INKA1[gene] - ClinVar

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Items: 33

	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 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 3109702	NM_203370.2(INKA1):c.55T>G (p.Cys19Gly)	INKA1 (C19G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3286021	NM_203370.2(INKA1):c.162G>C (p.Leu54Phe)	INKA1 (L27F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529088	NM_203370.2(INKA1):c.205G>A (p.Glu69Lys)	INKA1 (E42K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109697	NM_203370.2(INKA1):c.227A>G (p.Glu76Gly)	INKA1 (E76G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109698	NM_203370.2(INKA1):c.247G>A (p.Gly83Arg)	INKA1 (G56R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286024	NM_203370.2(INKA1):c.250G>T (p.Gly84Cys)	INKA1 (G84C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109699	NM_203370.2(INKA1):c.313C>G (p.Arg105Gly)	INKA1 (R78G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286020	NM_203370.2(INKA1):c.314G>T (p.Arg105Leu)	INKA1 (R78L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109700	NM_203370.2(INKA1):c.341G>A (p.Arg114His)	INKA1 (R114H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286025	NM_203370.2(INKA1):c.377G>A (p.Cys126Tyr)	INKA1 (C99Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109701	NM_203370.2(INKA1):c.409A>G (p.Arg137Gly)	INKA1 (R110G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521976	NM_203370.2(INKA1):c.448C>T (p.Arg150Trp)	INKA1 (R123W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529091	NM_203370.2(INKA1):c.541C>T (p.Arg181Cys)	INKA1 (R154C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529090	NM_203370.2(INKA1):c.582G>C (p.Leu194Phe)	INKA1 (L167F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109703	NM_203370.2(INKA1):c.631G>A (p.Gly211Arg)	INKA1 (G184R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109704	NM_203370.2(INKA1):c.695G>A (p.Arg232Gln)	INKA1 (R205Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286023	NM_203370.2(INKA1):c.697C>T (p.Arg233Cys)	INKA1 (R206C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529092	NM_203370.2(INKA1):c.719G>A (p.Arg240Gln)	INKA1 (R213Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286022	NM_203370.2(INKA1):c.790C>T (p.Arg264Cys)	INKA1 (R237C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529089	NM_203370.2(INKA1):c.805A>G (p.Met269Val)	INKA1 (M269V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109705	NM_203370.2(INKA1):c.814C>T (p.Arg272Cys)	INKA1 (R272C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512437	NM_203370.2(INKA1):c.821G>A (p.Arg274His)	INKA1 (R247H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109706	NM_203370.2(INKA1):c.844G>A (p.Val282Ile)	INKA1 (V255I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391820	GRCh37/hg19 3p21.31-21.2(chr3:48855503-51285217)x3	DALRD3, MST1 +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	ARIH2, ARIH2OS +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 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: 33