ClinVar for Gene (Select 4835) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300911	NM_000904.6(NQO2):c.646T>G (p.Trp216Gly)	NQO2 (W216G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300910	NM_000904.6(NQO2):c.230A>T (p.Lys77Met)	NQO2 (K77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300909	NM_000904.6(NQO2):c.250G>T (p.Asp84Tyr)	NQO2 (D84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300908	NM_000904.6(NQO2):c.58G>A (p.Gly20Arg)	NQO2 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246173	NC_000006.11:g.(?_2833842)_(3089911_?)dup	NQO2, RIPK1 +3 more	Duplication	not provided	GUncertain significance
Select item 3201853	NM_000904.6(NQO2):c.688G>A (p.Gly230Arg)	NQO2 (G230R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201852	NM_000904.6(NQO2):c.683A>G (p.His228Arg)	NQO2 (H190R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201851	NM_000904.6(NQO2):c.678C>A (p.His226Gln)	NQO2 (H226Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201849	NM_000904.6(NQO2):c.406G>A (p.Gly136Ser)	NQO2 (G136S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201848	NM_000904.6(NQO2):c.29A>G (p.Tyr10Cys)	NQO2 (Y10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2592044	NM_000904.6(NQO2):c.400G>A (p.Asp134Asn)	NQO2 (D134N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2540866	NM_000904.6(NQO2):c.184A>G (p.Asn62Asp)	NQO2 (N62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525353	NM_000904.6(NQO2):c.20T>C (p.Leu7Pro)	NQO2 (L7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520200	NM_000904.6(NQO2):c.484A>G (p.Asn162Asp)	NQO2 (N124D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454906	NM_000904.6(NQO2):c.503T>G (p.Phe168Cys)	NQO2 (F130C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445265	NM_000904.6(NQO2):c.47A>G (p.Lys16Arg)	NQO2 (K16R)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2425169	NC_000006.11:g.(?_2833842)_(3227777_?)del	BPHL, NQO2 +6 more	Deletion	not provided	GUncertain significance
Select item 2396011	NM_000904.6(NQO2):c.439G>A (p.Val147Ile)	NQO2 (V109I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349800	NM_000904.6(NQO2):c.220G>A (p.Glu74Lys)	NQO2 (E74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346198	NM_000904.6(NQO2):c.56A>T (p.Asn19Ile)	NQO2 (N19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340737	NM_000904.6(NQO2):c.569G>A (p.Ser190Asn)	NQO2 (S152N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2231231	NM_000904.6(NQO2):c.277C>T (p.Arg93Trp)	NQO2 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227461	NM_000904.6(NQO2):c.419G>A (p.Gly140Asp)	NQO2 (G102D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	BPHL, EXOC2 +18 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
Select item 1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	BPHL, DUSP22 +21 more	Copy number gain	not provided	GPathogenic
Select item 1023045	NC_000006.11:g.(?_2833842)_(3227777_?)dup	BPHL, NQO2 +6 more	Duplication	not provided	GUncertain significance
Select item 980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	TUBB2A, DUSP22 +19 more	Copy number gain	not provided	GPathogenic
Select item 778884	NM_000904.6(NQO2):c.173-5G>A	NQO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	HUS1B, SERPINB6 +19 more	Copy number loss	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443199	GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1	BPHL, C6orf201 +24 more	Copy number loss	See cases	GPathogenic
Select item 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 442040	GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1	PXDC1, RIPK1 +24 more	Copy number loss	See cases	GPathogenic
Select item 441731	GRCh37/hg19 6p25.3-25.2(chr6:2209050-3009366)x3	GMDS, LINC01600 +6 more	Copy number gain	See cases	GLikely benign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic
Select item 242978	GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3	GMDS, DUSP22 +16 more	Copy number gain	Brachydactyly type E1	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 79