ClinVar for Gene (Select 5985) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190814	NM_018639.5(WSB2):c.853G>A (p.Ala285Thr)	RFC5, WSB2 (A285T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190810	NM_018639.5(WSB2):c.1205G>A (p.Arg402Lys)	RFC5, WSB2 (R192K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153370	NM_007370.7(RFC5):c.952G>A (p.Glu318Lys)	RFC5 (E315K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153369	NM_007370.7(RFC5):c.604A>G (p.Met202Val)	RFC5 (M181V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153368	NM_007370.7(RFC5):c.553C>T (p.Arg185Cys)	RFC5 (R185C +2 more)	Single nucleotide variant (missense variant +1 more)	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 2643379	NM_018639.5(WSB2):c.648T>C (p.Ala216=)	RFC5, WSB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643378	NM_018639.5(WSB2):c.747C>T (p.Pro249=)	RFC5, WSB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595362	NM_018639.5(WSB2):c.865A>G (p.Ser289Gly)	RFC5, WSB2 (S289G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559741	NM_018639.5(WSB2):c.871G>A (p.Val291Ile)	RFC5, WSB2 (V81I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549603	NM_007370.7(RFC5):c.517C>T (p.Arg173Trp)	RFC5 (R88W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544700	NM_007370.7(RFC5):c.679T>C (p.Phe227Leu)	RFC5 (F227L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528860	NM_007370.7(RFC5):c.157C>G (p.Leu53Val)	RFC5 (L32V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2526708	NM_018639.5(WSB2):c.1082C>G (p.Thr361Arg)	RFC5, WSB2 (T361R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511306	NM_007370.7(RFC5):c.518G>A (p.Arg173Gln)	RFC5 (R152Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476768	NM_007370.7(RFC5):c.718G>A (p.Gly240Arg)	RFC5 (G155R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401961	NM_007370.7(RFC5):c.26A>G (p.Gln9Arg)	RFC5 (Q9R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2317411	NM_007370.7(RFC5):c.137A>C (p.Lys46Thr)	RFC5 (K46T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2312778	NM_007370.7(RFC5):c.748A>G (p.Ile250Val)	RFC5 (I165V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279142	NM_007370.7(RFC5):c.645G>C (p.Arg215Ser)	RFC5 (R215S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226837	NM_018639.5(WSB2):c.659C>T (p.Ser220Leu)	RFC5, WSB2 (S220L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527740	GRCh37/hg19 12q24.22-24.23(chr12:118014801-118716129)	KSR2, PEBP1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 815561	GRCh37/hg19 12q24.22-24.23(chr12:117858408-118668114)x4	VSIG10, PEBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 783674	NM_018639.5(WSB2):c.738C>T (p.Asp246=)	RFC5, WSB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 563947	GRCh37/hg19 12q24.23(chr12:118258061-118726805)x3	RFC5, PEBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35