ClinVar for Gene (Select 3705) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286964	NM_014216.6(ITPK1):c.76G>A (p.Ala26Thr)	ITPK1 (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286963	NM_014216.6(ITPK1):c.186C>T (p.Asp62=)	ITPK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3286962	NM_014216.6(ITPK1):c.1144G>A (p.Ala382Thr)	ITPK1 (A382T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286961	NM_014216.6(ITPK1):c.1037C>T (p.Ala346Val)	ITPK1 (A227V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3111690	NM_014216.6(ITPK1):c.844A>G (p.Ile282Val)	ITPK1 (I282V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111689	NM_014216.6(ITPK1):c.620A>G (p.Tyr207Cys)	ITPK1 (Y88C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111688	NM_014216.6(ITPK1):c.505A>T (p.Met169Leu)	ITPK1 (M169L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111687	NM_014216.6(ITPK1):c.1214C>T (p.Ala405Val)	ITPK1 (A405V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111686	NM_014216.6(ITPK1):c.1180G>A (p.Gly394Ser)	ITPK1 (G275S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3111685	NM_014216.6(ITPK1):c.1154C>T (p.Pro385Leu)	ITPK1 (P266L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111684	NM_014216.6(ITPK1):c.1069G>A (p.Ala357Thr)	ITPK1 (A238T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111683	NM_014216.6(ITPK1):c.1052G>A (p.Gly351Asp)	ITPK1 (G232D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684745	GRCh37/hg19 14q32.12(chr14:93241006-93633849)x3	CHGA, GOLGA5 +1 more	Copy number gain	not provided	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 2644471	NM_014216.6(ITPK1):c.402G>A (p.Thr134=)	ITPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606153	NM_014216.6(ITPK1):c.268G>A (p.Glu90Lys)	ITPK1 (E90K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599061	NM_014216.6(ITPK1):c.800G>A (p.Arg267Gln)	ITPK1 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594522	NM_014216.6(ITPK1):c.877G>A (p.Val293Ile)	ITPK1 (V293I +1 more)	Single nucleotide variant (missense variant)	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 2559003	NM_014216.6(ITPK1):c.1000G>A (p.Ala334Thr)	ITPK1 (A215T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522753	NM_014216.6(ITPK1):c.979A>G (p.Met327Val)	ITPK1 (M208V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508087	NM_014216.6(ITPK1):c.494A>G (p.Asn165Ser)	ITPK1 (N165S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458706	NM_014216.6(ITPK1):c.1132G>A (p.Ala378Thr)	ITPK1 (A259T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455661	NM_014216.6(ITPK1):c.1189C>T (p.Pro397Ser)	ITPK1 (P278S +1 more)	Single nucleotide variant (missense variant +1 more)	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 2401201	NM_014216.6(ITPK1):c.1238C>T (p.Ser413Phe)	ITPK1 (S294F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391726	NM_014216.6(ITPK1):c.1087G>A (p.Gly363Ser)	ITPK1 (G363S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2390731	NM_014216.6(ITPK1):c.428G>A (p.Arg143Gln)	ITPK1 (R24Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379045	NM_014216.6(ITPK1):c.256G>A (p.Asp86Asn)	ITPK1 (D86N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371051	NM_014216.6(ITPK1):c.1183G>A (p.Val395Met)	ITPK1 (V276M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2355712	NM_014216.6(ITPK1):c.1138G>A (p.Gly380Ser)	ITPK1 (G261S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2354993	NM_014216.6(ITPK1):c.*3073G>A	ITPK1 (D314N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341613	NM_014216.6(ITPK1):c.767G>A (p.Arg256Gln)	ITPK1 (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330283	NM_014216.6(ITPK1):c.1135G>A (p.Gly379Ser)	ITPK1 (G379S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306589	NM_014216.6(ITPK1):c.215G>A (p.Ser72Asn)	ITPK1 (S72N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305263	NM_014216.6(ITPK1):c.702C>G (p.Asn234Lys)	ITPK1 (N115K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272489	NM_014216.6(ITPK1):c.817C>A (p.Leu273Met)	ITPK1 (L154M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260188	NM_014216.6(ITPK1):c.119A>G (p.Gln40Arg)	ITPK1 (Q40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236270	NM_014216.6(ITPK1):c.775G>A (p.Asp259Asn)	ITPK1 (D140N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215843	NM_014216.6(ITPK1):c.1223C>T (p.Ala408Val)	ITPK1 (A289V +1 more)	Single nucleotide variant (missense variant +1 more)	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 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	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 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 441942	GRCh37/hg19 14q32.12(chr14:93001577-93605662)x3	CHGA, GOLGA5 +3 more	Copy number gain	See cases	GUncertain significance
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 218703	NM_014216.6(ITPK1):c.874G>A (p.Ala292Thr)	ITPK1 (A292T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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: 63