"Ambry Genetics"[submitter] AND "IP6K1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2508420	NM_153273.4(IP6K1):c.1157G>A (p.Gly386Asp)	IP6K1 (G221D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250301	NM_153273.4(IP6K1):c.1154C>T (p.Ala385Val)	IP6K1 (A385V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286277	NM_153273.4(IP6K1):c.1106C>T (p.Ala369Val)	IP6K1 (A369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407512	NM_153273.4(IP6K1):c.1063G>C (p.Glu355Gln)	IP6K1 (E355Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206359	NM_153273.4(IP6K1):c.1057C>T (p.Arg353Trp)	IP6K1 (R188W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317972	NM_153273.4(IP6K1):c.934C>G (p.Leu312Val)	IP6K1 (L312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521044	NM_153273.4(IP6K1):c.877C>T (p.Leu293Phe)	IP6K1 (L293F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609400	NM_153273.4(IP6K1):c.737G>A (p.Arg246Gln)	IP6K1 (R246Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302142	NM_153273.4(IP6K1):c.410G>C (p.Ser137Thr)	IP6K1 (S137T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2323881	NM_153273.4(IP6K1):c.343C>T (p.Arg115Cys)	IP6K1 (R115C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2406928	NM_153273.4(IP6K1):c.328C>T (p.Arg110Trp)	IP6K1 (R110W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3110273	NM_153273.4(IP6K1):c.253A>G (p.Ser85Gly)	IP6K1 (S85G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3286278	NM_153273.4(IP6K1):c.229G>A (p.Val77Ile)	IP6K1 (V77I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance