DGLUCY[gene] - 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 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58334	GRCh38/hg38 14q32.11(chr14:90495001-91296461)x3	CCDC88C, DGLUCY +45 more	Copy number gain	See cases	GUncertain significance
Select item 2262186	NM_004755.4(RPS6KA5):c.92A>T (p.Glu31Val)	DGLUCY, LOC130056290 +1 more (E31V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2467303	NM_004755.4(RPS6KA5):c.62G>T (p.Gly21Val)	DGLUCY, RPS6KA5 (G21V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2540711	NM_004755.4(RPS6KA5):c.56G>T (p.Gly19Val)	DGLUCY, RPS6KA5 (G19V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2600829	NM_004755.4(RPS6KA5):c.52G>C (p.Gly18Arg)	DGLUCY, RPS6KA5 (G18R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2251395	NM_004755.4(RPS6KA5):c.50A>G (p.Asp17Gly)	DGLUCY, RPS6KA5 (D17G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356001	NM_004755.4(RPS6KA5):c.22A>C (p.Ser8Arg)	DGLUCY, RPS6KA5 (S8R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3082001	NM_001102368.3(DGLUCY):c.940C>T (p.Arg314Trp)	DGLUCY (R297W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081996	NM_001102368.3(DGLUCY):c.1150G>A (p.Ala384Thr)	DGLUCY (A379T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081997	NM_001102368.3(DGLUCY):c.1259C>T (p.Ala420Val)	DGLUCY (A415V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081998	NM_001102368.3(DGLUCY):c.1327G>A (p.Gly443Arg)	DGLUCY (G438R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081999	NM_001102368.3(DGLUCY):c.1765G>A (p.Val589Ile)	DGLUCY (V549I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082000	NM_001102368.3(DGLUCY):c.1811A>G (p.Asn604Ser)	DGLUCY (N547S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
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 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1808480	GRCh37/hg19 14q32.11(chr14:91352234-91669929)x1	DGLUCY, RPS6KA5	Copy number loss	not provided	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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526433	GRCh37/hg19 14q32.11(chr14:91006120-91753359)	CCDC88C, DGLUCY +3 more	Copy number gain	not specified	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 687694	GRCh37/hg19 14q32.11(chr14:91463224-91684578)x3	DGLUCY, RPS6KA5	Copy number gain	not provided	GUncertain significance
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 564122	GRCh37/hg19 14q32.11-32.12(chr14:91355698-91945296)x3	DGLUCY, CCDC88C +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
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