ClinVar for Gene (Select 670) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134799	NM_004332.4(BPHL):c.75C>A (p.His25Gln)	BPHL, LOC129995633 (H25Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134798	NM_004332.4(BPHL):c.745C>T (p.Arg249Trp)	BPHL (R232W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134797	NM_004332.4(BPHL):c.706G>T (p.Ala236Ser)	BPHL (A219S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134795	NM_004332.4(BPHL):c.506C>G (p.Thr169Ser)	BPHL (T152S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134794	NM_004332.4(BPHL):c.436C>T (p.Leu146Phe)	BPHL (L146F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134793	NM_004332.4(BPHL):c.35G>T (p.Arg12Leu)	BPHL, LOC129995633 (R12L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134792	NM_004332.4(BPHL):c.254A>G (p.Asn85Ser)	BPHL (N85S +1 more)	Single nucleotide variant (missense variant +1 more)	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 2656183	NM_004332.4(BPHL):c.387G>A (p.Lys129=)	BPHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2583165	Single allele	LOC129995619, LOC129995620 +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 2515135	NM_004332.4(BPHL):c.692G>A (p.Arg231Gln)	BPHL (R214Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509155	NM_004332.4(BPHL):c.829C>T (p.Arg277Cys)	BPHL (R260C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486154	NM_004332.4(BPHL):c.401C>G (p.Ser134Cys)	BPHL (S117C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425169	NC_000006.11:g.(?_2833842)_(3227777_?)del	BPHL, NQO2 +6 more	Deletion	not provided	GUncertain significance
Select item 2424766	NC_000006.11:g.(?_3104439)_(3157697_?)dup	BPHL, RIPK1 +1 more	Duplication	not provided	GUncertain significance
Select item 2398385	NM_004332.4(BPHL):c.530A>G (p.Glu177Gly)	BPHL (E177G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392837	NM_004332.4(BPHL):c.490G>A (p.Ala164Thr)	BPHL (A164T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305745	NM_004332.4(BPHL):c.860A>T (p.Glu287Val)	BPHL (E287V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282404	NM_004332.4(BPHL):c.659C>G (p.Pro220Arg)	BPHL (P220R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281093	NM_004332.4(BPHL):c.341T>C (p.Phe114Ser)	BPHL (F114S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252779	NM_004332.4(BPHL):c.713T>C (p.Ile238Thr)	BPHL (I221T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227675	NM_004332.4(BPHL):c.511G>A (p.Glu171Lys)	BPHL (E154K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212838	NM_004332.4(BPHL):c.517A>G (p.Ser173Gly)	BPHL (S156G +1 more)	Single nucleotide variant (missense variant +1 more)	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 1265040	NM_004332.4(BPHL):c.*965A>C	BPHL, TUBB2A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 709823	NM_004332.4(BPHL):c.380C>T (p.Ala127Val)	BPHL (A110V +1 more)	Single nucleotide variant (missense variant +1 more)	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 686893	GRCh37/hg19 6p25.2(chr6:3151303-3220269)x1	BPHL, TUBB2A	Copy number loss	not provided	GUncertain significance
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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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 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 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	BPHL, C6orf201 +255 more	Copy number gain	See cases	GUncertain significance
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +312 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	BPHL, C6orf201 +255 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +345 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	BPHL, C6orf201 +307 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +307 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +211 more	Copy number loss	See cases	GPathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +287 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 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	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 more	Copy number loss	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +300 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +310 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	BPHL, C6orf201 +301 more	Copy number loss	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +258 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	BPHL, C6orf201 +279 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC126859561, LOC126859562 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78