BZW1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 2604995	NM_001207067.2(BZW1):c.-11+427G>T	BZW1 (A4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215119	NM_001207067.2(BZW1):c.-11+430C>G	BZW1 (P5A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2392933	NM_001207067.2(BZW1):c.-11+431C>T	BZW1 (P5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493251	NM_001207067.2(BZW1):c.-11+452C>T	BZW1 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409236	NM_001207067.2(BZW1):c.-11+457G>T	BZW1 (V14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494373	NM_001207067.2(BZW1):c.-11+463G>C	BZW1 (V16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135645	NM_001207067.2(BZW1):c.-11+481C>T	BZW1 (R22W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216161	NM_001207067.2(BZW1):c.139T>A (p.Leu47Met)	BZW1 (L47M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307802	NM_001207067.2(BZW1):c.302A>G (p.Gln101Arg)	BZW1 (Q105R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135644	NM_001207067.2(BZW1):c.436G>A (p.Glu146Lys)	BZW1 (E178K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262357	NM_001207067.2(BZW1):c.461C>T (p.Thr154Ile)	BZW1 (T158I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493126	NM_001207067.2(BZW1):c.646A>G (p.Met216Val)	BZW1 (M132V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135646	NM_001207067.2(BZW1):c.688A>G (p.Thr230Ala)	BZW1 (T171A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529994	NM_001207067.2(BZW1):c.737G>A (p.Arg246Gln)	BZW1 (R162Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135647	NM_001207067.2(BZW1):c.844A>G (p.Met282Val)	BZW1 (M223V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309068	NM_001207067.2(BZW1):c.885A>G (p.Ile295Met)	BZW1 (I327M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135643	NM_001207067.2(BZW1):c.998C>G (p.Thr333Ser)	BZW1 (T333S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271883	NM_001207067.2(BZW1):c.1060C>G (p.His354Asp)	BZW1 (H295D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275821	NM_001207067.2(BZW1):c.1135A>C (p.Lys379Gln)	BZW1 (K313Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 52