ClinVar for Gene (Select 101927249) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305684	NM_015009.3(PDZRN3):c.377T>G (p.Val126Gly)	PDZRN3, PDZRN3-AS1 (V126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305682	NM_015009.3(PDZRN3):c.343G>A (p.Ala115Thr)	PDZRN3, PDZRN3-AS1 (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305676	NM_015009.3(PDZRN3):c.286C>G (p.Gln96Glu)	PDZRN3, PDZRN3-AS1 (Q96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305675	NM_015009.3(PDZRN3):c.352G>T (p.Gly118Cys)	PDZRN3, PDZRN3-AS1 (G118C)	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 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 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 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 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 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 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 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 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 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 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 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 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 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	LOC115995512, LOC121009679 +94 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 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 24