ClinVar for Gene (Select 2834) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218900	NM_004248.3(PRLHR):c.973A>G (p.Met325Val)	PRLHR (M325V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218899	NM_004248.3(PRLHR):c.946G>T (p.Val316Leu)	PRLHR (V315L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218898	NM_004248.3(PRLHR):c.944T>A (p.Leu315Gln)	PRLHR (L314Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218897	NM_004248.3(PRLHR):c.763C>A (p.Arg255Ser)	PRLHR (R254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218896	NM_004248.3(PRLHR):c.718G>A (p.Val240Ile)	PRLHR (V240I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218893	NM_004248.3(PRLHR):c.5C>T (p.Ala2Val)	PRLHR (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218892	NM_004248.3(PRLHR):c.338G>A (p.Cys113Tyr)	PRLHR (C113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218891	NM_004248.3(PRLHR):c.152A>G (p.Gln51Arg)	PRLHR (Q51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2618800	NM_004248.3(PRLHR):c.740G>T (p.Arg247Leu)	PRLHR (R246L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603065	NM_004248.3(PRLHR):c.1075C>T (p.Pro359Ser)	PRLHR (P358S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2529948	NM_004248.3(PRLHR):c.698C>T (p.Thr233Ile)	PRLHR (T233I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529520	NM_004248.3(PRLHR):c.200A>G (p.Tyr67Cys)	PRLHR (Y67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518265	NM_004248.3(PRLHR):c.664C>A (p.Arg222Ser)	PRLHR (R222S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409612	NM_004248.3(PRLHR):c.736G>C (p.Val246Leu)	PRLHR (V245L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337395	NM_004248.3(PRLHR):c.484G>T (p.Val162Leu)	PRLHR (V162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317921	NM_004248.3(PRLHR):c.130G>T (p.Ala44Ser)	PRLHR (A44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293926	NM_004248.3(PRLHR):c.170A>G (p.His57Arg)	PRLHR (H57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276482	NM_004248.3(PRLHR):c.139G>C (p.Val47Leu)	PRLHR (V47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260822	NM_004248.3(PRLHR):c.706C>T (p.Leu236Phe)	PRLHR (L235F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250330	NM_004248.3(PRLHR):c.13A>T (p.Thr5Ser)	PRLHR (T5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246656	NM_004248.3(PRLHR):c.733T>A (p.Tyr245Asn)	PRLHR (Y245N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244824	NM_004248.3(PRLHR):c.40T>A (p.Leu14Ile)	PRLHR (L14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244052	NM_004248.3(PRLHR):c.370C>T (p.Pro124Ser)	PRLHR (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224007	NM_004248.3(PRLHR):c.1070T>G (p.Ile357Arg)	PRLHR (I357R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219987	NM_004248.3(PRLHR):c.586G>A (p.Val196Met)	PRLHR (V195M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219413	NM_004248.3(PRLHR):c.629T>C (p.Leu210Pro)	PRLHR (L209P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808935	GRCh37/hg19 10q26.11(chr10:120267084-120401081)x1	PRLHR	Copy number loss	not provided	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 768394	NM_004248.3(PRLHR):c.1036C>T (p.Leu346=)	PRLHR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563725	GRCh37/hg19 10q26.11(chr10:120104841-120361074)x3	PRLHR	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 147279	GRCh38/hg38 10q26.11(chr10:118330136-118685873)x3	CACUL1, FAM204A +4 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61