ClinVar for Gene (Select 26985) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127531	NM_012095.6(AP3M1):c.506G>A (p.Arg169Gln)	AP3M1 (R115Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2593912	NM_012095.6(AP3M1):c.821T>C (p.Val274Ala)	AP3M1 (V220A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2488497	NM_012095.6(AP3M1):c.727G>A (p.Glu243Lys)	AP3M1 (E189K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484201	NM_012095.6(AP3M1):c.989A>G (p.Tyr330Cys)	AP3M1 (Y276C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482783	NM_012095.6(AP3M1):c.722G>A (p.Arg241His)	AP3M1 (R241H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472551	NM_012095.6(AP3M1):c.1097A>G (p.Lys366Arg)	AP3M1 (K366R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455408	NM_012095.6(AP3M1):c.721C>T (p.Arg241Cys)	AP3M1 (R187C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425796	NC_000010.10:g.(?_75671314)_(79799964_?)dup	ADK, AP3M1 +15 more	Duplication	Genitopatellar syndrome	GUncertain significance
Select item 2400704	NM_012095.6(AP3M1):c.312T>G (p.Asp104Glu)	AP3M1 (D104E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374602	NM_012095.6(AP3M1):c.1123A>C (p.Ile375Leu)	AP3M1 (I321L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358937	NM_012095.6(AP3M1):c.182G>A (p.Arg61Gln)	AP3M1 (R61Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323331	NM_012095.6(AP3M1):c.1166T>C (p.Val389Ala)	AP3M1 (V389A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320056	NM_012095.6(AP3M1):c.814A>G (p.Ile272Val)	AP3M1 (I218V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319512	NM_012095.6(AP3M1):c.1085C>T (p.Ser362Phe)	AP3M1 (S308F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311498	NM_012095.6(AP3M1):c.502C>T (p.Arg168Cys)	AP3M1 (R114C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296401	NM_012095.6(AP3M1):c.856A>T (p.Ser286Cys)	AP3M1 (S232C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285476	NM_012095.6(AP3M1):c.865G>T (p.Gly289Cys)	AP3M1 (G289C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275303	NM_012095.6(AP3M1):c.235G>T (p.Val79Leu)	AP3M1 (V79L)	Single nucleotide variant (missense variant +1 more)	not specified	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 686430	GRCh37/hg19 10q22.2(chr10:75832145-75885881)x3	AP3M1, VCL	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 560071	Single allele	AP3M1, VCL	Duplication	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
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 442888	GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3	ADK, AGAP5 +15 more	Copy number gain	See cases	GUncertain significance
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 441722	GRCh37/hg19 10q22.2(chr10:75890021-76356834)x1	ADK, AP3M1	Copy number loss	See cases	GUncertain significance
Select item 395153	GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1	ADK, AP3M1 +16 more	Copy number loss	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
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 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 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	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

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Links from Gene

Items: 37