"PreventionGenetics, part of Exact Sciences"[submitter] AND "PPFIA1"[g - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058574	NM_003626.5(PPFIA1):c.9C>T (p.Cys3=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3038874	NM_003626.5(PPFIA1):c.87G>T (p.Gln29His)	PPFIA1 (Q29H)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3058448	NM_003626.5(PPFIA1):c.132A>G (p.Leu44=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3031918	NM_003626.5(PPFIA1):c.180G>C (p.Thr60=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3055877	NM_003626.5(PPFIA1):c.211G>A (p.Val71Ile)	PPFIA1 (V71I)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3034190	NM_003626.5(PPFIA1):c.867G>A (p.Thr289=)	LOC105369373, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3048088	NM_003626.5(PPFIA1):c.1085A>G (p.Asp362Gly)	PPFIA1 (D362G)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3044332	NM_003626.5(PPFIA1):c.1132C>T (p.Leu378=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3035612	NM_003626.5(PPFIA1):c.1203G>A (p.Ala401=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3048351	NM_003626.5(PPFIA1):c.1297-4_1297-3dup	PPFIA1	Duplication (intron variant)	PPFIA1-related disorder	GLikely benign
Select item 3034227	NM_003626.5(PPFIA1):c.1305A>G (p.Gln435=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3053290	NM_003626.5(PPFIA1):c.1523G>A (p.Arg508Lys)	PPFIA1 (R508K +1 more)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3060161	NM_003626.5(PPFIA1):c.1620C>T (p.Asp540=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3057155	NM_003626.5(PPFIA1):c.1849C>T (p.Leu617=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3051857	NM_003626.5(PPFIA1):c.1869C>T (p.Ala623=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3052327	NM_003626.5(PPFIA1):c.2064G>C (p.Ser688=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3059202	NM_003626.5(PPFIA1):c.2286C>T (p.Val762=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3058723	NM_003626.5(PPFIA1):c.2315+9C>T	PPFIA1	Single nucleotide variant (intron variant)	PPFIA1-related disorder	GLikely benign
Select item 3050289	NM_003626.5(PPFIA1):c.2451C>T (p.Gly817=)	PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 2635095	NM_003626.5(PPFIA1):c.2822T>C (p.Ile941Thr)	PPFIA1 (I941T +1 more)	Single nucleotide variant (missense variant +1 more)	PPFIA1-related disorder	GUncertain significance
Select item 3052978	NM_003626.5(PPFIA1):c.3139+9A>C	CTTN-DT, PPFIA1	Single nucleotide variant (intron variant)	PPFIA1-related disorder	GLikely benign
Select item 3045161	NM_003626.5(PPFIA1):c.3234C>T (p.His1078=)	CTTN-DT, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3044443	NM_003626.5(PPFIA1):c.3276A>G (p.Ala1092=)	CTTN-DT, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GBenign
Select item 3059748	NM_003626.5(PPFIA1):c.3315+5C>T	CTTN-DT, PPFIA1	Single nucleotide variant (intron variant)	PPFIA1-related disorder	GBenign
Select item 3058077	NM_003626.5(PPFIA1):c.3351T>C (p.Leu1117=)	CTTN-DT, PPFIA1	Single nucleotide variant (synonymous variant +1 more)	PPFIA1-related disorder	GLikely benign
Select item 3050455	NM_003626.5(PPFIA1):c.3550+17A>G	CTTN-DT, PPFIA1	Single nucleotide variant (3 prime UTR variant +1 more)	PPFIA1-related disorder	GBenign

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Items: 26