17313[HGNC] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2316084	NM_016291.4(IP6K2):c.1258A>C (p.Ile420Leu)	IP6K2 (I420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352797	NM_016291.4(IP6K2):c.1120G>A (p.Ala374Thr)	IP6K2 (A374T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374884	NM_016291.4(IP6K2):c.1094G>A (p.Gly365Asp)	IP6K2 (G365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110282	NM_016291.4(IP6K2):c.974G>A (p.Arg325His)	IP6K2 (R325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310265	NM_016291.4(IP6K2):c.889C>T (p.Arg297Trp)	IP6K2 (R297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653806	NM_016291.4(IP6K2):c.817A>C (p.Asn273His)	IP6K2 (N273H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2339726	NM_016291.4(IP6K2):c.716A>C (p.Asn239Thr)	IP6K2 (N239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370099	NM_016291.4(IP6K2):c.691G>A (p.Asp231Asn)	IP6K2 (D231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541582	NM_016291.4(IP6K2):c.634C>T (p.Arg212Cys)	IP6K2 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110280	NM_016291.4(IP6K2):c.593G>A (p.Arg198Gln)	IP6K2 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110279	NM_016291.4(IP6K2):c.592C>T (p.Arg198Trp)	IP6K2 (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476329	NM_016291.4(IP6K2):c.455G>T (p.Trp152Leu)	IP6K2 (W152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110278	NM_016291.4(IP6K2):c.397C>T (p.Arg133Cys)	IP6K2 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257262	NM_016291.4(IP6K2):c.235G>A (p.Asp79Asn)	IP6K2 (D79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286280	NM_016291.4(IP6K2):c.218G>A (p.Arg73His)	IP6K2 (R73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110276	NM_016291.4(IP6K2):c.217C>A (p.Arg73Ser)	IP6K2 (R73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286279	NM_016291.4(IP6K2):c.107A>G (p.Asn36Ser)	IP6K2 (N91S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591309	NM_016291.4(IP6K2):c.97C>T (p.Leu33Phe)	IP6K2 (L33F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110277	NM_016291.4(IP6K2):c.35C>A (p.Pro12His)	IP6K2 (P12H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110275	NM_016291.4(IP6K2):c.16A>G (p.Arg6Gly)	IP6K2 (R61G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 30