PREB[gene] - ClinVar

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Items: 42

	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 2256924	NM_013388.6(PREB):c.1232G>A (p.Ser411Asn)	PREB (S353N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218503	NM_013388.6(PREB):c.1157G>A (p.Arg386Gln)	PREB (R328Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549528	NM_013388.6(PREB):c.1066G>C (p.Gly356Arg)	PREB (G356R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541358	NM_013388.6(PREB):c.907G>C (p.Val303Leu)	PREB (V303L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214313	NM_013388.6(PREB):c.907G>A (p.Val303Ile)	PREB (V231I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2508363	NM_013388.6(PREB):c.823C>T (p.Arg275Cys)	PREB (R203C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385458	NM_013388.6(PREB):c.659C>T (p.Ser220Phe)	PREB (S148F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391167	NM_013388.6(PREB):c.643C>T (p.Arg215Trp)	PREB (R215W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218508	NM_013388.6(PREB):c.641G>T (p.Gly214Val)	PREB (G214V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242803	NM_013388.6(PREB):c.596T>C (p.Ile199Thr)	PREB (I127T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309859	NM_013388.6(PREB):c.581C>A (p.Ala194Asp)	PREB (A122D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470454	NM_013388.6(PREB):c.578A>G (p.Lys193Arg)	PREB (K193R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297207	NM_013388.6(PREB):c.512C>G (p.Thr171Ser)	PREB (T171S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397622	NM_013388.6(PREB):c.395C>G (p.Thr132Ser)	PREB (T60S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593260	NM_013388.6(PREB):c.287A>G (p.Gln96Arg)	PREB (Q24R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218507	NM_013388.6(PREB):c.250G>T (p.Ala84Ser)	PREB (A84S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309860	NM_013388.6(PREB):c.226G>A (p.Ala76Thr)	PREB (A4T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218506	NM_013388.6(PREB):c.206C>T (p.Thr69Ile)	PREB (T69I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2487271	NM_013388.6(PREB):c.188A>G (p.His63Arg)	PREB (H63R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218505	NM_013388.6(PREB):c.171G>C (p.Leu57Phe)	PREB (L57F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218504	NM_013388.6(PREB):c.122T>A (p.Ile41Lys)	PREB (I41K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
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	DNAJC27, DNAJC5G +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: 42