ClinVar for Gene (Select 51527) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282985	NM_016472.5(GSKIP):c.172C>T (p.Arg58Trp)	GSKIP (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102917	NM_016472.5(GSKIP):c.302C>T (p.Thr101Ile)	GSKIP (T101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102916	NM_016472.5(GSKIP):c.129T>A (p.Asp43Glu)	GSKIP (D43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034624	NM_016472.5(GSKIP):c.-1-7_-1-5del	GSKIP	Deletion (intron variant)	GSKIP-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 2484111	NM_016472.5(GSKIP):c.182A>C (p.Asp61Ala)	GSKIP (D61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471050	NM_016472.5(GSKIP):c.34A>G (p.Ser12Gly)	GSKIP (S12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471049	NM_016472.5(GSKIP):c.33C>A (p.Ser11Arg)	GSKIP (S11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469607	NM_016472.5(GSKIP):c.222C>G (p.Asn74Lys)	GSKIP (N74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443138	NM_016472.5(GSKIP):c.82A>T (p.Thr28Ser)	GSKIP (T28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	AK7, ATG2B +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2224521	NM_016472.5(GSKIP):c.106G>A (p.Glu36Lys)	GSKIP (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208416	NM_016472.5(GSKIP):c.409G>A (p.Gly137Arg)	GSKIP (G137R)	Single nucleotide variant (missense variant)	not specified	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 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 1293844	NM_016472.5(GSKIP):c.-1-5dup	GSKIP	Duplication (intron variant)	not provided	GBenign
Select item 1278620	NC_000014.9:g.96363661G>A	ATG2B, GSKIP +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270285	NM_016472.5(GSKIP):c.-1-107T>C	GSKIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238084	NM_016472.5(GSKIP):c.258+57A>G	GSKIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225936	NM_016472.5(GSKIP):c.*50T>C	GSKIP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +112 more	Copy number loss	See cases	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 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 564120	GRCh37/hg19 14q32.2(chr14:96641506-97154180)x3	BDKRB1, PAPOLA-DT +5 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
Select item 208237	NC_000014.9:g.95696766_96390792dup	LOC126862036, LOC126862037 +30 more	Duplication	Thrombocythemia 1 +2 more	GLikely pathogenic
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 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	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 58336	GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3	AK7, ATG2B +20 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 42