C1562113[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327036	NM_015040.4(PIKFYVE):c.1321-42C>T	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 333897	NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn)	PIKFYVE (S696N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 333898	NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 333905	NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser)	PIKFYVE (L932S)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333909	NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu)	PIKFYVE (Q995L)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333910	NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser)	PIKFYVE (T998S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 333917	NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys)	PIKFYVE (Q1183K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 333918	NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 333928	NM_015040.4(PIKFYVE):c.5028-8G>A	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 333930	NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333932	NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1327038	NM_015040.4(PIKFYVE):c.5435-47A>G	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 333934	NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign