C1563705[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368070	NM_000054.7(AVPR2):c.-48G>C	AVPR2	Single nucleotide variant (5 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 254771	NM_000054.7(AVPR2):c.12G>A (p.Ala4=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +3 more	GBenign/Likely benign
Select item 368071	NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser)	AVPR2 (T7S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 254772	NM_000054.7(AVPR2):c.26-6T>G	AVPR2	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, X-linked +3 more	GBenign/Likely benign
Select item 254773	NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu)	AVPR2 (G12E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 730476	NM_000054.7(AVPR2):c.69C>T (p.Ser23=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912621	NM_000054.7(AVPR2):c.81G>T (p.Arg27Ser)	AVPR2 (R27S)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 733041	NM_000054.7(AVPR2):c.105G>A (p.Leu35=)	AVPR2	Single nucleotide variant (synonymous variant)	AVPR2-related condition +3 more	GBenign/Likely benign
Select item 735248	NM_000054.7(AVPR2):c.117G>A (p.Ala39=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GBenign/Likely benign
Select item 368072	NM_000054.7(AVPR2):c.125C>T (p.Ala42Val)	AVPR2 (A42V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 913722	NM_000054.7(AVPR2):c.126G>A (p.Ala42=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 368073	NM_000054.7(AVPR2):c.174G>A (p.Val58=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 913723	NM_000054.7(AVPR2):c.311G>A (p.Arg104His)	AVPR2 (R104H)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 913724	NM_000054.7(AVPR2):c.317G>A (p.Arg106His)	AVPR2 (R106H)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 913725	NM_000054.7(AVPR2):c.416G>A (p.Arg139His)	AVPR2 (R139H)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 914115	NM_000054.7(AVPR2):c.428G>A (p.Arg143His)	AVPR2 (R143H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 254774	NM_000054.7(AVPR2):c.440C>T (p.Ala147Val)	AVPR2 (A147V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 914116	NM_000054.7(AVPR2):c.485T>C (p.Val162Ala)	AVPR2 (V162A)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 763993	NM_000054.7(AVPR2):c.546C>T (p.Asn182=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 368075	NM_000054.7(AVPR2):c.643G>A (p.Val215Met)	AVPR2 (V215M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 914117	NM_000054.7(AVPR2):c.734G>C (p.Gly245Ala)	AVPR2 (G245A)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely benign
Select item 445707	NM_000054.7(AVPR2):c.740G>A (p.Arg247His)	AVPR2 (R247H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 914118	NM_000054.7(AVPR2):c.742C>T (p.Arg248Cys)	AVPR2 (R248C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368076	NM_000054.7(AVPR2):c.754C>T (p.Arg252Trp)	AVPR2 (R252W)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign/Likely benign
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 914620	NM_000054.7(AVPR2):c.837C>G (p.Val279=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 254775	NM_000054.7(AVPR2):c.927A>G (p.Leu309=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign
Select item 254776	NM_000054.7(AVPR2):c.993C>T (p.Ser331=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 710721	NM_000054.7(AVPR2):c.1017G>A (p.Leu339=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 368077	NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp)	AVPR2 (G352D)	Single nucleotide variant (missense variant +2 more)	Diabetes insipidus, nephrogenic, X-linked +3 more	GBenign/Likely benign
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
Select item 368079	NM_000054.7(AVPR2):c.*119G>A	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 368080	NM_000054.7(AVPR2):c.*129C>T	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 368081	NM_000054.7(AVPR2):c.*136T>G	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 912658	NM_000054.7(AVPR2):c.*190A>C	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 368082	NM_000054.7(AVPR2):c.*204C>T	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 368083	NM_000054.7(AVPR2):c.*257G>A	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 368084	NM_000054.7(AVPR2):c.*282G>A	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 913759	NM_000054.7(AVPR2):c.*320G>A	AVPR2	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 913760	NM_000054.7(AVPR2):c.*326A>C	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41