"PreventionGenetics, part of Exact Sciences"[submitter] AND "ALPI"[gen - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042489	NM_001631.5(ALPI):c.-7C>G	ALPI	Single nucleotide variant (5 prime UTR variant)	ALPI-related disorder	GLikely benign
Select item 3038419	NM_001631.5(ALPI):c.58G>A (p.Val20Ile)	ALPI (V20I)	Single nucleotide variant (missense variant)	ALPI-related disorder	GBenign
Select item 3037342	NM_001631.5(ALPI):c.98G>T (p.Arg33Leu)	ALPI (R33L)	Single nucleotide variant (missense variant)	ALPI-related disorder	GBenign
Select item 3053635	NM_001631.5(ALPI):c.274C>T (p.Arg92Cys)	ALPI (R92C)	Single nucleotide variant (missense variant)	ALPI-related disorder	GBenign
Select item 3055586	NM_001631.5(ALPI):c.333C>T (p.Ser111=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GBenign
Select item 3037549	NM_001631.5(ALPI):c.431G>A (p.Arg144His)	ALPI (R144H)	Single nucleotide variant (missense variant)	ALPI-related disorder	GBenign
Select item 3040623	NM_001631.5(ALPI):c.438T>A (p.Asn146Lys)	ALPI (N146K)	Single nucleotide variant (missense variant)	ALPI-related disorder	GBenign
Select item 2628902	NM_001631.5(ALPI):c.487G>A (p.Gly163Arg)	ALPI (G163R)	Single nucleotide variant (missense variant)	ALPI-related disorder	GUncertain significance
Select item 3040610	NM_001631.5(ALPI):c.522G>A (p.Ser174=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign
Select item 3037335	NM_001631.5(ALPI):c.620C>T (p.Thr207Ile)	ALPI (T207I)	Single nucleotide variant (missense variant)	ALPI-related disorder	GBenign
Select item 3040507	NM_001631.5(ALPI):c.660C>T (p.Gly220=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign
Select item 3052933	NM_001631.5(ALPI):c.744C>T (p.Asp248=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign
Select item 3041973	NM_001631.5(ALPI):c.783+8G>A	ALPI	Single nucleotide variant (intron variant)	ALPI-related disorder	GBenign
Select item 3034146	NM_001631.5(ALPI):c.857-7C>T	ALPI	Single nucleotide variant (intron variant)	ALPI-related disorder	GLikely benign
Select item 3042796	NM_001631.5(ALPI):c.870C>T (p.Pro290=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GBenign
Select item 3056637	NM_001631.5(ALPI):c.1023T>C (p.Gly341=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GBenign
Select item 3057720	NM_001631.5(ALPI):c.1050G>A (p.Ala350=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign
Select item 3038142	NM_001631.5(ALPI):c.1065C>T (p.Asp355=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GBenign
Select item 3040517	NM_001631.5(ALPI):c.1095C>T (p.Ser365=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign
Select item 3039594	NM_001631.5(ALPI):c.1122C>T (p.Thr374=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign
Select item 3047811	NM_001631.5(ALPI):c.1185G>A (p.Gly395=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign
Select item 3042656	NM_001631.5(ALPI):c.1332G>A (p.Val444=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign
Select item 2350683	NM_001631.5(ALPI):c.1347G>C (p.Glu449Asp)	ALPI (E449D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3053263	NM_001631.5(ALPI):c.1488G>A (p.Ala496=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24