24699[HGNC] - ClinVar

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Items: 76

	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 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 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 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
Select item 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LOC112695115, LOC126806305 +33 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2323901	NM_001099289.3(SH3RF3):c.658A>G (p.Ile220Val)	RANBP2, SH3RF3 (I220V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594487	NM_001099289.3(SH3RF3):c.671G>A (p.Arg224Gln)	RANBP2, SH3RF3 (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161425	NM_001099289.3(SH3RF3):c.709C>T (p.His237Tyr)	RANBP2, SH3RF3 (H237Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247394	NM_001099289.3(SH3RF3):c.736A>G (p.Ser246Gly)	RANBP2, SH3RF3 (S246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161426	NM_001099289.3(SH3RF3):c.902T>G (p.Met301Arg)	RANBP2, SH3RF3 (M301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161428	NM_001099289.3(SH3RF3):c.991C>G (p.Pro331Ala)	RANBP2, SH3RF3 (P331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161403	NM_001099289.3(SH3RF3):c.1010G>A (p.Cys337Tyr)	RANBP2, SH3RF3 (C337Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161404	NM_001099289.3(SH3RF3):c.1022T>A (p.Leu341Gln)	RANBP2, SH3RF3 (L341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267636	NM_001099289.3(SH3RF3):c.1039G>A (p.Ala347Thr)	RANBP2, SH3RF3 (A347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311201	NM_001099289.3(SH3RF3):c.1049G>T (p.Ser350Ile)	RANBP2, SH3RF3 (S350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161405	NM_001099289.3(SH3RF3):c.1094C>T (p.Ala365Val)	RANBP2, SH3RF3 (A365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253903	NM_001099289.3(SH3RF3):c.1106G>A (p.Arg369His)	RANBP2, SH3RF3 (R369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161407	NM_001099289.3(SH3RF3):c.1123A>G (p.Asn375Asp)	RANBP2, SH3RF3 (N375D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303614	NM_001099289.3(SH3RF3):c.1201A>G (p.Met401Val)	RANBP2, SH3RF3 (M401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349124	NM_001099289.3(SH3RF3):c.1250C>T (p.Ala417Val)	RANBP2, SH3RF3 (A417V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161409	NM_001099289.3(SH3RF3):c.1252G>T (p.Ala418Ser)	RANBP2, SH3RF3 (A418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510426	NM_001099289.3(SH3RF3):c.1285G>A (p.Ala429Thr)	RANBP2, SH3RF3 (A429T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161410	NM_001099289.3(SH3RF3):c.1354G>A (p.Val452Met)	RANBP2, SH3RF3 (V452M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539685	NM_001099289.3(SH3RF3):c.1365G>T (p.Glu455Asp)	RANBP2, SH3RF3 (E455D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277283	NM_001099289.3(SH3RF3):c.1531G>C (p.Val511Leu)	RANBP2, SH3RF3 (V511L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161411	NM_001099289.3(SH3RF3):c.1576G>A (p.Val526Met)	RANBP2, SH3RF3 (V526M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343015	NM_001099289.3(SH3RF3):c.1598C>T (p.Pro533Leu)	RANBP2, SH3RF3 (P533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161412	NM_001099289.3(SH3RF3):c.1604G>A (p.Arg535Gln)	RANBP2, SH3RF3 (R535Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343470	NM_001099289.3(SH3RF3):c.1618G>A (p.Gly540Arg)	RANBP2, SH3RF3 (G540R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161413	NM_001099289.3(SH3RF3):c.1747A>G (p.Thr583Ala)	RANBP2, SH3RF3 (T583A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393749	NM_001099289.3(SH3RF3):c.1760C>A (p.Pro587Gln)	RANBP2, SH3RF3 (P587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622072	NM_001099289.3(SH3RF3):c.1778G>A (p.Arg593Gln)	RANBP2, SH3RF3 (R593Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161414	NM_001099289.3(SH3RF3):c.1811G>A (p.Arg604Gln)	RANBP2, SH3RF3 (R604Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262969	NM_001099289.3(SH3RF3):c.1814G>A (p.Ser605Asn)	RANBP2, SH3RF3 (S605N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272222	NM_001099289.3(SH3RF3):c.1859G>A (p.Arg620Gln)	RANBP2, SH3RF3 (R620Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487677	NM_001099289.3(SH3RF3):c.1894A>G (p.Asn632Asp)	RANBP2, SH3RF3 (N632D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407866	NM_001099289.3(SH3RF3):c.1924C>A (p.Leu642Ile)	RANBP2, SH3RF3 (L642I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345073	NM_001099289.3(SH3RF3):c.1949C>T (p.Pro650Leu)	RANBP2, SH3RF3 (P650L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161415	NM_001099289.3(SH3RF3):c.1987C>T (p.Arg663Trp)	RANBP2, SH3RF3 (R663W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161416	NM_001099289.3(SH3RF3):c.2038G>A (p.Val680Ile)	RANBP2, SH3RF3 (V680I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370678	NM_001099289.3(SH3RF3):c.2130C>A (p.Asp710Glu)	RANBP2, SH3RF3 (D710E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299356	NM_001099289.3(SH3RF3):c.2239G>A (p.Asp747Asn)	RANBP2, SH3RF3 (D747N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161417	NM_001099289.3(SH3RF3):c.2246A>G (p.Gln749Arg)	RANBP2, SH3RF3 (Q749R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408864	NM_001099289.3(SH3RF3):c.2287G>A (p.Glu763Lys)	RANBP2, SH3RF3 (E763K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324187	NM_001099289.3(SH3RF3):c.2311G>A (p.Gly771Ser)	RANBP2, SH3RF3 (G771S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303218	NM_001099289.3(SH3RF3):c.2362A>T (p.Met788Leu)	RANBP2, SH3RF3 (M788L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318786	NM_001099289.3(SH3RF3):c.2378G>A (p.Arg793Lys)	RANBP2, SH3RF3 (R793K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608523	NM_001099289.3(SH3RF3):c.2402A>G (p.Asn801Ser)	RANBP2, SH3RF3 (N801S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 76