018961.4(UBASH3A):c.1369G>A (p.Gly457Ser)	UBASH3A (G419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562833	NM_018961.4(UBASH3A):c.1387A>T (p.Ile463Phe)	UBASH3A (I463F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1232058	NM_018961.4(UBASH3A):c.1393+3A>C	UBASH3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2542981	NM_018961.4(UBASH3A):c.1453C>T (p.Arg485Cys)	UBASH3A (R447C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455756	NM_018961.4(UBASH3A):c.1501A>G (p.Lys501Glu)	UBASH3A (K501E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330548	NM_018961.4(UBASH3A):c.1565C>T (p.Thr522Ile)	UBASH3A (T522I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185488	NM_018961.4(UBASH3A):c.1574C>T (p.Thr525Ile)	UBASH3A (T487I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349896	NM_018961.4(UBASH3A):c.1615A>G (p.Ile539Val)	UBASH3A (I501V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304511	NM_018961.4(UBASH3A):c.1615A>C (p.Ile539Leu)	UBASH3A (I539L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285487	NM_018961.4(UBASH3A):c.1637C>T (p.Ala546Val)	UBASH3A (A508V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466536	NM_018961.4(UBASH3A):c.1646T>G (p.Leu549Arg)	UBASH3A (L511R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477360	NM_018961.4(UBASH3A):c.1689C>A (p.Asp563Glu)	UBASH3A (D525E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330549	NM_018961.4(UBASH3A):c.1691G>A (p.Arg564Lys)	UBASH3A (R526K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330543	NM_018961.4(UBASH3A):c.1730C>T (p.Pro577Leu)	UBASH3A (P539L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523337	NM_018961.4(UBASH3A):c.1741G>A (p.Gly581Ser)	UBASH3A (G543S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350881	NM_018961.4(UBASH3A):c.1787C>A (p.Thr596Lys)	UBASH3A (T558K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330540	NM_018961.4(UBASH3A):c.1790G>A (p.Arg597Gln)	UBASH3A (R597Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330546	NM_018961.4(UBASH3A):c.1801G>A (p.Gly601Arg)	UBASH3A (G601R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781595	NM_018961.4(UBASH3A):c.1803G>A (p.Gly601=)	UBASH3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3330551	NM_018961.4(UBASH3A):c.1808C>A (p.Pro603Gln)	UBASH3A (P603Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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