ClinVar for MedGen (Select 57876) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2060682	NM_000486.6(AQP2):c.85G>A (p.Gly29Ser)	AQP2 (G29S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1700646	NM_000054.7(AVPR2):c.964C>A (p.Pro322Thr)	AVPR2 (P322T)	Single nucleotide variant (missense variant +2 more)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 1454564	NM_000486.6(AQP2):c.127C>T (p.Gln43Ter)	AQP2 (Q43*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 989549	NM_000486.6(AQP2):c.135C>T (p.Ala45=)	AQP2	Single nucleotide variant (synonymous variant)	Nephrogenic diabetes insipidus	GUncertain significance
Select item 988214	NM_000486.6(AQP2):c.375del (p.Thr126fs)	AQP2, AQP5-AS1 (T126fs)	Deletion (non-coding transcript variant +1 more)	Nephrogenic diabetes insipidus	GPathogenic
Select item 798912	NM_000486.6(AQP2):c.297C>T (p.Ala99=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798770	NM_000486.6(AQP2):c.162C>G (p.Thr54=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796960	NM_000486.6(AQP2):c.768G>C (p.Ser256=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 766662	NM_000486.6(AQP2):c.324G>A (p.Thr108=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763955	NM_000486.6(AQP2):c.447C>T (p.Thr149=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 763857	NM_000486.6(AQP2):c.607-3del	AQP2, AQP5-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 763310	NM_000486.6(AQP2):c.189C>T (p.Ser63=)	AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 737819	NM_000486.6(AQP2):c.471G>A (p.Pro157=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 733227	NM_000486.6(AQP2):c.141G>A (p.Ala47=)	AQP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 733151	NM_000486.6(AQP2):c.459C>T (p.Arg153=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 724199	NM_000486.6(AQP2):c.702G>A (p.Leu234=)	AQP5-AS1, AQP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 718766	NM_000486.6(AQP2):c.579C>T (p.Val193=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 713761	NM_000486.6(AQP2):c.204C>T (p.Asn68=)	AQP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 504917	NM_000486.6(AQP2):c.501T>C (p.Ser167=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 446861	NM_000486.6(AQP2):c.277C>T (p.Gln93Ter)	AQP2 (Q93*)	Single nucleotide variant (nonsense)	Diabetes insipidus, nephrogenic, autosomal +1 more	GPathogenic
Select item 441134	NM_000486.6(AQP2):c.450T>A (p.Asp150Glu)	AQP2, AQP5-AS1 (D150E)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal +1 more	GLikely pathogenic
Select item 309263	NM_000486.6(AQP2):c.*2290CT[1]	AQP2, AQP5-AS1	Microsatellite (3 prime UTR variant)	Nephrogenic diabetes insipidus	GBenign
Select item 309258	NM_000486.6(AQP2):c.*1730del	AQP2, AQP5-AS1	Deletion (3 prime UTR variant)	Nephrogenic diabetes insipidus	GUncertain significance
Select item 309232	NM_000486.6(AQP2):c.70G>A (p.Val24Ile)	AQP2 (V24I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285666	NM_000486.6(AQP2):c.763C>T (p.Gln255Ter)	AQP2, AQP5-AS1 (Q255*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 256244	NM_000486.6(AQP2):c.39G>A (p.Val13=)	AQP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 256243	NM_000486.6(AQP2):c.360+3G>A	AQP2	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +2 more	GBenign
Select item 256242	NM_000486.6(AQP2):c.345C>T (p.Asp115=)	AQP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 256241	NM_000486.6(AQP2):c.342G>A (p.Gly114=)	AQP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 177825	NM_000546.6(TP53):c.375G>A (p.Thr125=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +7 more	GPathogenic/Likely pathogenic
Select item 35749	NM_000054.7(AVPR2):c.963C>A (p.Asn321Lys)	AVPR2 (N321K)	Single nucleotide variant (missense variant +2 more)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35748	NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro)	AVPR2 (A285P)	Single nucleotide variant (missense variant +1 more)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35747	NM_000054.7(AVPR2):c.838dup (p.Tyr280fs)	AVPR2 (Y280fs)	Duplication (frameshift variant +1 more)	Nephrogenic diabetes insipidus	GPathogenic
Select item 35746	NM_000054.7(AVPR2):c.819_821del (p.Leu274del)	AVPR2 (L274del)	Deletion (inframe_deletion +1 more)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35745	NM_000054.7(AVPR2):c.770del (p.Gly257fs)	AVPR2 (G257fs)	Deletion (frameshift variant +1 more)	Nephrogenic diabetes insipidus +1 more	GLikely pathogenic
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 35743	NM_000054.7(AVPR2):c.673C>T (p.Gln225Ter)	AVPR2 (Q225*)	Single nucleotide variant (nonsense +1 more)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35742	NM_000054.7(AVPR2):c.554del (p.Gly185fs)	AVPR2 (G185fs)	Deletion (frameshift variant +1 more)	Nephrogenic diabetes insipidus +1 more	GPathogenic/Likely pathogenic
Select item 35741	NM_000054.7(AVPR2):c.472del (p.Arg158fs)	AVPR2 (R158fs)	Deletion (frameshift variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35740	NM_000054.7(AVPR2):c.424del (p.Cys142fs)	AVPR2 (C142fs)	Deletion (frameshift variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35739	NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)	AVPR2 (R137G)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35738	NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro)	AVPR2 (L97P)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35737	NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro)	AVPR2 (L59P)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35696	NM_000486.6(AQP2):c.785del (p.Pro262fs)	AQP2, AQP5-AS1 (P262fs)	Deletion (frameshift variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 35695	NM_000486.6(AQP2):c.560G>A (p.Arg187His)	AQP2, AQP5-AS1 (R187H)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus +1 more	GLikely pathogenic
Select item 35694	NM_000486.6(AQP2):c.438C>T (p.Phe146=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 35693	NM_000486.6(AQP2):c.223T>G (p.Cys75Gly)	AQP2 (C75G)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 17832	NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)	AQP2, AQP5-AS1 (A147T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 17830	NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)	AQP2 (G64R)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GPathogenic/Likely pathogenic
Select item 17828	NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)	AQP2, AQP5-AS1 (R187C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 10853	NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)	AVPR2 (R104C)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GLikely pathogenic
Select item 10849	NM_000054.7(AVPR2):c.410G>A (p.Arg137His)	AVPR2 (R137H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10838	NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)	AVPR2 (Y205C)	Single nucleotide variant (missense variant +1 more)	Nephrogenic diabetes insipidus	GPathogenic

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Items: 53