"PreventionGenetics, part of Exact Sciences"[submitter] AND "ALPK1"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2070364	NM_025144.4(ALPK1):c.32T>C (p.Leu11Pro)	ALPK1 (L11P)	Single nucleotide variant (missense variant +1 more)	ALPK1-related disorder +2 more	GUncertain significance
Select item 2068709	NM_025144.4(ALPK1):c.54G>A (p.Leu18=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3038268	NM_025144.4(ALPK1):c.623-5_623-4dup	ALPK1	Duplication (intron variant)	ALPK1-related disorder	GLikely benign
Select item 2076280	NM_025144.4(ALPK1):c.692A>G (p.Asp231Gly)	ALPK1 (D153G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 619031	NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)	ALPK1 (T237M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 3044405	NM_025144.4(ALPK1):c.786A>G (p.Gln262=)	ALPK1	Single nucleotide variant (synonymous variant)	ALPK1-related disorder	GLikely benign
Select item 2048477	NM_025144.4(ALPK1):c.878C>A (p.Pro293Gln)	ALPK1 (P215Q +1 more)	Single nucleotide variant (missense variant)	ALPK1-related disorder +1 more	GBenign/Likely benign
Select item 2048882	NM_025144.4(ALPK1):c.1569G>A (p.Met523Ile)	ALPK1 (M523I +1 more)	Single nucleotide variant (missense variant)	ALPK1-related disorder +1 more	GBenign/Likely benign
Select item 2629006	NM_025144.4(ALPK1):c.1810G>T (p.Asp604Tyr)	ALPK1 (D526Y +1 more)	Single nucleotide variant (missense variant)	ALPK1-related disorder	GUncertain significance
Select item 2071171	NM_025144.4(ALPK1):c.1894G>C (p.Asp632His)	ALPK1 (D554H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2055077	NM_025144.4(ALPK1):c.2904G>C (p.Glu968Asp)	ALPK1 (E968D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2070104	NM_025144.4(ALPK1):c.3025C>G (p.Arg1009Gly)	ALPK1 (R931G +1 more)	Single nucleotide variant (missense variant)	ALPK1-related disorder +1 more	GLikely benign
Select item 2044149	NM_025144.4(ALPK1):c.3451_3452del (p.Glu1151fs)	ALPK1 (E1073fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GBenign/Likely benign