4517[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 149167	GRCh38/hg38 14q31.3(chr14:86155419-88321735)x3	GALC, GPR65 +26 more	Copy number gain	See cases	GLikely benign
Select item 144379	GRCh38/hg38 14q31.3(chr14:87746480-88540154)x3	GALC, GPR65 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2387595	NM_003608.4(GPR65):c.87T>G (p.Ile29Met)	GPR65 (I29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321324	NM_003608.4(GPR65):c.116C>T (p.Ser39Phe)	GPR65 (S39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282429	NM_003608.4(GPR65):c.187T>G (p.Tyr63Asp)	GPR65 (Y63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315525	NM_003608.4(GPR65):c.325G>A (p.Ala109Thr)	GPR65 (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282428	NM_003608.4(GPR65):c.386G>C (p.Arg129Thr)	GPR65 (R129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530952	NM_003608.4(GPR65):c.404G>A (p.Ser135Asn)	GPR65 (S135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352590	NM_003608.4(GPR65):c.466G>A (p.Val156Ile)	GPR65 (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310315	NM_003608.4(GPR65):c.496A>T (p.Asn166Tyr)	GPR65 (N166Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298116	NM_003608.4(GPR65):c.580A>G (p.Ile194Val)	GPR65 (I194V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101820	NM_003608.4(GPR65):c.644C>T (p.Ala215Val)	GPR65 (A215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101821	NM_003608.4(GPR65):c.800G>A (p.Arg267Gln)	GPR65 (R267Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390370	NM_003608.4(GPR65):c.902T>C (p.Met301Thr)	GPR65 (M301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2426470	NC_000014.8:g.(?_88391407)_(89343754_?)dup	EML5, GALC +6 more	Duplication	Leber congenital amaurosis 3	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807575	GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3	FOXN3, GALC +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527833	GRCh37/hg19 14q31.3(chr14:88429733-88503392)	GALC, GPR65	Copy number gain	not specified	GUncertain significance
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1527830	GRCh37/hg19 14q31.2-31.3(chr14:84325247-89218538)	EML5, FLRT2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 815673	GRCh37/hg19 14q31.3(chr14:88452876-88662600)x3	GALC, GPR65 +1 more	Copy number gain	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442989	GRCh37/hg19 14q31.3(chr14:88123942-88970366)x1	GALC, GPR65 +3 more	Copy number loss	See cases	GUncertain significance
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 37