"GeneDx"[submitter] AND "INPP5K"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 3369257	NM_016532.4(INPP5K):c.1339C>T (p.Gln447Ter)	INPP5K (Q371* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1305951	NM_016532.4(INPP5K):c.1142G>C (p.Trp381Ser)	INPP5K (W305S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310801	NM_016532.4(INPP5K):c.569T>A (p.Phe190Tyr)	INPP5K (F114Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185400	NM_016532.4(INPP5K):c.554+16del	INPP5K	Deletion (intron variant)	Congenital muscular dystrophy with cataracts and intellectual disability +1 more	GBenign
Select item 1309634	NM_016532.4(INPP5K):c.279G>A (p.Met93Ile)	INPP5K (M17I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1799521	NM_016532.4(INPP5K):c.152+5G>T	INPP5K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 417777	NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr)	INPP5K (I50T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 253733	GRCh37/hg19 17p13.3(chr17:1409783-1857577)x1	INPP5K, MIR22 +12 more	Copy number loss	See cases	GUncertain significance
Select item 253567	GRCh37/hg19 17p13.3(chr17:1145504-1445005)x3	TRARG1, YWHAE +5 more	Copy number gain	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253349	GRCh37/hg19 17p13.3(chr17:961016-1641881)x3	ABR, BHLHA9 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 3359632	NM_016532.4(INPP5K):c.301T>G (p.Phe101Val)	INPP5K (F101V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance