PRLR[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LOC126807356, LOC128772262 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	LOC129993646, LOC129993647 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	LOC129993773, LOC129993774 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 3052452	NM_001204316.1(PRLR):c.1086A>C (p.Gly362=)	PRLR	Single nucleotide variant (synonymous variant +2 more)	PRLR-related condition	GLikely benign
Select item 3218905	NM_000949.7(PRLR):c.1735G>A (p.Ala579Thr)	PRLR (A478T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 710961	NM_000949.7(PRLR):c.1704C>T (p.Asn568=)	PRLR	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2606089	NM_000949.7(PRLR):c.1654G>C (p.Val552Leu)	PRLR (V451L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218904	NM_000949.7(PRLR):c.1651G>A (p.Gly551Arg)	PRLR (G450R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2488384	NM_000949.7(PRLR):c.1651G>C (p.Gly551Arg)	PRLR (G551R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2508031	NM_000949.7(PRLR):c.1623G>C (p.Glu541Asp)	PRLR (E541D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256620	NM_000949.7(PRLR):c.1612G>A (p.Gly538Arg)	PRLR (G437R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 741379	NM_000949.7(PRLR):c.1596C>G (p.Gly532=)	PRLR (Q342E)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2307945	NM_000949.7(PRLR):c.1574C>A (p.Pro525Gln)	PRLR (P424Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526078	NM_000949.7(PRLR):c.1483C>T (p.Pro495Ser)	PRLR (P394S +1 more)	Single nucleotide variant (intron variant +1 more)	Familial hyperprolactinemia	GUncertain significance
Select item 3025965	NM_000949.7(PRLR):c.1454A>C (p.Glu485Ala)	PRLR (E384A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 781625	NM_000949.7(PRLR):c.1410G>A (p.Glu470=)	PRLR	Single nucleotide variant (synonymous variant +1 more)	PRLR-related condition +1 more	GBenign
Select item 2328128	NM_000949.7(PRLR):c.1336G>A (p.Ala446Thr)	PRLR (A345T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456234	NM_000949.7(PRLR):c.1295A>G (p.Asn432Ser)	PRLR (N331S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218903	NM_000949.7(PRLR):c.1199A>G (p.Glu400Gly)	PRLR (E299G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218902	NM_000949.7(PRLR):c.1196T>C (p.Met399Thr)	PRLR (M399T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044456	NM_000949.7(PRLR):c.1155T>C (p.Asn385=)	PRLR	Single nucleotide variant (synonymous variant +1 more)	PRLR-related condition	GLikely benign
Select item 2264566	NM_000949.7(PRLR):c.1003A>C (p.Ser335Arg)	PRLR (S234R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536079	NM_000949.7(PRLR):c.940T>C (p.Tyr314His)	PRLR (Y314H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341209	NM_000949.7(PRLR):c.884C>T (p.Ala295Val)	PRLR (A295V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 929748	NM_000949.7(PRLR):c.851T>G (p.Leu284Trp)	PRLR (L183W +1 more)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure	GLikely pathogenic
Select item 599316	NM_000949.7(PRLR):c.806C>T (p.Pro269Leu)	PRLR (P269L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial hyperprolactinemia	GPathogenic
Select item 2308511	NM_000949.7(PRLR):c.790G>A (p.Val264Met)	PRLR (V163M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2435252	NM_000949.7(PRLR):c.766G>A (p.Val256Met)	PRLR (V155M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2471537	NM_000949.7(PRLR):c.709G>A (p.Val237Met)	PRLR (V136M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 779333	NM_000949.7(PRLR):c.685+7G>A	PRLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 89027	NM_000949.7(PRLR):c.635A>G (p.His212Arg)	PRLR (H212R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hyperprolactinemia	GPathogenic
Select item 2481606	NM_000949.7(PRLR):c.608T>A (p.Leu203His)	PRLR (L102H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222687	NM_000949.7(PRLR):c.586C>G (p.Leu196Val)	PRLR (L95V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051819	NM_000949.7(PRLR):c.523G>A (p.Glu175Lys)	PRLR (E175K +1 more)	Single nucleotide variant (missense variant +1 more)	PRLR-related condition	GLikely benign
Select item 599315	NM_000949.7(PRLR):c.511C>T (p.Arg171Ter)	PRLR (R171* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hyperprolactinemia	GPathogenic
Select item 88996	NM_000949.7(PRLR):c.508A>C (p.Ile170Leu)	PRLR (I170L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PRLR-related condition	GBenign
Select item 2560006	NM_000949.7(PRLR):c.458C>T (p.Pro153Leu)	PRLR (P153L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801450	NM_000949.7(PRLR):c.374-1769_374-1768insATATATATATATATTATATATATATCTATATATTATAT	PRLR	Microsatellite (intron variant)	Schizophrenia	GUncertain significance
Select item 1801388	NM_000949.7(PRLR):c.373+637_373+688del	PRLR	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 2518878	NM_000949.7(PRLR):c.110G>A (p.Arg37His)	PRLR (R37H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1433583	NC_000005.9:g.(?_33944753)_(35089722_?)dup	AGXT2, AMACR +8 more	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814679	GRCh37/hg19 5p13.2(chr5:35095856-35301208)x3	PRLR	Copy number gain	not provided	GUncertain significance
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394547	GRCh37/hg19 5p13.2(chr5:34945903-35060803)x3	AGXT2, DNAJC21 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 66