ClinVar for Gene (Select 5546) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309727	NM_005973.5(PRCC):c.154C>T (p.Pro52Ser)	PRCC (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309726	NM_005973.5(PRCC):c.701G>T (p.Gly234Val)	PRCC (G234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309725	NM_005973.5(PRCC):c.60G>T (p.Glu20Asp)	PRCC (E20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309724	NM_005973.5(PRCC):c.362A>G (p.Asn121Ser)	PRCC (N121S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3218308	NM_005973.5(PRCC):c.998C>G (p.Pro333Arg)	PRCC (P333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218307	NM_005973.5(PRCC):c.835C>T (p.Leu279Phe)	PRCC (L279F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218306	NM_005973.5(PRCC):c.675G>C (p.Lys225Asn)	PRCC (K225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218305	NM_005973.5(PRCC):c.623C>A (p.Pro208His)	PRCC (P208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218304	NM_005973.5(PRCC):c.61C>G (p.Pro21Ala)	PRCC (P21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218303	NM_005973.5(PRCC):c.457C>G (p.His153Asp)	PRCC (H153D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218302	NM_005973.5(PRCC):c.223C>A (p.Pro75Thr)	PRCC (P75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218301	NM_005973.5(PRCC):c.1400G>A (p.Arg467Gln)	PRCC (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218300	NM_005973.5(PRCC):c.1306A>G (p.Met436Val)	LOC120893163, PRCC (M436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2562911	NM_005973.5(PRCC):c.97C>T (p.Pro33Ser)	PRCC (P33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523524	NM_005973.5(PRCC):c.1259G>T (p.Ser420Ile)	LOC120893163, PRCC (S420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477303	NM_005973.5(PRCC):c.602C>G (p.Pro201Arg)	PRCC (P201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431443	NM_005973.5(PRCC):c.722C>T (p.Ser241Leu)	PRCC (S241L)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 2393823	NM_005973.5(PRCC):c.1022A>G (p.Asp341Gly)	PRCC (D341G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360242	NM_005973.5(PRCC):c.820G>A (p.Glu274Lys)	PRCC (E274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350096	NM_005973.5(PRCC):c.856C>G (p.Pro286Ala)	PRCC (P286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311718	NM_005973.5(PRCC):c.640G>C (p.Asp214His)	PRCC (D214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262112	NM_005973.5(PRCC):c.1135C>G (p.Pro379Ala)	PRCC (P379A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252759	NM_005973.5(PRCC):c.626C>T (p.Ser209Leu)	PRCC (S209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226726	NM_005973.5(PRCC):c.719C>T (p.Pro240Leu)	PRCC (P240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1341236	GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1	CRABP2, HDGF +9 more	Copy number loss	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 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
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 438783	NM_005973.5(PRCC):c.908C>T (p.Pro303Leu)	PRCC (P303L)	Single nucleotide variant (missense variant)	YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA	Gother
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43