ClinVar for Gene (Select 26175) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292400	NM_001098621.4(LYSET):c.428A>G (p.Asn143Ser)	LYSET (N111S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121721	NM_001098621.4(LYSET):c.470G>C (p.Arg157Thr)	LYSET (R125T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121720	NM_001098621.4(LYSET):c.348G>C (p.Leu116Phe)	LYSET (L116F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057084	NM_001098621.4(LYSET):c.263C>T (p.Thr88Ile)	LYSET (T56I +1 more)	Single nucleotide variant (missense variant)	LYSET-related disorder	GLikely benign
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 2600584	NM_001098621.4(LYSET):c.-11C>T	LYSET	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 2513714	NM_001098621.4(LYSET):c.157G>A (p.Ala53Thr)	LYSET (A21T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492720	NM_001098621.4(LYSET):c.88G>T (p.Ala30Ser)	LYSET (A30S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490270	NM_001098621.4(LYSET):c.311C>T (p.Thr104Ile)	LYSET (T72I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483355	NM_001098621.4(LYSET):c.34G>A (p.Asp12Asn)	LYSET (D12N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464242	NM_001098621.4(LYSET):c.322C>A (p.Leu108Met)	LYSET (L76M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1120021	NM_001098621.4(LYSET):c.197dup (p.Tyr66Ter)	LYSET (Y34* +1 more)	Duplication (nonsense)	Dysostosis multiplex, Ain-Naz type	GPathogenic
Select item 1120020	NM_001098621.4(LYSET):c.115C>T (p.Arg39Trp)	LYSET (R39W +1 more)	Single nucleotide variant (missense variant)	Dysostosis multiplex, Ain-Naz type	GPathogenic
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 807354	NM_001098621.4(LYSET):c.216dup (p.His73fs)	LYSET (H73fs +1 more)	Duplication (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	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 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
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 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 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 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 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

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Links from Gene

Items: 37