"Ambry Genetics"[submitter] AND "INPP5K"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2325740	NM_016532.4(INPP5K):c.1297C>T (p.Pro433Ser)	INPP5K (P357S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403289	NM_016532.4(INPP5K):c.1295C>T (p.Pro432Leu)	INPP5K (P356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227818	NM_016532.4(INPP5K):c.1229_1230del (p.Phe410fs)	INPP5K (F334fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2228388	NM_016532.4(INPP5K):c.1205A>G (p.Asn402Ser)	INPP5K (N402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219855	NM_016532.4(INPP5K):c.1112G>A (p.Arg371Gln)	INPP5K (R295Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231658	NM_016532.4(INPP5K):c.1076C>T (p.Pro359Leu)	INPP5K (P283L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236729	NM_016532.4(INPP5K):c.865C>G (p.Pro289Ala)	INPP5K (P289A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401745	NM_016532.4(INPP5K):c.850G>A (p.Asp284Asn)	INPP5K (D284N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229192	NM_016532.4(INPP5K):c.776+6G>T	INPP5K	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2311796	NM_016532.4(INPP5K):c.763G>A (p.Asp255Asn)	INPP5K (D179N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2620361	NM_016532.4(INPP5K):c.700C>T (p.Arg234Trp)	INPP5K (R234W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360889	NM_016532.4(INPP5K):c.692C>T (p.Pro231Leu)	INPP5K (P155L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272621	NM_016532.4(INPP5K):c.591C>G (p.Ile197Met)	INPP5K (I121M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227819	NM_016532.4(INPP5K):c.553G>T (p.Asp185Tyr)	INPP5K (D109Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231643	NM_016532.4(INPP5K):c.466A>G (p.Asn156Asp)	INPP5K (N156D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237405	NM_016532.4(INPP5K):c.343A>G (p.Thr115Ala)	INPP5K (T115A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236079	NM_016532.4(INPP5K):c.296T>C (p.Leu99Pro)	INPP5K (L23P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248908	NM_016532.4(INPP5K):c.142T>C (p.Tyr48His)	INPP5K (Y48H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206640	NM_016532.4(INPP5K):c.131A>G (p.Asn44Ser)	INPP5K (N44S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance