CDYL[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	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 +823 more	Copy number gain	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 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	BPHL, C6orf201 +279 more	Copy number gain	See cases	GPathogenic
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 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 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +287 more	Copy number loss	See cases	GPathogenic
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 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 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 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 more	Copy number gain	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 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC126859561, LOC126859562 +305 more	Copy number loss	See cases	GPathogenic
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 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 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 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 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 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 3141775	NM_004824.4(CDYL):c.172C>T (p.Arg58Cys)	CDYL (R112C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141776	NM_004824.4(CDYL):c.188A>C (p.Gln63Pro)	CDYL (Q63P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2324249	NM_004824.4(CDYL):c.260C>T (p.Thr87Ile)	CDYL (T141I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141777	NM_004824.4(CDYL):c.358A>G (p.Arg120Gly)	CDYL (R120G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2518621	NM_004824.4(CDYL):c.388C>T (p.Arg130Trp)	CDYL (R130W +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2354930	NM_004824.4(CDYL):c.389G>A (p.Arg130Gln)	CDYL (R184Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2259852	NM_004824.4(CDYL):c.412T>A (p.Ser138Thr)	CDYL (S138T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320464	NM_004824.4(CDYL):c.445G>T (p.Val149Phe)	CDYL (V203F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388138	NM_004824.4(CDYL):c.469G>A (p.Gly157Ser)	CDYL (G25S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141778	NM_004824.4(CDYL):c.508G>A (p.Glu170Lys)	CDYL (E170K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235575	NM_004824.4(CDYL):c.562G>A (p.Gly188Arg)	CDYL (G242R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454526	NM_004824.4(CDYL):c.631C>T (p.Pro211Ser)	CDYL (P79S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257811	NM_004824.4(CDYL):c.652A>G (p.Thr218Ala)	CDYL (T86A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463049	NM_004824.4(CDYL):c.661A>G (p.Met221Val)	CDYL (M221V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141779	NM_004824.4(CDYL):c.724A>G (p.Asn242Asp)	CDYL (N242D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220166	NM_004824.4(CDYL):c.725A>G (p.Asn242Ser)	CDYL (N110S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141780	NM_004824.4(CDYL):c.985G>A (p.Ala329Thr)	CDYL (A197T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599078	NM_004824.4(CDYL):c.991G>A (p.Asp331Asn)	CDYL (D309N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348889	NM_004824.4(CDYL):c.1021G>A (p.Val341Ile)	CDYL (V209I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211794	NM_004824.4(CDYL):c.1075A>G (p.Thr359Ala)	CDYL (T337A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402525	NM_004824.4(CDYL):c.1332+31dup	CDYL	Duplication (intron variant)	not specified	GBenign
Select item 2492737	NM_004824.4(CDYL):c.1351A>G (p.Ser451Gly)	CDYL (S216G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494428	NM_004824.4(CDYL):c.1441G>A (p.Val481Ile)	CDYL (V459I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460785	NM_004824.4(CDYL):c.1474G>C (p.Val492Leu)	CDYL (V360L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141773	NM_004824.4(CDYL):c.1577C>T (p.Ser526Leu)	CDYL (S394L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290976	NM_004824.4(CDYL):c.1584G>C (p.Gln528His)	CDYL (Q528H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141774	NM_004824.4(CDYL):c.1595C>T (p.Ser532Phe)	CDYL (S400F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345870	NM_004824.4(CDYL):c.1624G>A (p.Asp542Asn)	CDYL (D410N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 979724	GRCh37/hg19 6p25.1(chr6:4815620-5304909)x3	LYRM4, RPP40 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816612	GRCh37/hg19 6p25.1(chr6:4701116-4754742)x1	CDYL	Copy number loss	not provided	GUncertain significance
Select item 687753	GRCh37/hg19 6p25.1(chr6:4812509-5158081)x4	PPP1R3G, CDYL +2 more	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 563148	GRCh37/hg19 6p25.1(chr6:4920229-5624099)x3	PPP1R3G, CDYL +3 more	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)	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 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 442239	GRCh37/hg19 6p25.1(chr6:4338840-5164497)x3	CDYL, KU-MEL-3 +3 more	Copy number gain	See cases	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76