"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AVPR2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254771	NM_000054.7(AVPR2):c.12G>A (p.Ala4=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 733041	NM_000054.7(AVPR2):c.105G>A (p.Leu35=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GBenign/Likely benign
Select item 735248	NM_000054.7(AVPR2):c.117G>A (p.Ala39=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 368074	NM_000054.7(AVPR2):c.189T>C (p.Ala63=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 769186	NM_000054.7(AVPR2):c.252C>T (p.Ala84=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GLikely benign
Select item 10853	NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)	AVPR2 (R104C)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 429677	NM_000054.7(AVPR2):c.359T>C (p.Met120Thr)	AVPR2 (M120T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 585474	NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)	AVPR2 (Y128S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 724219	NM_000054.7(AVPR2):c.441G>A (p.Ala147=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GBenign/Likely benign
Select item 382301	NM_000054.7(AVPR2):c.445C>T (p.Arg149Cys)	AVPR2 (R149C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 741587	NM_000054.7(AVPR2):c.474G>A (p.Arg158=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 446891	NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg)	AVPR2 (L168R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1203715	NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys)	AVPR2 (R202C)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +2 more	GPathogenic/Likely pathogenic
Select item 727514	NM_000054.7(AVPR2):c.663C>T (p.Ile221=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +2 more	GLikely benign
Select item 35744	NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)	AVPR2 (R251fs)	Deletion (frameshift variant +1 more)	Nephrogenic syndrome of inappropriate antidiuresis +2 more	GLikely pathogenic
Select item 914619	NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser)	AVPR2 (G257S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 981523	NM_000054.7(AVPR2):c.1010G>A (p.Arg337Gln)	AVPR2 (R337Q)	Single nucleotide variant (missense variant +2 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GUncertain significance
Select item 368078	NM_000054.7(AVPR2):c.1113G>A (p.Ser371=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign