ClinVar for Gene (Select 84900) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314946	NM_001382266.1(RNFT2):c.1310C>T (p.Thr437Met)	RNFT2 (T437M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314945	NM_001382266.1(RNFT2):c.211T>G (p.Ser71Ala)	RNFT2 (S71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155499	NM_001382266.1(RNFT2):c.965T>C (p.Met322Thr)	RNFT2 (M322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155498	NM_001382266.1(RNFT2):c.89G>A (p.Arg30His)	RNFT2 (R30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155497	NM_001382266.1(RNFT2):c.858G>C (p.Lys286Asn)	RNFT2 (K286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155496	NM_001382266.1(RNFT2):c.6G>T (p.Trp2Cys)	RNFT2 (W2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155495	NM_001382266.1(RNFT2):c.685C>G (p.Leu229Val)	RNFT2 (L229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155494	NM_001382266.1(RNFT2):c.361C>T (p.His121Tyr)	RNFT2 (H121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155493	NM_001382266.1(RNFT2):c.1211G>C (p.Cys404Ser)	RNFT2 (C404S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155492	NM_001382266.1(RNFT2):c.1168G>A (p.Glu390Lys)	RNFT2 (E390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155491	NM_001382266.1(RNFT2):c.113C>T (p.Ala38Val)	RNFT2 (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155490	NM_001382266.1(RNFT2):c.1120G>A (p.Gly374Arg)	RNFT2 (G374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155489	NM_001382266.1(RNFT2):c.1048G>A (p.Gly350Arg)	RNFT2 (G350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155488	NM_001382266.1(RNFT2):c.1034C>G (p.Ser345Cys)	RNFT2 (S345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 2532947	NM_001382266.1(RNFT2):c.244G>C (p.Ala82Pro)	RNFT2 (A82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515325	NM_001382266.1(RNFT2):c.98C>T (p.Ala33Val)	RNFT2 (A33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479839	NM_001382266.1(RNFT2):c.770T>C (p.Phe257Ser)	RNFT2 (F257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460163	NM_001382266.1(RNFT2):c.358G>A (p.Gly120Ser)	RNFT2 (G120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457931	NM_001382266.1(RNFT2):c.586G>A (p.Ala196Thr)	RNFT2 (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376488	NM_001382266.1(RNFT2):c.427G>A (p.Asp143Asn)	RNFT2 (D143N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374250	NM_001382266.1(RNFT2):c.1112G>A (p.Arg371Gln)	RNFT2 (R371Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327793	NM_001382266.1(RNFT2):c.1241G>A (p.Arg414His)	RNFT2 (R414H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322365	NM_001382266.1(RNFT2):c.1141G>A (p.Gly381Ser)	RNFT2 (G381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321547	NM_001382266.1(RNFT2):c.785T>C (p.Ile262Thr)	RNFT2 (I262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301808	NM_001382266.1(RNFT2):c.416A>T (p.Glu139Val)	RNFT2 (E139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293815	NM_001382266.1(RNFT2):c.1049G>A (p.Gly350Glu)	RNFT2 (G350E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267605	NM_001382266.1(RNFT2):c.526A>G (p.Lys176Glu)	RNFT2 (K176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808305	GRCh37/hg19 12q24.21-24.22(chr12:116422123-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527739	GRCh37/hg19 12q24.22(chr12:116869761-117330856)	HRK, MAP1LC3B2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 815560	GRCh37/hg19 12q24.22(chr12:117147027-117705774)x4	FBXO21, SPRING1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815556	GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)x3	MAP1LC3B2, TESC +7 more	Copy number gain	not provided	GUncertain significance
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 563968	GRCh37/hg19 12q24.22-24.23(chr12:117104335-118209153)x1	NOS1, TESC +6 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441656	GRCh37/hg19 12q24.21-24.22(chr12:116421601-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58231	GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3	FBXO21, FBXW8 +61 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 44