PDZRN3[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	LOC115995512, LOC121009679 +94 more	Copy number loss	See cases	GPathogenic
Select item 2620833	NM_015009.3(PDZRN3):c.2850C>G (p.Ile950Met)	PDZRN3 (I667M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211221	NM_015009.3(PDZRN3):c.2848A>G (p.Ile950Val)	PDZRN3 (I672V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211220	NM_015009.3(PDZRN3):c.2735C>A (p.Pro912His)	PDZRN3 (P912H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475416	NM_015009.3(PDZRN3):c.2735C>T (p.Pro912Leu)	PDZRN3 (P629L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224668	NM_015009.3(PDZRN3):c.2659A>G (p.Ile887Val)	PDZRN3 (I604V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211219	NM_015009.3(PDZRN3):c.2633A>G (p.Gln878Arg)	PDZRN3 (Q535R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540758	NM_015009.3(PDZRN3):c.2618T>C (p.Ile873Thr)	PDZRN3 (I571T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315471	NM_015009.3(PDZRN3):c.2571C>A (p.Ser857Arg)	PDZRN3 (S555R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281686	NM_015009.3(PDZRN3):c.2559G>C (p.Gln853His)	PDZRN3 (Q510H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521035	NM_015009.3(PDZRN3):c.2549C>A (p.Thr850Lys)	PDZRN3 (T572K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219716	NM_015009.3(PDZRN3):c.2543G>T (p.Ser848Ile)	PDZRN3 (S546I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352674	NM_015009.3(PDZRN3):c.2539C>T (p.Arg847Trp)	PDZRN3 (R564W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275485	NM_015009.3(PDZRN3):c.2538C>G (p.Ser846Arg)	PDZRN3 (S503R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211216	NM_015009.3(PDZRN3):c.2519G>T (p.Arg840Leu)	PDZRN3 (R562L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236746	NM_015009.3(PDZRN3):c.2512A>G (p.Lys838Glu)	PDZRN3 (K536E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653969	NM_015009.3(PDZRN3):c.2445C>T (p.Pro815=)	PDZRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227096	NM_015009.3(PDZRN3):c.2393C>T (p.Thr798Met)	PDZRN3 (T515M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245686	NM_015009.3(PDZRN3):c.2333C>A (p.Ser778Tyr)	PDZRN3 (S435Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245685	NM_015009.3(PDZRN3):c.2332T>A (p.Ser778Thr)	PDZRN3 (S500T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245684	NM_015009.3(PDZRN3):c.2329A>G (p.Asn777Asp)	PDZRN3 (N434D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211215	NM_015009.3(PDZRN3):c.2286G>C (p.Glu762Asp)	PDZRN3 (E460D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613551	NM_015009.3(PDZRN3):c.2189A>C (p.Asn730Thr)	PDZRN3 (N428T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307897	NM_015009.3(PDZRN3):c.2165A>C (p.His722Pro)	PDZRN3 (H439P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276271	NM_015009.3(PDZRN3):c.2161C>G (p.Leu721Val)	PDZRN3 (L378V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599577	NM_015009.3(PDZRN3):c.2101A>C (p.Ser701Arg)	PDZRN3 (S701R +4 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 3211214	NM_015009.3(PDZRN3):c.2078G>A (p.Arg693His)	PDZRN3 (R415H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205815	NM_015009.3(PDZRN3):c.2005G>A (p.Gly669Ser)	PDZRN3 (G326S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 779230	NM_015009.3(PDZRN3):c.1987G>A (p.Gly663Ser)	PDZRN3 (G361S +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2213370	NM_015009.3(PDZRN3):c.1939C>T (p.Arg647Cys)	PDZRN3 (R345C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211213	NM_015009.3(PDZRN3):c.1934G>A (p.Arg645His)	PDZRN3 (R302H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211212	NM_015009.3(PDZRN3):c.1922A>C (p.Asp641Ala)	PDZRN3 (D339A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569996	NM_015009.3(PDZRN3):c.1878T>G (p.Ile626Met)	PDZRN3 (I626M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558533	NM_015009.3(PDZRN3):c.1841G>A (p.Gly614Asp)	PDZRN3 (G336D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554849	NM_015009.3(PDZRN3):c.1831G>A (p.Asp611Asn)	PDZRN3 (D328N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292249	NM_015009.3(PDZRN3):c.1820C>A (p.Thr607Asn)	PDZRN3 (T324N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211211	NM_015009.3(PDZRN3):c.1787C>T (p.Ser596Phe)	PDZRN3 (S596F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211210	NM_015009.3(PDZRN3):c.1766A>G (p.Asn589Ser)	PDZRN3 (N311S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383082	NM_015009.3(PDZRN3):c.1708G>A (p.Gly570Ser)	PDZRN3 (G227S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325179	NM_015009.3(PDZRN3):c.1639A>C (p.Lys547Gln)	PDZRN3 (K204Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773703	NM_015009.3(PDZRN3):c.1636-10G>C	PDZRN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2323892	NM_015009.3(PDZRN3):c.1556T>C (p.Phe519Ser)	PDZRN3 (F217S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211209	NM_015009.3(PDZRN3):c.1534A>C (p.Met512Leu)	PDZRN3 (M210L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773445	NM_015009.3(PDZRN3):c.1452T>C (p.Ala484=)	PDZRN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2511072	NM_015009.3(PDZRN3):c.1442G>A (p.Arg481His)	PDZRN3 (R198H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776473	NM_015009.3(PDZRN3):c.1417-2dup	PDZRN3	Duplication (splice acceptor variant)	not provided	GBenign
Select item 599578	NM_015009.3(PDZRN3):c.1417-10T>C	PDZRN3	Single nucleotide variant (intron variant)	Short stature	GLikely pathogenic
Select item 2356326	NM_015009.3(PDZRN3):c.1321G>A (p.Asp441Asn)	PDZRN3 (D163N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480824	NM_015009.3(PDZRN3):c.1316C>G (p.Thr439Arg)	PDZRN3 (T439R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466478	NM_015009.3(PDZRN3):c.1219C>A (p.His407Asn)	PDZRN3 (H124N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406064	NM_015009.3(PDZRN3):c.1181A>G (p.His394Arg)	PDZRN3 (H111R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241861	NM_015009.3(PDZRN3):c.1138G>A (p.Val380Met)	PDZRN3 (V78M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255526	NM_015009.3(PDZRN3):c.1127C>G (p.Pro376Arg)	PDZRN3 (P376R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211208	NM_015009.3(PDZRN3):c.1081G>A (p.Asp361Asn)	PDZRN3 (D18N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312629	NM_015009.3(PDZRN3):c.1037C>T (p.Thr346Met)	PDZRN3 (T3M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211207	NM_015009.3(PDZRN3):c.1002G>T (p.Gln334His)	PDZRN3 (Q56H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727518	NM_015009.3(PDZRN3):c.1002G>A (p.Gln334=)	PDZRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2496270	NM_015009.3(PDZRN3):c.928A>G (p.Arg310Gly)	PDZRN3 (R27G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773446	NM_015009.3(PDZRN3):c.924C>T (p.Asn308=)	PDZRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2613999	NM_015009.3(PDZRN3):c.911T>G (p.Ile304Ser)	PDZRN3 (I304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208395	NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn)	PDZRN3 (D274N)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 2457357	NM_015009.3(PDZRN3):c.803C>T (p.Pro268Leu)	PDZRN3 (P268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653970	NM_015009.3(PDZRN3):c.786T>C (p.Asn262=)	PDZRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288529	NM_015009.3(PDZRN3):c.727G>A (p.Glu243Lys)	PDZRN3 (E243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211227	NM_015009.3(PDZRN3):c.713C>G (p.Pro238Arg)	PDZRN3, PDZRN3-AS1 (P238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211226	NM_015009.3(PDZRN3):c.700G>C (p.Val234Leu)	PDZRN3, PDZRN3-AS1 (V234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471528	NM_015009.3(PDZRN3):c.686C>G (p.Ser229Trp)	PDZRN3, PDZRN3-AS1 (S229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211224	NM_015009.3(PDZRN3):c.618G>C (p.Gln206His)	PDZRN3, PDZRN3-AS1 (Q206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211223	NM_015009.3(PDZRN3):c.544A>G (p.Lys182Glu)	PDZRN3, PDZRN3-AS1 (K182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598470	NM_015009.3(PDZRN3):c.446C>T (p.Pro149Leu)	PDZRN3, PDZRN3-AS1 (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341603	NM_015009.3(PDZRN3):c.433G>A (p.Gly145Ser)	PDZRN3, PDZRN3-AS1 (G145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475580	NM_015009.3(PDZRN3):c.407C>G (p.Ala136Gly)	PDZRN3, PDZRN3-AS1 (A136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306755	NM_015009.3(PDZRN3):c.398C>T (p.Ala133Val)	PDZRN3, PDZRN3-AS1 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211222	NM_015009.3(PDZRN3):c.392G>A (p.Arg131His)	PDZRN3, PDZRN3-AS1 (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248839	NM_015009.3(PDZRN3):c.182C>T (p.Ser61Leu)	PDZRN3, PDZRN3-AS1 (S61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211225	NM_015009.3(PDZRN3):c.65A>G (p.His22Arg)	PDZRN3, PDZRN3-AS1 (H22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299628	NM_015009.3(PDZRN3):c.31G>T (p.Asp11Tyr)	PDZRN3, PDZRN3-AS1 (D11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211218	NM_015009.3(PDZRN3):c.25G>A (p.Asp9Asn)	PDZRN3, PDZRN3-AS1 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211228	NM_015009.3(PDZRN3):c.7T>G (p.Phe3Val)	PDZRN3, PDZRN3-AS1 (F3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980499	GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3	CNTN3, EBLN2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687635	GRCh37/hg19 3p13(chr3:73232903-73451245)x3	PDZRN3	Copy number gain	not provided	GUncertain significance
Select item 687634	GRCh37/hg19 3p13-12.3(chr3:73507102-74272675)x3	PDZRN3	Copy number gain	not provided	GUncertain significance
Select item 687080	GRCh37/hg19 3p13(chr3:73472372-74095464)x3	PDZRN3	Copy number gain	not provided	GUncertain significance
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	RYBP, SHQ1 +13 more	Copy number loss	See cases	GPathogenic
Select item 394175	GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3	CNTN3, EBLN2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 202232	GRCh37/hg19 3p13(chr3:73524387-73613399)x1	PDZRN3	Copy number loss	See cases	GUncertain significance

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Items: 95