SH3RF3-AS1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 144754	GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1	CCDC138, EDAR +67 more	Copy number loss	See cases	GUncertain significance
Select item 153852	GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1	CCDC138, EDAR +56 more	Copy number loss	See cases	GUncertain significance
Select item 57544	GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1	CCDC138, EDAR +51 more	Copy number loss	See cases	GPathogenic
Select item 146441	GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1	CCDC138, EDAR +50 more	Copy number loss	See cases	GUncertain significance
Select item 153634	GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1	CCDC138, EDAR +44 more	Copy number loss	See cases	GUncertain significance
Select item 147380	GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3	CCDC138, EDAR +42 more	Copy number gain	See cases	GUncertain significance
Select item 148286	GRCh38/hg38 2q13(chr2:108719125-110611314)x3	CCDC138, EDAR +61 more	Copy number gain	See cases	GUncertain significance
Select item 2321705	NM_001099289.3(SH3RF3):c.70G>A (p.Glu24Lys)	RANBP2, SH3RF3 +1 more (E24K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2473816	NM_001099289.3(SH3RF3):c.92G>C (p.Arg31Pro)	RANBP2, SH3RF3 +1 more (R31P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161427	NM_001099289.3(SH3RF3):c.98G>A (p.Arg33His)	RANBP2, SH3RF3 +1 more (R33H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318138	NM_001099289.3(SH3RF3):c.101G>A (p.Arg34Gln)	RANBP2, SH3RF3 +1 more (R34Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161406	NM_001099289.3(SH3RF3):c.110C>T (p.Ala37Val)	RANBP2, SH3RF3 +1 more (A37V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2651260	NM_001099289.3(SH3RF3):c.174C>T (p.Ser58=)	RANBP2, SH3RF3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3161418	NM_001099289.3(SH3RF3):c.231C>G (p.Phe77Leu)	RANBP2, SH3RF3 +1 more (F77L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318137	NM_001099289.3(SH3RF3):c.259T>A (p.Cys87Ser)	RANBP2, SH3RF3 +1 more (C87S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161419	NM_001099289.3(SH3RF3):c.270C>G (p.His90Gln)	RANBP2, SH3RF3 +1 more (H90Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161420	NM_001099289.3(SH3RF3):c.389G>T (p.Ser130Ile)	RANBP2, SH3RF3 +1 more (S130I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2558545	NM_001099289.3(SH3RF3):c.407C>G (p.Pro136Arg)	RANBP2, SH3RF3 +1 more (P136R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318141	NM_001099289.3(SH3RF3):c.418A>G (p.Ile140Val)	RANBP2, SH3RF3 +1 more (I140V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2289465	NM_001099289.3(SH3RF3):c.434C>T (p.Ala145Val)	RANBP2, SH3RF3 +1 more (A145V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2250245	NM_001099289.3(SH3RF3):c.442A>C (p.Thr148Pro)	RANBP2, SH3RF3 +1 more (T148P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291133	NM_001099289.3(SH3RF3):c.448G>A (p.Ala150Thr)	RANBP2, SH3RF3 +1 more (A150T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305056	NM_001099289.3(SH3RF3):c.490C>A (p.Pro164Thr)	RANBP2, SH3RF3 +1 more (P164T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161421	NM_001099289.3(SH3RF3):c.503C>T (p.Ser168Phe)	RANBP2, SH3RF3 +1 more (S168F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2311430	NM_001099289.3(SH3RF3):c.523G>A (p.Ala175Thr)	RANBP2, SH3RF3 +1 more (A175T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2264789	NM_001099289.3(SH3RF3):c.530G>A (p.Ser177Asn)	RANBP2, SH3RF3 +1 more (S177N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2311431	NM_001099289.3(SH3RF3):c.533T>C (p.Leu178Pro)	RANBP2, SH3RF3 +1 more (L178P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161423	NM_001099289.3(SH3RF3):c.535C>T (p.Arg179Trp)	RANBP2, SH3RF3 +1 more (R179W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161424	NM_001099289.3(SH3RF3):c.544G>T (p.Ala182Ser)	RANBP2, SH3RF3 +1 more (A182S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 35