INKA2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 3286032	NM_019099.5(INKA2):c.851A>G (p.His284Arg)	INKA2 (H269R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109731	NM_019099.5(INKA2):c.848A>G (p.Glu283Gly)	INKA2 (E283G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109730	NM_019099.5(INKA2):c.836C>T (p.Pro279Leu)	INKA2 (P264L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286029	NM_019099.5(INKA2):c.827C>T (p.Thr276Ile)	INKA2 (T276I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109728	NM_019099.5(INKA2):c.826A>C (p.Thr276Pro)	INKA2 (T276P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109727	NM_019099.5(INKA2):c.796G>A (p.Gly266Arg)	INKA2 (G251R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109726	NM_019099.5(INKA2):c.787C>T (p.Pro263Ser)	INKA2 (P248S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286026	NM_019099.5(INKA2):c.755G>A (p.Ser252Asn)	INKA2 (S237N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555004	NM_019099.5(INKA2):c.751C>T (p.Arg251Trp)	INKA2 (R236W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109725	NM_019099.5(INKA2):c.718T>A (p.Ser240Thr)	INKA2 (S225T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286035	NM_019099.5(INKA2):c.704C>T (p.Pro235Leu)	INKA2 (P220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109724	NM_019099.5(INKA2):c.697G>T (p.Val233Leu)	INKA2 (V233L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109723	NM_019099.5(INKA2):c.692G>T (p.Gly231Val)	INKA2 (G216V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109722	NM_019099.5(INKA2):c.656G>A (p.Arg219Gln)	INKA2 (R219Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286030	NM_019099.5(INKA2):c.646C>G (p.Arg216Gly)	INKA2 (R201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623871	NM_019099.5(INKA2):c.630C>G (p.Ile210Met)	INKA2 (I195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109721	NM_019099.5(INKA2):c.605G>A (p.Arg202His)	INKA2 (R187H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568835	NM_019099.5(INKA2):c.604C>T (p.Arg202Cys)	INKA2 (R187C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109719	NM_019099.5(INKA2):c.593A>G (p.Gln198Arg)	INKA2 (Q198R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516110	NM_019099.5(INKA2):c.563G>A (p.Arg188His)	INKA2 (R188H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109716	NM_019099.5(INKA2):c.449G>A (p.Arg150Gln)	INKA2 (R135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609913	NM_019099.5(INKA2):c.442C>T (p.Arg148Trp)	INKA2 (R148W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286031	NM_019099.5(INKA2):c.437T>A (p.Met146Lys)	INKA2 (M146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109715	NM_019099.5(INKA2):c.404G>A (p.Arg135Gln)	INKA2 (R135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109714	NM_019099.5(INKA2):c.380G>A (p.Ser127Asn)	INKA2 (S112N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109712	NM_019099.5(INKA2):c.365C>G (p.Thr122Arg)	INKA2 (T122R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109711	NM_019099.5(INKA2):c.364A>G (p.Thr122Ala)	INKA2 (T107A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109710	NM_019099.5(INKA2):c.302G>A (p.Ser101Asn)	INKA2 (S86N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286027	NM_019099.5(INKA2):c.266C>T (p.Thr89Ile)	INKA2 (T89I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472298	NM_019099.5(INKA2):c.256G>A (p.Ala86Thr)	INKA2 (A71T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109709	NM_019099.5(INKA2):c.223G>A (p.Glu75Lys)	INKA2 (E60K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286033	NM_019099.5(INKA2):c.209C>T (p.Pro70Leu)	INKA2 (P55L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109708	NM_019099.5(INKA2):c.202G>A (p.Glu68Lys)	INKA2 (E53K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109707	NM_019099.5(INKA2):c.182G>T (p.Gly61Val)	INKA2 (G46V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545007	NM_019099.5(INKA2):c.133C>T (p.Leu45Phe)	INKA2 (L30F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109718	NM_019099.5(INKA2):c.54G>C (p.Glu18Asp)	INKA2, LOC129931193 (E18D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286028	NM_019099.5(INKA2):c.47A>G (p.Lys16Arg)	INKA2, LOC129931193 (K16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109717	NM_019099.5(INKA2):c.46A>G (p.Lys16Glu)	INKA2, LOC129931193 (K16E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109720	NM_019099.5(INKA2):c.5C>T (p.Thr2Met)	INKA2 (T2M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 52