"PreventionGenetics, part of Exact Sciences"[submitter] AND "LRPAP1"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041339	NM_002337.4(LRPAP1):c.*5A>G	LRPAP1	Single nucleotide variant (3 prime UTR variant +1 more)	LRPAP1-related disorder	GLikely benign
Select item 715598	NM_002337.4(LRPAP1):c.989G>A (p.Arg330Gln)	LOC126806953, LRPAP1 (R330Q)	Single nucleotide variant (missense variant +1 more)	LRPAP1-related disorder +1 more	GLikely benign
Select item 3049703	NM_002337.4(LRPAP1):c.752-9C>A	LRPAP1	Single nucleotide variant (intron variant)	LRPAP1-related disorder	GLikely benign
Select item 3059677	NM_002337.4(LRPAP1):c.750T>C (p.Ala250=)	LRPAP1	Single nucleotide variant (synonymous variant +1 more)	LRPAP1-related disorder	GBenign
Select item 770708	NM_002337.4(LRPAP1):c.631G>A (p.Asp211Asn)	LRPAP1 (D211N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 746871	NM_002337.4(LRPAP1):c.592+10G>A	LRPAP1	Single nucleotide variant (intron variant)	LRPAP1-related disorder +1 more	GBenign/Likely benign
Select item 780455	NM_002337.4(LRPAP1):c.552C>T (p.His184=)	LRPAP1	Single nucleotide variant (synonymous variant +1 more)	LRPAP1-related disorder +1 more	GBenign/Likely benign
Select item 723992	NM_002337.4(LRPAP1):c.498C>T (p.Gly166=)	LRPAP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 721072	NM_002337.4(LRPAP1):c.496G>A (p.Gly166Ser)	LRPAP1 (G166S)	Single nucleotide variant (missense variant +1 more)	LRPAP1-related disorder +1 more	GBenign
Select item 708767	NM_002337.4(LRPAP1):c.110G>C (p.Arg37Pro)	LOC129992120, LRPAP1 (R37P)	Single nucleotide variant (missense variant)	LRPAP1-related disorder +1 more	GBenign
Select item 723993	NM_002337.4(LRPAP1):c.81C>T (p.Pro27=)	LOC129992120, LRPAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 755495	NM_002337.4(LRPAP1):c.9G>C (p.Pro3=)	LOC129992120, LRPAP1	Single nucleotide variant (synonymous variant)	LRPAP1-related disorder +1 more	GLikely benign