ClinVar for Gene (Select 551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic
Select item 3010989	NM_000490.5(AVP):c.174C>T (p.Cys58=)	AVP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006391	NM_000490.5(AVP):c.264C>T (p.Gly88=)	AVP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905309	NM_000490.5(AVP):c.403C>T (p.Leu135=)	AVP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896713	NM_000490.5(AVP):c.422C>T (p.Ala141Val)	AVP (A141V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892590	NM_000490.5(AVP):c.105C>G (p.Asp35Glu)	AVP (D35E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815344	NM_000490.5(AVP):c.457C>T (p.Pro153Ser)	AVP (P153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804341	NM_000490.5(AVP):c.275G>T (p.Cys92Phe)	AVP (C92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779413	NM_000490.5(AVP):c.379A>G (p.Ser127Gly)	AVP (S127G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776586	NM_000490.5(AVP):c.140G>A (p.Gly47Glu)	AVP (G47E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742268	NM_000490.5(AVP):c.337G>A (p.Glu113Lys)	AVP (E113K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736933	NM_000490.5(AVP):c.164C>T (p.Pro55Leu)	AVP (P55L)	Single nucleotide variant (missense variant)	AVP-related condition +1 more	GPathogenic
Select item 2705624	NM_000490.5(AVP):c.323-12T>G	AVP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2558973	NM_000490.5(AVP):c.353A>T (p.Glu118Val)	AVP (E118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554941	NM_000490.5(AVP):c.467T>G (p.Phe156Cys)	AVP (F156C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2443499	NM_000490.5(AVP):c.458C>T (p.Pro153Leu)	AVP (P153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2427137	NC_000020.10:g.(?_3063276)_(3218325_?)dup	AVP, DDRGK1 +5 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADISSP, AP5S1 +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2412143	NM_000490.5(AVP):c.202G>C (p.Gly68Arg)	AVP (G68R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391881	NM_000490.5(AVP):c.335C>T (p.Thr112Ile)	AVP (T112I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334447	NM_000490.5(AVP):c.353A>C (p.Glu118Ala)	AVP (E118A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302621	NM_000490.5(AVP):c.118C>G (p.Gln40Glu)	AVP (Q40E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251568	NM_000490.5(AVP):c.109G>C (p.Glu37Gln)	AVP (E37Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186055	NM_000490.5(AVP):c.322+4C>A	AVP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2179297	NM_000490.5(AVP):c.433C>A (p.Arg145=)	AVP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085650	NM_000490.5(AVP):c.365G>A (p.Arg122His)	AVP (R122H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2053044	NM_000490.5(AVP):c.475G>A (p.Ala159Thr)	AVP (A159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2047616	NM_000490.5(AVP):c.361C>T (p.His121Tyr)	AVP (H121Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2006066	NM_000490.5(AVP):c.321C>G (p.Asp107Glu)	AVP (D107E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992510	NM_000490.5(AVP):c.474C>T (p.Pro158=)	AVP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990217	NM_000490.5(AVP):c.33C>T (p.Leu11=)	AVP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975041	NM_000490.5(AVP):c.265C>G (p.Gln89Glu)	AVP (Q89E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929919	NM_000490.5(AVP):c.434G>C (p.Arg145Pro)	AVP (R145P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808226	GRCh37/hg19 20p13(chr20:2845451-3084597)x3	AVP, GNRH2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808216	GRCh37/hg19 20p13(chr20:2869357-3079408)x3	AVP, GNRH2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1700421	NM_000490.5(AVP):c.262G>T (p.Gly88Cys)	AVP (G88C)	Single nucleotide variant (missense variant)	not provided	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 +1 more	GBenign/Likely benign
Select item 1285212	NM_000490.5(AVP):c.260C>A (p.Ser87Tyr)	AVP (S87Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1270671	NM_000490.5(AVP):c.322+28_322+29dup	AVP	Duplication (intron variant)	not provided	GBenign
Select item 1244639	NM_000490.5(AVP):c.322+28dup	AVP	Duplication (intron variant)	not provided	GBenign
Select item 1237385	NM_000490.5(AVP):c.121-286T>C	AVP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230973	NC_000020.11:g.3084901A>G	AVP	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1182116	NM_000490.5(AVP):c.120+252G>A	AVP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181992	NC_000020.11:g.3082515T>C	AVP	Single nucleotide variant	not provided	GBenign
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
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 816107	GRCh37/hg19 20p13(chr20:2852007-3084597)x3	AVP, GNRH2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 754614	NM_000490.5(AVP):c.240C>T (p.Tyr80=)	AVP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746584	NM_000490.5(AVP):c.245C>T (p.Pro82Leu)	AVP (P82L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 746393	NM_000490.5(AVP):c.363C>T (p.His121=)	AVP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 725170	NM_000490.5(AVP):c.319G>A (p.Asp107Asn)	AVP (D107N)	Single nucleotide variant (missense variant)	AVP-related condition +1 more	GBenign
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 715748	NM_000490.5(AVP):c.230A>T (p.Glu77Val)	AVP (E77V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 686193	GRCh37/hg19 20p13(chr20:2851899-3110055)x3	AVP, GNRH2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 591527	NM_000490.5(AVP):c.92G>A (p.Arg31Lys)	AVP (R31K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 564614	GRCh37/hg19 20p13(chr20:3019956-3178446)x1	AVP, LZTS3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 562238	NM_000490.5(AVP):c.322+2T>G	AVP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADRA1D +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, AP5S1 +26 more	Copy number loss	See cases	GUncertain significance
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 424377	NM_000490.5(AVP):c.323A>T (p.Glu108Val)	AVP (E108V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 253695	GRCh37/hg19 20p13(chr20:3026868-3657453)x3	DDRGK1, OXT +11 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065331, LOC130065332 +300 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC130065300, LOC130065301 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	ADAM33, ADISSP +347 more	Copy number gain	See cases	GPathogenic
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	ADAM33, ADISSP +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	MCM8, MCM8-AS1 +455 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC130065416, LOC130065417 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
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

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