ClinVar for Gene (Select 56952) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219974	NM_020200.7(PRTFDC1):c.671G>A (p.Arg224Gln)	PRTFDC1 (R224Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219973	NM_020200.7(PRTFDC1):c.668A>G (p.Tyr223Cys)	PRTFDC1 (Y223C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219972	NM_020200.7(PRTFDC1):c.515T>C (p.Val172Ala)	PRTFDC1 (V172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684600	GRCh37/hg19 10p12.2-12.1(chr10:24560328-25536166)x3	ARHGAP21, ENKUR +4 more	Copy number gain	not provided	GUncertain significance
Select item 2596309	NM_020200.7(PRTFDC1):c.190A>G (p.Ile64Val)	PRTFDC1 (I64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595549	NM_020200.7(PRTFDC1):c.373G>A (p.Gly125Arg)	PRTFDC1 (G125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2537651	NM_020200.7(PRTFDC1):c.574A>G (p.Asn192Asp)	PRTFDC1 (N192D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2409161	NM_020200.7(PRTFDC1):c.482A>G (p.Lys161Arg)	PRTFDC1 (K161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324684	NM_020200.7(PRTFDC1):c.418G>T (p.Val140Phe)	PRTFDC1 (V140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308142	NM_020200.7(PRTFDC1):c.433G>A (p.Gly145Arg)	PRTFDC1 (G145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300465	NM_020200.7(PRTFDC1):c.161A>G (p.Glu54Gly)	PRTFDC1 (E54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294375	NM_020200.7(PRTFDC1):c.576C>A (p.Asn192Lys)	PRTFDC1 (N192K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243050	NM_020200.7(PRTFDC1):c.146T>A (p.Ile49Asn)	PRTFDC1 (I49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 720433	NM_020200.7(PRTFDC1):c.357T>C (p.Gly119=)	PRTFDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685308	GRCh37/hg19 10p12.1(chr10:25133682-25277446)x1	ENKUR, PRTFDC1	Copy number loss	not provided	GUncertain significance
Select item 443842	GRCh37/hg19 10p12.1(chr10:24628319-26747630)x1	APBB1IP, ARHGAP21 +7 more	Copy number loss	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 144415	GRCh38/hg38 10p12.2-12.1(chr10:24111341-25350640)x1	ARHGAP21, ENKUR +35 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 28