LOC126859547[gene] - ClinVar

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Items: 48

	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 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
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 146366	GRCh38/hg38 6p25.3(chr6:163083-1365190)x1	DUSP22, EXOC2 +97 more	Copy number loss	See cases	GUncertain significance
Select item 146312	GRCh38/hg38 6p25.3(chr6:163083-2029531)x3	DUSP22, EXOC2 +120 more	Copy number gain	See cases	GPathogenic
Select item 58408	GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	DUSP22, EXOC2 +129 more	Copy number loss	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 57019	GRCh38/hg38 6p25.3(chr6:163083-1951351)x3	DUSP22, EXOC2 +118 more	Copy number gain	See cases	GPathogenic
Select item 32601	GRCh38/hg38 6p25.3(chr6:163083-918985)x1	DUSP22, EXOC2 +87 more	Copy number loss	See cases	GUncertain significance
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 151605	GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	LOC129995588, LOC129995589 +110 more	Copy number loss	See cases	GPathogenic
Select item 146740	GRCh38/hg38 6p25.3(chr6:265806-588274)x3	DUSP22, EXOC2 +56 more	Copy number gain	See cases	GBenign
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 144907	GRCh38/hg38 6p25.3(chr6:490850-700078)x3	EXOC2, HUS1B +7 more	Copy number gain	See cases	GBenign
Select item 712583	NM_018303.6(EXOC2):c.1759G>A (p.Val587Ile)	EXOC2, LOC126859547 (V587I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2558755	NM_018303.6(EXOC2):c.1756T>A (p.Cys586Ser)	EXOC2, LOC126859547 (C586S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460609	NM_018303.6(EXOC2):c.1753C>T (p.Arg585Cys)	EXOC2, LOC126859547 (R585C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301238	NM_018303.6(EXOC2):c.1750G>A (p.Val584Ile)	EXOC2, LOC126859547 (V584I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294353	NM_018303.6(EXOC2):c.1743T>A (p.Asp581Glu)	EXOC2, LOC126859547 (D581E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1074298	NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser)	EXOC2, LOC126859547 (L580S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic
Select item 3091027	NM_018303.6(EXOC2):c.1726C>A (p.Gln576Lys)	EXOC2, LOC126859547 (Q576K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276759	NM_018303.6(EXOC2):c.1706A>G (p.Asn569Ser)	EXOC2, LOC126859547 (N569S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407378	NM_018303.6(EXOC2):c.1645G>A (p.Ala549Thr)	EXOC2, LOC126859547 (A549T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656166	NM_018303.6(EXOC2):c.1632C>T (p.Ser544=)	EXOC2, LOC126859547	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2367784	NM_018303.6(EXOC2):c.1624G>A (p.Glu542Lys)	EXOC2, LOC126859547 (E542K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354158	NM_018303.6(EXOC2):c.1603G>A (p.Gly535Arg)	EXOC2, LOC126859547 (G535R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727093	NM_018303.6(EXOC2):c.1554C>T (p.Arg518=)	EXOC2, LOC126859547	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3276755	NM_018303.6(EXOC2):c.1553G>A (p.Arg518His)	EXOC2, LOC126859547 (R518H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602834	NM_018303.6(EXOC2):c.1532A>T (p.His511Leu)	EXOC2, LOC126859547 (H511L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 48