6177[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056481, LOC130056482 +1072 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 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 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3286963	NM_014216.6(ITPK1):c.186C>T (p.Asp62=)	ITPK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 3286964	NM_014216.6(ITPK1):c.76G>A (p.Ala26Thr)	ITPK1 (A26T)	Single nucleotide variant (missense variant)	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 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	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63