PBLD[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 152357	GRCh38/hg38 10q21.3(chr10:68187812-68333410)x3	ATOH7, HNRNPH3 +20 more	Copy number gain	See cases	GUncertain significance
Select item 2617018	NM_022129.4(PBLD):c.827G>C (p.Gly276Ala)	PBLD (G276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456209	NM_022129.4(PBLD):c.808G>A (p.Gly270Arg)	PBLD (G270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209019	NM_022129.4(PBLD):c.745G>C (p.Glu249Gln)	PBLD (E249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530293	NM_022129.4(PBLD):c.725C>T (p.Ser242Phe)	PBLD (S242F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243877	NM_022129.4(PBLD):c.623C>T (p.Thr208Ile)	PBLD (T208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222392	NM_022129.4(PBLD):c.578T>G (p.Val193Gly)	PBLD (V193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374924	NM_022129.4(PBLD):c.542C>T (p.Thr181Met)	PBLD (T181M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461007	NM_022129.4(PBLD):c.490C>T (p.Arg164Cys)	PBLD (R164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209018	NM_022129.4(PBLD):c.470A>T (p.Asp157Val)	PBLD (D157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594781	NM_022129.4(PBLD):c.396C>A (p.Asp132Glu)	PBLD (D132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308163	NM_022129.4(PBLD):c.369G>C (p.Leu123Phe)	PBLD (L123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304501	NM_022129.4(PBLD):c.299C>T (p.Thr100Met)	PBLD (T100M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209017	NM_022129.4(PBLD):c.265G>C (p.Val89Leu)	PBLD (V89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304502	NM_022129.4(PBLD):c.100A>G (p.Met34Val)	PBLD (M34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530688	NM_022129.4(PBLD):c.70T>C (p.Cys24Arg)	PBLD (C24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532146	NM_022129.4(PBLD):c.50G>T (p.Arg17Leu)	PBLD (R17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621182	NM_022129.4(PBLD):c.19A>C (p.Ile7Leu)	PBLD (I7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1809501	GRCh37/hg19 10q21.3(chr10:69824933-70064085)x1	ATOH7, HERC4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808172	GRCh37/hg19 10q21.3(chr10:69824933-70070858)x1	ATOH7, HERC4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 815357	GRCh37/hg19 10q21.3(chr10:69066516-70079295)x3	MYPN, HERC4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 38