"SERPIND1-related disorder"[Disease/phenotype] AND "PreventionGenetics - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041598	NM_000185.4(SERPIND1):c.118C>T (p.Pro40Ser)	PI4KA, SERPIND1 (P40S)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 1269862	NM_000185.4(SERPIND1):c.285C>T (p.Ile95=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3049326	NM_000185.4(SERPIND1):c.286G>A (p.Val96Ile)	PI4KA, SERPIND1 (V96I)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3055203	NM_000185.4(SERPIND1):c.420G>C (p.Val140=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3030144	NM_000185.4(SERPIND1):c.465C>T (p.Pro155=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3049069	NM_000185.4(SERPIND1):c.830C>T (p.Ala277Val)	PI4KA, SERPIND1 (A277V)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 809323	NM_000185.4(SERPIND1):c.842T>C (p.Ile281Thr)	PI4KA, SERPIND1 (I281T)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3043506	NM_000185.4(SERPIND1):c.999C>T (p.Leu333=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 710163	NM_000185.4(SERPIND1):c.1164-5T>C	PI4KA, SERPIND1	Single nucleotide variant (intron variant)	SERPIND1-related disorder +1 more	GBenign/Likely benign
Select item 3033976	NM_000185.4(SERPIND1):c.1325C>T (p.Thr442Met)	PI4KA, SERPIND1 (T442M)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3051436	NM_000185.4(SERPIND1):c.1338C>T (p.Asn446=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related disorder	GLikely benign