ClinVar for MedGen (Select 574999) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236029	NM_000490.5(AVP):c.328T>A (p.Cys110Ser)	AVP (C110S)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GLikely pathogenic
Select item 3065457	NM_000490.5(AVP):c.290G>A (p.Arg97His)	AVP (R97H)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GLikely pathogenic
Select item 2439449	NM_000490.5(AVP):c.218T>C (p.Leu73Pro)	AVP (L73P)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GUncertain significance
Select item 1699275	NM_000490.5(AVP):c.347G>A (p.Cys116Tyr)	AVP (C116Y)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 1630379	NM_000490.5(AVP):c.127C>G (p.Pro43Ala)	AVP (P43A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 976038	NM_000490.5(AVP):c.229GAG[1] (p.Glu78del)	AVP (E78del)	Microsatellite (inframe_deletion)	Neurohypophyseal diabetes insipidus	GConflicting classifications of pathogenicity
Select item 739003	NM_000490.5(AVP):c.54C>T (p.Ser18=)	AVP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 724217	NM_000490.5(AVP):c.150C>A (p.Gly50=)	AVP	Single nucleotide variant (synonymous variant)	Neurohypophyseal diabetes insipidus +2 more	GBenign/Likely benign
Select item 713238	NM_000490.5(AVP):c.132C>T (p.Cys44=)	AVP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 383370	NM_000490.5(AVP):c.329G>A (p.Cys110Tyr)	AVP (C110Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 369949	NM_000490.5(AVP):c.131G>T (p.Cys44Phe)	AVP (C44F)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GLikely pathogenic
Select item 12222	NM_000490.5(AVP):c.64_66del (p.Phe22del)	AVP (F22del)	Deletion (inframe_deletion)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12221	NM_000490.5(AVP):c.61T>C (p.Tyr21His)	AVP (Y21H)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12220	NM_000490.5(AVP):c.346T>G (p.Cys116Gly)	AVP (C116G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12218	NM_000490.5(AVP):c.200T>C (p.Val67Ala)	AVP (V67A)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12217	NM_000490.5(AVP):c.275G>A (p.Cys92Tyr)	AVP (C92Y)	Single nucleotide variant (missense variant)	AVP-related condition	GLikely pathogenic
Select item 12216	NM_000490.5(AVP):c.260C>T (p.Ser87Phe)	AVP (S87F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12215	NM_000490.5(AVP):c.337G>T (p.Glu113Ter)	AVP (E113*)	Single nucleotide variant (nonsense)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12214	NM_000490.5(AVP):c.160G>C (p.Gly54Arg)	AVP (G54R)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12213	NM_000490.5(AVP):c.161G>T (p.Gly54Val)	AVP (G54V)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12212	NM_000490.5(AVP):c.56C>T (p.Ala19Val)	AVP (A19V)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12211	NM_000490.5(AVP):c.287G>T (p.Gly96Val)	AVP (G96V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12210	NM_000490.5(AVP):c.3del (p.Met1fs)	AVP (M1fs)	Deletion (frameshift variant +1 more)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12209	NM_000490.5(AVP):c.277G>T (p.Gly93Trp)	AVP (G93W)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12208	NM_000490.5(AVP):c.294C>A (p.Cys98Ter)	AVP (C98*)	Single nucleotide variant (nonsense)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12206	NM_000490.5(AVP):c.55G>A (p.Ala19Thr)	AVP (A19T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12205	NM_000490.5(AVP):c.143G>T (p.Gly48Val)	AVP (G48V)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic
Select item 12204	NM_000490.5(AVP):c.262G>A (p.Gly88Ser)	AVP (G88S)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GPathogenic

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Links from MedGen

Items: 28