"GeneDx"[submitter] AND "PPIP5K2"[gene] - ClinVar

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Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 1273990	NM_001276277.3(PPIP5K2):c.-284-87G>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261411	NM_001276277.3(PPIP5K2):c.401+34A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246769	NM_001276277.3(PPIP5K2):c.643-104T>A	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248014	NM_001276277.3(PPIP5K2):c.643-35G>A	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267245	NM_001276277.3(PPIP5K2):c.907-234G>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259606	NM_001276277.3(PPIP5K2):c.1029-169G>A	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280414	NM_001276277.3(PPIP5K2):c.1029-163C>T	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266392	NM_001276277.3(PPIP5K2):c.1130+118T>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283907	NM_001276277.3(PPIP5K2):c.1131-41T>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265614	NM_001276277.3(PPIP5K2):c.1294-17A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237003	NM_001276277.3(PPIP5K2):c.1404-111A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250418	NM_001276277.3(PPIP5K2):c.1738-99A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268816	NM_001276277.3(PPIP5K2):c.1921-49G>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222268	NM_001276277.3(PPIP5K2):c.2062+40T>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145935	GRCh38/hg38 5q21.1(chr5:103168211-103253336)x3	LOC129994304, PPIP5K2	Copy number gain	See cases	GLikely benign
Select item 1232839	NM_001276277.3(PPIP5K2):c.2287-210G>T	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260305	NM_001276277.3(PPIP5K2):c.2637+33A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250056	NM_001276277.3(PPIP5K2):c.2754+102T>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243426	NM_001276277.3(PPIP5K2):c.2923-140A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279099	NM_001276277.3(PPIP5K2):c.3124A>C (p.Arg1042=)	PPIP5K2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1236577	NM_001276277.3(PPIP5K2):c.3170-125T>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243920	NM_001276277.3(PPIP5K2):c.3483C>T (p.Thr1161=)	PPIP5K2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1243734	NM_001276277.3(PPIP5K2):c.3620-23T>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174257	NM_001276277.3(PPIP5K2):c.3682A>G (p.Ser1228Gly)	PPIP5K2 (S1108G +10 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1297810	NM_001276277.3(PPIP5K2):c.3695C>T (p.Thr1232Met)	PPIP5K2 (T1112M +10 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1242953	NM_001276277.3(PPIP5K2):c.*22T>C	PPIP5K2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1241085	NM_001276277.3(PPIP5K2):c.*44A>G	PPIP5K2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 30