FAM50B[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	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 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 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 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
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 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 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 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	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 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
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 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 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 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 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
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 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 59497	GRCh38/hg38 6p25.2(chr6:3417286-4140023)x3	LOC643327, PRPF4B +31 more	Copy number gain	See cases	GUncertain significance
Select item 2290629	NM_012135.3(FAM50B):c.34G>A (p.Gly12Ser)	FAM50B (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255073	NM_012135.3(FAM50B):c.50T>A (p.Leu17His)	FAM50B (L17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681271	NM_012135.3(FAM50B):c.73C>T (p.Arg25Trp)	FAM50B (R25W)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3092479	NM_012135.3(FAM50B):c.80A>T (p.Gln27Leu)	FAM50B (Q27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092475	NM_012135.3(FAM50B):c.109G>A (p.Glu37Lys)	FAM50B (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277458	NM_012135.3(FAM50B):c.253G>A (p.Glu85Lys)	FAM50B (E85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337872	NM_012135.3(FAM50B):c.283G>A (p.Glu95Lys)	FAM50B (E95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305387	NM_012135.3(FAM50B):c.313C>T (p.Arg105Trp)	FAM50B (R105W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401347	NM_012135.3(FAM50B):c.314G>A (p.Arg105Gln)	FAM50B (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277459	NM_012135.3(FAM50B):c.332G>A (p.Arg111His)	FAM50B (R111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484893	NM_012135.3(FAM50B):c.469G>A (p.Asp157Asn)	FAM50B (D157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339883	NM_012135.3(FAM50B):c.493C>T (p.Leu165Phe)	FAM50B (L165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092476	NM_012135.3(FAM50B):c.508C>T (p.Arg170Cys)	FAM50B (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322157	NM_012135.3(FAM50B):c.515A>G (p.Glu172Gly)	FAM50B (E172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275167	NM_012135.3(FAM50B):c.571T>C (p.Tyr191His)	FAM50B (Y191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342421	NM_012135.3(FAM50B):c.599C>T (p.Thr200Met)	FAM50B (T200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092478	NM_012135.3(FAM50B):c.602T>G (p.Val201Gly)	FAM50B (V201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393680	NM_012135.3(FAM50B):c.605G>A (p.Arg202Gln)	FAM50B (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517799	NM_012135.3(FAM50B):c.946G>A (p.Glu316Lys)	FAM50B (E316K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620920	NM_012135.3(FAM50B):c.953A>C (p.Lys318Thr)	FAM50B (K318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411558	NM_012135.3(FAM50B):c.961A>G (p.Lys321Glu)	FAM50B (K321E)	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 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
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 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 816611	GRCh37/hg19 6p25.2(chr6:3770033-3987451)x3	FAM50B	Copy number gain	not provided	GUncertain significance
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 624523	GRCh37/hg19 6p25.2(chr6:3768839-3972010)x3	FAM50B	Copy number gain	not provided	GLikely benign
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 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 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

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Items: 69