PRPSAP1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2407972	NM_002766.3(PRPSAP1):c.1136G>A (p.Arg379Gln)	PRPSAP1 (R379Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370711	NM_002766.3(PRPSAP1):c.992T>C (p.Val331Ala)	PRPSAP1 (V228A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370710	NM_002766.3(PRPSAP1):c.991G>T (p.Val331Leu)	PRPSAP1 (V228L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478286	NM_002766.3(PRPSAP1):c.861T>G (p.Ile287Met)	PRPSAP1 (I184M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475127	NM_002766.3(PRPSAP1):c.724C>T (p.Arg242Cys)	PRPSAP1 (R139C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299897	NM_002766.3(PRPSAP1):c.701C>T (p.Thr234Met)	PRPSAP1 (T131M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287455	NM_002766.3(PRPSAP1):c.668G>A (p.Gly223Asp)	PRPSAP1 (G223D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551134	NM_002766.3(PRPSAP1):c.616T>C (p.Ser206Pro)	PRPSAP1 (S206P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296227	NM_002766.3(PRPSAP1):c.610G>C (p.Ala204Pro)	PRPSAP1 (A101P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509500	NM_002766.3(PRPSAP1):c.523T>C (p.Phe175Leu)	PRPSAP1 (F175L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545686	NM_002766.3(PRPSAP1):c.454G>A (p.Ala152Thr)	PRPSAP1 (A49T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558536	NM_002766.3(PRPSAP1):c.167C>A (p.Thr56Lys)	LOC130061724, PRPSAP1 (T56K)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2315881	NM_002766.3(PRPSAP1):c.80C>G (p.Pro27Arg)	LOC130061724, PRPSAP1 (P27R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2278627	NM_002766.3(PRPSAP1):c.70C>G (p.Pro24Ala)	LOC130061724, PRPSAP1 (P24A)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2350098	NM_002766.3(PRPSAP1):c.7A>G (p.Lys3Glu)	LOC130061724, PRPSAP1 (K3E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2684857	GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3	EXOC7, FOXJ1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, ALYREF +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687943	GRCh37/hg19 17q25.1(chr17:74286105-74413899)x3	PRPSAP1, QRICH2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 30