"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 804118	NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])	AVPR2	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
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 10853	NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)	AVPR2 (R104C)	Single nucleotide variant (missense variant)	Nephrogenic syndrome of inappropriate antidiuresis +2 more	GLikely pathogenic
Select item 1343585	NM_000054.7(AVPR2):c.377C>T (p.Ser126Phe)	AVPR2 (S126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 10849	NM_000054.7(AVPR2):c.410G>A (p.Arg137His)	AVPR2 (R137H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 35740	NM_000054.7(AVPR2):c.424del (p.Cys142fs)	AVPR2 (C142fs)	Deletion (frameshift variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 1804775	NM_000054.7(AVPR2):c.427C>T (p.Arg143Cys)	AVPR2 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 35741	NM_000054.7(AVPR2):c.472del (p.Arg158fs)	AVPR2 (R158fs)	Deletion (frameshift variant)	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 10838	NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)	AVPR2 (Y205C)	Single nucleotide variant (missense variant +1 more)	Nephrogenic diabetes insipidus	GPathogenic
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 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 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 441086	NM_000054.7(AVPR2):c.797T>C (p.Val266Ala)	AVPR2 (V266A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 35747	NM_000054.7(AVPR2):c.838dup (p.Tyr280fs)	AVPR2 (Y280fs)	Duplication (frameshift variant +1 more)	Nephrogenic diabetes insipidus	GPathogenic
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 1343590	NM_000054.7(AVPR2):c.913G>A (p.Ala305Thr)	AVPR2 (A305T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 2577303	NM_000054.7(AVPR2):c.1018C>T (p.Leu340Phe)	AVPR2 (L340F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1696254	NM_000054.7(AVPR2):c.1031G>A (p.Arg344Gln)	AVPR2 (R344Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2429223	NM_000054.7(AVPR2):c.1099A>T (p.Lys367Ter)	AVPR2 (K367*)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance

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Items: 24