17346[HGNC] - ClinVar

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Items: 83

	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 145823	GRCh38/hg38 6p25.2(chr6:3876004-4099191)x3	C6orf201, FAM217A +7 more	Copy number gain	See cases	GLikely benign
Select item 2618997	NM_003913.5(PRP4K):c.8C>T (p.Ala3Val)	LOC129995654, PRP4K (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219201	NM_003913.5(PRP4K):c.11C>T (p.Ala4Val)	LOC129995654, PRP4K (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219206	NM_003913.5(PRP4K):c.28C>T (p.Arg10Trp)	PRP4K (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219204	NM_003913.5(PRP4K):c.173A>G (p.Lys58Arg)	PRP4K (K58R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783453	NM_003913.5(PRP4K):c.204A>G (p.Lys68=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2411387	NM_003913.5(PRP4K):c.233A>G (p.His78Arg)	PRP4K (H78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299340	NM_003913.5(PRP4K):c.375G>A (p.Met125Ile)	PRP4K (M125I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355686	NM_003913.5(PRP4K):c.496A>G (p.Ser166Gly)	PRP4K (S166G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518236	NM_003913.5(PRP4K):c.518T>C (p.Leu173Pro)	PRP4K (L173P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310386	NM_003913.5(PRP4K):c.532A>G (p.Ile178Val)	PRP4K (I178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518147	NM_003913.5(PRP4K):c.548G>A (p.Arg183Gln)	PRP4K (R183Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294866	NM_003913.5(PRP4K):c.571C>T (p.Arg191Trp)	PRP4K (R191W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455100	NM_003913.5(PRP4K):c.794T>C (p.Ile265Thr)	PRP4K (I265T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285664	NM_003913.5(PRP4K):c.818A>G (p.Asp273Gly)	PRP4K (D273G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219207	NM_003913.5(PRP4K):c.913A>G (p.Arg305Gly)	PRP4K (R305G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2276697	NM_003913.5(PRP4K):c.923G>A (p.Arg308Gln)	PRP4K (R308Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219200	NM_003913.5(PRP4K):c.1030A>G (p.Arg344Gly)	PRP4K (R344G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310384	NM_003913.5(PRP4K):c.1040G>C (p.Gly347Ala)	PRP4K (G347A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374810	NM_003913.5(PRP4K):c.1043G>A (p.Arg348His)	PRP4K (R348H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468610	NM_003913.5(PRP4K):c.1120A>G (p.Arg374Gly)	PRP4K (R374G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607648	NM_003913.5(PRP4K):c.1150C>T (p.Arg384Trp)	PRP4K (R384W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261908	NM_003913.5(PRP4K):c.1196G>C (p.Arg399Thr)	PRP4K (R399T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219202	NM_003913.5(PRP4K):c.1223G>A (p.Arg408Gln)	PRP4K (R408Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263285	NM_003913.5(PRP4K):c.1250G>A (p.Arg417Gln)	PRP4K (R417Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377846	NM_003913.5(PRP4K):c.1271G>A (p.Arg424His)	PRP4K (R424H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656187	NM_003913.5(PRP4K):c.1318C>A (p.Arg440=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2397442	NM_003913.5(PRP4K):c.1319G>A (p.Arg440Gln)	PRP4K (R440Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656188	NM_003913.5(PRP4K):c.1392A>G (p.Arg464=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2377184	NM_003913.5(PRP4K):c.1392A>C (p.Arg464Ser)	PRP4K (R464S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365117	NM_003913.5(PRP4K):c.1406G>A (p.Arg469Gln)	PRP4K (R469Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219203	NM_003913.5(PRP4K):c.1438C>T (p.Arg480Cys)	PRP4K (R480C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314422	NM_003913.5(PRP4K):c.1445G>C (p.Arg482Pro)	PRP4K (R482P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656189	NM_003913.5(PRP4K):c.1464C>T (p.Arg488=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656190	NM_003913.5(PRP4K):c.2175-4T>G	PRP4K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2317749	NM_003913.5(PRP4K):c.2287C>T (p.Leu763Phe)	PRP4K (L763F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727281	NM_003913.5(PRP4K):c.2406A>G (p.Ala802=)	PRP4K	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1678343	NM_003913.5(PRP4K):c.2474A>T (p.Glu825Val)	PRP4K (E825V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3219205	NM_003913.5(PRP4K):c.2747G>T (p.Gly916Val)	PRP4K (G916V)	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 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 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 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: 83