ClinVar for Gene (Select 5549) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309862	NM_002725.4(PRELP):c.811A>G (p.Ile271Val)	PRELP (I271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3218532	NM_002725.4(PRELP):c.85G>A (p.Gly29Arg)	PRELP (G29R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218530	NM_002725.4(PRELP):c.856A>G (p.Asn286Asp)	PRELP (N286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218529	NM_002725.4(PRELP):c.612C>A (p.His204Gln)	PRELP (H204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218528	NM_002725.4(PRELP):c.503C>A (p.Ala168Asp)	PRELP (A168D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218527	NM_002725.4(PRELP):c.452G>A (p.Gly151Asp)	PRELP (G151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218526	NM_002725.4(PRELP):c.274C>T (p.Arg92Cys)	PRELP (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2639817	NM_002725.4(PRELP):c.684G>A (p.Leu228=)	PRELP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614636	NM_002725.4(PRELP):c.43G>A (p.Ala15Thr)	PRELP (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602435	NM_002725.4(PRELP):c.990G>C (p.Gln330His)	PRELP (Q330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558535	NM_002725.4(PRELP):c.221C>T (p.Pro74Leu)	PRELP (P74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543174	NM_002725.4(PRELP):c.242C>G (p.Pro81Arg)	PRELP (P81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526249	NM_002725.4(PRELP):c.308G>T (p.Arg103Leu)	PRELP (R103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471591	NM_002725.4(PRELP):c.715A>G (p.Arg239Gly)	PRELP (R239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2404745	NM_002725.4(PRELP):c.109A>G (p.Arg37Gly)	PRELP (R37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374871	NM_002725.4(PRELP):c.1097T>C (p.Ile366Thr)	PRELP (I366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359206	NM_002725.4(PRELP):c.588C>A (p.Asn196Lys)	PRELP (N196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333816	NM_002725.4(PRELP):c.631G>A (p.Val211Ile)	PRELP (V211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270407	NM_002725.4(PRELP):c.34C>T (p.Leu12Phe)	PRELP (L12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251795	NM_002725.4(PRELP):c.127A>C (p.Thr43Pro)	PRELP (T43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240519	NM_002725.4(PRELP):c.512G>A (p.Arg171Gln)	PRELP (R171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226637	NM_002725.4(PRELP):c.814C>T (p.Arg272Trp)	PRELP (R272W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219324	NM_002725.4(PRELP):c.105A>C (p.Arg35Ser)	PRELP (R35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1340953	GRCh37/hg19 1q32.1(chr1:203378879-203602144)x3	ATP2B4, OPTC +1 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 784966	NM_002725.4(PRELP):c.711G>A (p.Pro237=)	PRELP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709588	NM_002725.4(PRELP):c.978C>A (p.Ile326=)	PRELP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 584444	NM_002725.4(PRELP):c.778G>A (p.Gly260Arg)	PRELP (G260R)	Single nucleotide variant (missense variant)	PRELP-related osteosclerosis	GUncertain significance
Select item 565214	GRCh37/hg19 1q32.1(chr1:203407622-203459196)x1	PRELP	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43