ClinVar for Gene (Select 84612) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
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 3208637	NM_032521.3(PARD6B):c.839T>C (p.Ile280Thr)	PARD6B (I280T)	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 3208634	NM_032521.3(PARD6B):c.779G>A (p.Arg260Gln)	PARD6B (R260Q)	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 3208632	NM_032521.3(PARD6B):c.349A>G (p.Thr117Ala)	PARD6B (T117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3208630	NM_032521.3(PARD6B):c.164A>G (p.Asn55Ser)	PARD6B (N55S)	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 2603193	NM_032521.3(PARD6B):c.285G>T (p.Lys95Asn)	PARD6B (K95N)	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 2548270	NM_032521.3(PARD6B):c.204C>G (p.Asp68Glu)	PARD6B (D68E)	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 2403960	NM_032521.3(PARD6B):c.841G>A (p.Glu281Lys)	PARD6B (E281K)	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 2356399	NM_032521.3(PARD6B):c.1028C>T (p.Ala343Val)	PARD6B (A343V)	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 2316705	NM_032521.3(PARD6B):c.665A>G (p.Glu222Gly)	PARD6B (E222G)	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 2270867	NM_032521.3(PARD6B):c.732A>G (p.Ile244Met)	PARD6B (I244M)	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 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 770002	NM_032521.3(PARD6B):c.323C>T (p.Thr108Met)	PARD6B (T108M)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	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 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

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Links from Gene

Items: 39