ClinVar for Gene (Select 117283) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286288	NM_054111.5(IP6K3):c.871G>A (p.Gly291Arg)	IP6K3 (G291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286287	NM_054111.5(IP6K3):c.1076G>C (p.Gly359Ala)	IP6K3 (G359A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286286	NM_054111.5(IP6K3):c.961T>C (p.Phe321Leu)	IP6K3 (F321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286285	NM_054111.5(IP6K3):c.697G>C (p.Ala233Pro)	IP6K3 (A233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286284	NM_054111.5(IP6K3):c.19G>A (p.Ala7Thr)	IP6K3 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286283	NM_054111.5(IP6K3):c.452A>G (p.Asn151Ser)	IP6K3 (N151S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286282	NM_054111.5(IP6K3):c.583C>T (p.Arg195Trp)	IP6K3 (R195W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286281	NM_054111.5(IP6K3):c.1060G>A (p.Gly354Ser)	IP6K3 (G354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110289	NM_054111.5(IP6K3):c.989A>G (p.Tyr330Cys)	IP6K3 (Y330C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110288	NM_054111.5(IP6K3):c.986T>C (p.Ile329Thr)	IP6K3 (I329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110287	NM_054111.5(IP6K3):c.626C>T (p.Thr209Met)	IP6K3 (T209M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110286	NM_054111.5(IP6K3):c.584G>A (p.Arg195Gln)	IP6K3 (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110285	NM_054111.5(IP6K3):c.46G>A (p.Val16Met)	IP6K3 (V16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110284	NM_054111.5(IP6K3):c.443C>T (p.Pro148Leu)	IP6K3 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110283	NM_054111.5(IP6K3):c.107A>G (p.Glu36Gly)	IP6K3 (E36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623598	NM_054111.5(IP6K3):c.913C>G (p.Gln305Glu)	IP6K3 (Q305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618638	NM_054111.5(IP6K3):c.565G>A (p.Glu189Lys)	IP6K3 (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602732	NM_054111.5(IP6K3):c.76G>A (p.Gly26Arg)	IP6K3 (G26R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2596344	NM_054111.5(IP6K3):c.212T>C (p.Val71Ala)	IP6K3 (V71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533979	NM_054111.5(IP6K3):c.919C>G (p.Arg307Gly)	IP6K3 (R307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524825	NM_054111.5(IP6K3):c.902C>A (p.Pro301His)	IP6K3 (P301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524124	NM_054111.5(IP6K3):c.737G>A (p.Cys246Tyr)	IP6K3 (C246Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507743	NM_054111.5(IP6K3):c.28G>A (p.Gly10Arg)	IP6K3 (G10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484059	NM_054111.5(IP6K3):c.1097G>A (p.Arg366His)	IP6K3 (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467939	NM_054111.5(IP6K3):c.979C>G (p.Leu327Val)	IP6K3 (L327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2400986	NM_054111.5(IP6K3):c.358G>A (p.Asp120Asn)	IP6K3 (D120N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389871	NM_054111.5(IP6K3):c.164C>T (p.Pro55Leu)	IP6K3 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358313	NM_054111.5(IP6K3):c.91G>A (p.Val31Met)	IP6K3 (V31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336948	NM_054111.5(IP6K3):c.757G>C (p.Gly253Arg)	IP6K3 (G253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327290	NM_054111.5(IP6K3):c.889G>A (p.Glu297Lys)	IP6K3 (E297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321652	NM_054111.5(IP6K3):c.676G>T (p.Asp226Tyr)	IP6K3 (D226Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306332	NM_054111.5(IP6K3):c.517C>A (p.Pro173Thr)	IP6K3 (P173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304803	NM_054111.5(IP6K3):c.397C>A (p.Arg133Ser)	IP6K3 (R133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272622	NM_054111.5(IP6K3):c.554G>A (p.Arg185His)	IP6K3 (R185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252254	NM_054111.5(IP6K3):c.515A>G (p.Asn172Ser)	IP6K3 (N172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242149	NM_054111.5(IP6K3):c.884G>A (p.Arg295Gln)	IP6K3 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215294	NM_054111.5(IP6K3):c.360C>A (p.Asp120Glu)	IP6K3 (D120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213025	NM_054111.5(IP6K3):c.1096C>T (p.Arg366Cys)	IP6K3 (R366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46