PRR30[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 3219467	NM_178553.4(PRR30):c.1142C>A (p.Ala381Glu)	PRR30 (A381E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228152	NM_178553.4(PRR30):c.1133C>T (p.Pro378Leu)	PRR30 (P378L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204066	NM_178553.4(PRR30):c.1070C>T (p.Thr357Ile)	PRR30 (T357I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219466	NM_178553.4(PRR30):c.1058C>A (p.Thr353Lys)	PRR30 (T353K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370150	NM_178553.4(PRR30):c.1042G>A (p.Asp348Asn)	PRR30 (D348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410693	NM_178553.4(PRR30):c.1036C>T (p.Arg346Trp)	PRR30 (R346W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219465	NM_178553.4(PRR30):c.1018C>T (p.Pro340Ser)	PRR30 (P340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206609	NM_178553.4(PRR30):c.991T>G (p.Cys331Gly)	PRR30 (C331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457944	NM_178553.4(PRR30):c.982A>C (p.Thr328Pro)	PRR30 (T328P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310483	NM_178553.4(PRR30):c.943G>A (p.Glu315Lys)	PRR30 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235181	NM_178553.4(PRR30):c.901C>T (p.Arg301Cys)	PRR30 (R301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340191	NM_178553.4(PRR30):c.889G>A (p.Gly297Ser)	PRR30 (G297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219474	NM_178553.4(PRR30):c.878G>A (p.Arg293Gln)	PRR30 (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607851	NM_178553.4(PRR30):c.799A>G (p.Arg267Gly)	PRR30 (R267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219473	NM_178553.4(PRR30):c.793C>A (p.Leu265Ile)	PRR30 (L265I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367096	NM_178553.4(PRR30):c.769C>T (p.Arg257Trp)	PRR30 (R257W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216433	NM_178553.4(PRR30):c.707T>C (p.Leu236Pro)	PRR30 (L236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610670	NM_178553.4(PRR30):c.632T>C (p.Leu211Pro)	PRR30 (L211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219472	NM_178553.4(PRR30):c.595G>A (p.Glu199Lys)	PRR30 (E199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412558	NM_178553.4(PRR30):c.571G>A (p.Val191Met)	PRR30 (V191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519305	NM_178553.4(PRR30):c.455T>C (p.Leu152Pro)	PRR30 (L152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219469	NM_178553.4(PRR30):c.389C>T (p.Pro130Leu)	PRR30 (P130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212917	NM_178553.4(PRR30):c.358C>T (p.Pro120Ser)	PRR30 (P120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598704	NM_178553.4(PRR30):c.319C>T (p.Arg107Cys)	PRR30 (R107C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386500	NM_178553.4(PRR30):c.319C>A (p.Arg107Ser)	PRR30 (R107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604747	NM_178553.4(PRR30):c.313C>A (p.Leu105Ile)	PRR30 (L105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519310	NM_178553.4(PRR30):c.175C>T (p.Pro59Ser)	PRR30 (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294817	NM_178553.4(PRR30):c.172C>T (p.Arg58Cys)	PRR30 (R58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266021	NM_178553.4(PRR30):c.170G>A (p.Arg57His)	PRR30 (R57H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345738	NM_178553.4(PRR30):c.169C>T (p.Arg57Cys)	PRR30 (R57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320495	NM_178553.4(PRR30):c.155C>T (p.Ser52Phe)	PRR30 (S52F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355361	NM_178553.4(PRR30):c.118C>T (p.Pro40Ser)	PRR30 (P40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219470	NM_178553.4(PRR30):c.55C>T (p.Arg19Cys)	PRR30 (R19C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062593	GRCh37/hg19 2p23.3(chr2:27319597-27459379)x3	ABHD1, ATRAID +7 more	Copy number gain	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2426685	NC_000002.11:g.(?_27275827)_(27457573_?)dup	ABHD1, AGBL5 +10 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	COX7A2L, GEMIN6 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 687394	GRCh37/hg19 2p23.3(chr2:27311743-27362371)x1	ABHD1, CGREF1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 54