PRL[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 716024	NM_000948.6(PRL):c.630C>T (p.Ile210=)	PRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218888	NM_000948.6(PRL):c.619T>G (p.Ser207Ala)	PRL (S207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218887	NM_000948.6(PRL):c.433G>A (p.Val145Ile)	PRL (V145I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310217	NM_000948.6(PRL):c.387A>C (p.Glu129Asp)	PRL (E129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722940	NM_000948.6(PRL):c.300C>T (p.Ala100=)	PRL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768067	NM_000948.6(PRL):c.282C>T (p.Pro94=)	PRL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623247	NM_000948.6(PRL):c.278C>T (p.Thr93Ile)	PRL (T93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310219	NM_000948.6(PRL):c.263C>T (p.Thr88Ile)	PRL (T88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405050	NM_000948.6(PRL):c.260A>G (p.His87Arg)	PRL (H87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218886	NM_000948.6(PRL):c.227G>T (p.Arg76Leu)	PRL (R76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218885	NM_000948.6(PRL):c.226C>T (p.Arg76Trp)	PRL (R76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344193	NM_000948.6(PRL):c.212G>A (p.Arg71Gln)	PRL (R71Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310218	NM_000948.6(PRL):c.170T>C (p.Ile57Thr)	PRL (I57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782471	NM_000948.6(PRL):c.78G>A (p.Val26=)	PRL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563166	GRCh37/hg19 6p22.3(chr6:22273943-22419656)x1	PRL	Copy number loss	not provided	GLikely benign
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic

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Items: 25