PARD6B[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3208630	NM_032521.3(PARD6B):c.164A>G (p.Asn55Ser)	PARD6B (N55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264086	NM_032521.3(PARD6B):c.166G>A (p.Val56Ile)	PARD6B (V56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548270	NM_032521.3(PARD6B):c.204C>G (p.Asp68Glu)	PARD6B (D68E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603193	NM_032521.3(PARD6B):c.285G>T (p.Lys95Asn)	PARD6B (K95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770002	NM_032521.3(PARD6B):c.323C>T (p.Thr108Met)	PARD6B (T108M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3208631	NM_032521.3(PARD6B):c.342T>G (p.Asn114Lys)	PARD6B (N114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208632	NM_032521.3(PARD6B):c.349A>G (p.Thr117Ala)	PARD6B (T117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599001	NM_032521.3(PARD6B):c.461C>T (p.Thr154Met)	PARD6B (T154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310931	NM_032521.3(PARD6B):c.583T>C (p.Ser195Pro)	PARD6B (S195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316705	NM_032521.3(PARD6B):c.665A>G (p.Glu222Gly)	PARD6B (E222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208633	NM_032521.3(PARD6B):c.718C>T (p.Arg240Cys)	PARD6B (R240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270867	NM_032521.3(PARD6B):c.732A>G (p.Ile244Met)	PARD6B (I244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208634	NM_032521.3(PARD6B):c.779G>A (p.Arg260Gln)	PARD6B (R260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377950	NM_032521.3(PARD6B):c.785C>G (p.Ser262Cys)	PARD6B (S262C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208636	NM_032521.3(PARD6B):c.800A>G (p.Gln267Arg)	PARD6B (Q267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208637	NM_032521.3(PARD6B):c.839T>C (p.Ile280Thr)	PARD6B (I280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403960	NM_032521.3(PARD6B):c.841G>A (p.Glu281Lys)	PARD6B (E281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208638	NM_032521.3(PARD6B):c.892A>G (p.Ile298Val)	PARD6B (I298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624358	NM_032521.3(PARD6B):c.928G>A (p.Ala310Thr)	PARD6B (A310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329916	NM_032521.3(PARD6B):c.982G>A (p.Glu328Lys)	PARD6B (E328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356399	NM_032521.3(PARD6B):c.1028C>T (p.Ala343Val)	PARD6B (A343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404744	NM_032521.3(PARD6B):c.1048A>G (p.Asn350Asp)	PARD6B (N350D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304331	NM_032521.3(PARD6B):c.1052C>T (p.Thr351Met)	PARD6B (T351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304330	NM_032521.3(PARD6B):c.1070C>T (p.Ala357Val)	PARD6B (A357V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218118	NM_032521.3(PARD6B):c.1097A>G (p.Asp366Gly)	PARD6B (D366G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1456498	NC_000020.10:g.(?_49354394)_(49626875_?)del	ADNP, BCAS4 +4 more	Deletion	not provided	GPathogenic
Select item 816129	GRCh37/hg19 20q13.13(chr20:49150754-49443848)x3	PTPN1, PARD6B +2 more	Copy number gain	not provided	GLikely benign
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +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 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39