14601[HGNC] - ClinVar

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Items: 77

	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 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 2354807	NM_206836.3(ECI2):c.1150G>A (p.Val384Met)	C6orf201, ECI2 (V384M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086961	NM_206836.3(ECI2):c.1025C>A (p.Pro342Gln)	C6orf201, ECI2 (P342Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086970	NM_206836.3(ECI2):c.977T>C (p.Phe326Ser)	C6orf201, ECI2 (F326S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782467	NM_206836.3(ECI2):c.964C>T (p.Pro322Ser)	C6orf201, ECI2 (P322S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3274418	NM_206836.3(ECI2):c.923C>A (p.Ala308Glu)	C6orf201, ECI2 (A278E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274415	NM_206836.3(ECI2):c.895A>G (p.Met299Val)	C6orf201, ECI2 (M299V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529552	NM_206836.3(ECI2):c.884A>C (p.Lys295Thr)	C6orf201, ECI2 (K295T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274416	NM_206836.3(ECI2):c.866A>G (p.Lys289Arg)	C6orf201, ECI2 (K289R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616993	NM_206836.3(ECI2):c.785C>T (p.Ala262Val)	C6orf201, ECI2 (A232V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459814	NM_206836.3(ECI2):c.778G>A (p.Val260Met)	C6orf201, ECI2 (V260M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273806	NM_206836.3(ECI2):c.746T>C (p.Ile249Thr)	C6orf201, ECI2 (I219T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086967	NM_206836.3(ECI2):c.692T>C (p.Phe231Ser)	C6orf201, ECI2 (F201S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782468	NM_206836.3(ECI2):c.663C>T (p.Ala221=)	C6orf201, ECI2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2287231	NM_206836.3(ECI2):c.661G>A (p.Ala221Thr)	C6orf201, ECI2 +1 more (A191T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086966	NM_206836.3(ECI2):c.625C>A (p.Pro209Thr)	C6orf201, ECI2 +1 more (P209T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260606	NM_206836.3(ECI2):c.617C>T (p.Thr206Ile)	C6orf201, ECI2 +1 more (T206I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390301	NM_206836.3(ECI2):c.580G>A (p.Asp194Asn)	C6orf201, ECI2 +1 more (D194N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228293	NM_206836.3(ECI2):c.490A>G (p.Ile164Val)	C6orf201, ECI2 (I134V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254148	NM_206836.3(ECI2):c.448A>G (p.Ile150Val)	C6orf201, ECI2 (I150V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086964	NM_206836.3(ECI2):c.409A>G (p.Thr137Ala)	C6orf201, ECI2 (T107A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527137	NM_206836.3(ECI2):c.332A>G (p.Tyr111Cys)	C6orf201, ECI2 (Y81C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376931	NM_206836.3(ECI2):c.331T>C (p.Tyr111His)	C6orf201, ECI2 (Y81H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615301	NM_206836.3(ECI2):c.283G>A (p.Ala95Thr)	ECI2 (A95T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214084	NM_206836.3(ECI2):c.203T>C (p.Leu68Pro)	ECI2 (L68P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537087	NM_206836.3(ECI2):c.199G>A (p.Ala67Thr)	ECI2 (A37T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086963	NM_206836.3(ECI2):c.139A>G (p.Met47Val)	ECI2 (M17V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3086969	NM_206836.3(ECI2):c.91A>G (p.Met31Val)	ECI2 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 789586	NM_206836.3(ECI2):c.51-8A>G	ECI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2465762	NM_206836.3(ECI2):c.47C>G (p.Pro16Arg)	ECI2 (P16R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2275632	NM_206836.3(ECI2):c.46C>A (p.Pro16Thr)	ECI2 (P16T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2509001	NM_206836.3(ECI2):c.35G>A (p.Arg12Gln)	ECI2 (R12Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2220775	NM_206836.3(ECI2):c.14A>G (p.Tyr5Cys)	ECI2 (Y5C)	Single nucleotide variant (5 prime UTR variant +2 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: 77