Related gene-specific medical variations for Gene (Select 653145) - ClinVar - NCBI

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

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340115	NM_001395253.1(NPY4R2):c.1047= (p.Ser349=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3340114	NM_001395253.1(NPY4R2):c.948= (p.Cys316=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3340113	NM_001395253.1(NPY4R2):c.897= (p.His299=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3340112	NM_001395253.1(NPY4R2):c.718C>T (p.Arg240Cys)	ANXA8, NPY4R2 (R240C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3340111	NM_001395253.1(NPY4R2):c.691= (p.Leu231=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3340110	NM_001395253.1(NPY4R2):c.295G>T (p.Ala99Ser)	ANXA8, NPY4R2 (A99S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3340109	NM_001395253.1(NPY4R2):c.234G>C (p.Leu78=)	ANXA8, NPY4R2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3340108	NM_001395253.1(NPY4R2):c.132= (p.Ile44=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 2672396	NM_001395253.1(NPY4R2):c.716G>A (p.Arg239Gln)	ANXA8, NPY4R2 (R239Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640436	NM_001190810.1(AGAP9):c.742A>G (p.Met248Val)	AGAP9, ANXA8 (M248V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2640433	NM_001395253.1(NPY4R2):c.715C>T (p.Arg239Trp)	ANXA8, NPY4R2 (R239W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640432	NM_001370184.1(SYT15B):c.734G>A (p.Gly245Asp)	ANXA8, LOC102724593 +1 more (G129D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2356628	NM_001190810.1(AGAP9):c.746G>T (p.Arg249Leu)	AGAP9, ANXA8 (R249L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance