ClinVar for Gene (Select 9425) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
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 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 402525	NM_004824.4(CDYL):c.1332+31dup	CDYL	Duplication (intron variant)	not specified	GBenign
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 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +611 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LINC01622, LINC02521 +558 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	BPHL, C6orf201 +256 more	Copy number gain	See cases	GUncertain significance
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995709, LOC129995710 +642 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +313 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 +256 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +346 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC129995671, LOC129995672 +509 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +778 more	Copy number gain	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 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	BPHL, C6orf201 +308 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	LINC01600, LINC01622 +308 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +288 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC129995581, LOC129995582 +436 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 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	ADTRP, BLOC1S5 +572 more	Copy number gain	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 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +432 more	Copy number loss	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +301 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	LOC129389424, LOC129389425 +311 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	KU-MEL-3, LINC01011 +302 more	Copy number loss	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +259 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 +280 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +824 more	Copy number gain	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995556, LOC129995570 +306 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 76