ClinVar for Gene (Select 84083) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260019	NM_032143.4(ZRANB3):c.2732T>G (p.Leu911Arg)	ZRANB3 (L457R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260018	NM_032143.4(ZRANB3):c.2893T>C (p.Cys965Arg)	ZRANB3 (C511R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260017	NM_032143.4(ZRANB3):c.529G>A (p.Val177Ile)	ZRANB3 (V177I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260016	NM_032143.4(ZRANB3):c.1837G>A (p.Ala613Thr)	ZRANB3 (A159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260015	NM_032143.4(ZRANB3):c.942G>A (p.Met314Ile)	ZRANB3 (M314I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260014	NM_032143.4(ZRANB3):c.1493C>A (p.Pro498Gln)	ZRANB3 (P44Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260013	NM_032143.4(ZRANB3):c.1816G>C (p.Glu606Gln)	ZRANB3 (E606Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260012	NM_032143.4(ZRANB3):c.1028T>G (p.Val343Gly)	ZRANB3 (V343G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260011	NM_032143.4(ZRANB3):c.2684C>T (p.Ser895Phe)	ZRANB3 (S441F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260010	NM_032143.4(ZRANB3):c.2699A>G (p.Tyr900Cys)	ZRANB3 (Y900C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260009	NM_032143.4(ZRANB3):c.344A>G (p.Asn115Ser)	ZRANB3 (N115S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199287	NM_032143.4(ZRANB3):c.716C>A (p.Ala239Glu)	ZRANB3 (A239E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199286	NM_032143.4(ZRANB3):c.547G>A (p.Ala183Thr)	ZRANB3 (A183T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199285	NM_032143.4(ZRANB3):c.388C>G (p.Leu130Val)	ZRANB3 (L130V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199284	NM_032143.4(ZRANB3):c.2741G>T (p.Arg914Leu)	ZRANB3 (R460L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199283	NM_032143.4(ZRANB3):c.259C>G (p.Pro87Ala)	ZRANB3 (P87A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199282	NM_032143.4(ZRANB3):c.250A>G (p.Ile84Val)	ZRANB3 (I84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199281	NM_032143.4(ZRANB3):c.249A>T (p.Leu83Phe)	ZRANB3 (L83F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199280	NM_032143.4(ZRANB3):c.2435G>A (p.Ser812Asn)	ZRANB3 (S810N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199279	NM_032143.4(ZRANB3):c.2345G>A (p.Arg782His)	ZRANB3 (R782H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199278	NM_032143.4(ZRANB3):c.2344C>T (p.Arg782Cys)	ZRANB3 (R328C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199277	NM_032143.4(ZRANB3):c.2273A>G (p.Asn758Ser)	ZRANB3 (N756S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199276	NM_032143.4(ZRANB3):c.2230C>T (p.Arg744Trp)	ZRANB3 (R290W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199275	NM_032143.4(ZRANB3):c.2077G>C (p.Glu693Gln)	ZRANB3 (E239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199274	NM_032143.4(ZRANB3):c.1970G>A (p.Ser657Asn)	ZRANB3 (S657N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199273	NM_032143.4(ZRANB3):c.1895A>G (p.Tyr632Cys)	ZRANB3 (Y178C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199272	NM_032143.4(ZRANB3):c.1707T>G (p.Ser569Arg)	ZRANB3 (S115R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199271	NM_032143.4(ZRANB3):c.1651G>A (p.Val551Ile)	ZRANB3 (V551I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199270	NM_032143.4(ZRANB3):c.1636C>T (p.Arg546Trp)	ZRANB3 (R92W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199269	NM_032143.4(ZRANB3):c.1543G>A (p.Glu515Lys)	ZRANB3 (E61K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199268	NM_032143.4(ZRANB3):c.1426A>G (p.Lys476Glu)	ZRANB3 (K22E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199267	NM_032143.4(ZRANB3):c.1289G>A (p.Arg430Gln)	ZRANB3 (R430Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199266	NM_032143.4(ZRANB3):c.1060T>C (p.Cys354Arg)	ZRANB3 (C354R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 2620897	NM_032143.4(ZRANB3):c.254T>C (p.Val85Ala)	ZRANB3 (V85A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610784	NM_032143.4(ZRANB3):c.2516T>A (p.Val839Asp)	ZRANB3 (V837D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595082	NM_032143.4(ZRANB3):c.2619A>C (p.Glu873Asp)	ZRANB3 (E873D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589066	NM_032143.4(ZRANB3):c.2311G>T (p.Asp771Tyr)	ZRANB3 (D769Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558249	NM_032143.4(ZRANB3):c.1171C>T (p.Arg391Cys)	ZRANB3 (R391C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556121	NM_032143.4(ZRANB3):c.413A>G (p.Asp138Gly)	ZRANB3 (D138G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552817	NM_032143.4(ZRANB3):c.2222A>G (p.Asn741Ser)	ZRANB3 (N741S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548581	NM_032143.4(ZRANB3):c.3178A>G (p.Arg1060Gly)	ZRANB3 (R1058G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533048	NM_032143.4(ZRANB3):c.568C>T (p.Pro190Ser)	ZRANB3 (P190S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521387	NM_032143.4(ZRANB3):c.505C>T (p.Arg169Cys)	ZRANB3 (R169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496289	NM_032143.4(ZRANB3):c.2750A>T (p.Gln917Leu)	ZRANB3 (Q917L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495643	NM_032143.4(ZRANB3):c.2693A>G (p.Lys898Arg)	ZRANB3 (K896R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491012	NM_032143.4(ZRANB3):c.3011T>C (p.Leu1004Pro)	ZRANB3 (L550P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490525	NM_032143.4(ZRANB3):c.1172G>A (p.Arg391His)	ZRANB3 (R391H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486524	NM_032143.4(ZRANB3):c.2054A>C (p.Glu685Ala)	ZRANB3 (E231A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479646	NM_032143.4(ZRANB3):c.1075A>G (p.Ile359Val)	ZRANB3 (I359V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476134	NM_032143.4(ZRANB3):c.2648C>T (p.Pro883Leu)	ZRANB3 (P429L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469940	NM_032143.4(ZRANB3):c.2783C>T (p.Ala928Val)	ZRANB3 (A474V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468840	NM_032143.4(ZRANB3):c.2924T>A (p.Leu975His)	ZRANB3 (L973H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456644	NM_032143.4(ZRANB3):c.1691T>G (p.Ile564Ser)	ZRANB3 (I110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424679	NC_000002.11:g.(?_135809878)_(136875630_?)del	CXCR4, DARS1 +7 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2395027	NM_032143.4(ZRANB3):c.1268A>G (p.His423Arg)	ZRANB3 (H423R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385769	NM_032143.4(ZRANB3):c.1337T>C (p.Ile446Thr)	ZRANB3 (I446T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371749	NM_032143.4(ZRANB3):c.1748C>T (p.Ser583Leu)	ZRANB3 (S583L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319713	NM_032143.4(ZRANB3):c.143C>T (p.Ala48Val)	ZRANB3 (A48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301297	NM_032143.4(ZRANB3):c.1892C>T (p.Thr631Ile)	ZRANB3 (T177I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284573	NM_032143.4(ZRANB3):c.2580G>C (p.Glu860Asp)	ZRANB3 (E406D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264250	NM_032143.4(ZRANB3):c.1880G>A (p.Cys627Tyr)	ZRANB3 (C173Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256100	NM_032143.4(ZRANB3):c.2144C>G (p.Ser715Cys)	ZRANB3 (S715C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234939	NM_032143.4(ZRANB3):c.289G>A (p.Glu97Lys)	ZRANB3 (E97K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231708	NM_032143.4(ZRANB3):c.2828A>G (p.Glu943Gly)	ZRANB3 (E489G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231286	NM_032143.4(ZRANB3):c.1682C>T (p.Ala561Val)	ZRANB3 (A107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214136	NM_032143.4(ZRANB3):c.2636C>T (p.Pro879Leu)	ZRANB3 (P879L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210797	NM_032143.4(ZRANB3):c.1451A>C (p.Lys484Thr)	ZRANB3 (K484T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809136	GRCh37/hg19 2q21.3(chr2:135923147-136113602)x1	RAB3GAP1, ZRANB3	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 980589	GRCh37/hg19 2q21.3(chr2:136037258-136225722)x1	ZRANB3	Copy number loss	not provided	GUncertain significance
Select item 980588	GRCh37/hg19 2q21.3(chr2:136091663-136155577)x1	ZRANB3	Copy number loss	not provided	GUncertain significance
Select item 814308	GRCh37/hg19 2q21.3(chr2:136071023-136243048)x1	ZRANB3	Copy number loss	not provided	GUncertain significance
Select item 783985	NM_032143.4(ZRANB3):c.1755C>T (p.Asp585=)	ZRANB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767827	NM_032143.4(ZRANB3):c.1813G>A (p.Val605Met)	ZRANB3 (V151M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767826	NM_032143.4(ZRANB3):c.3009+2T>C	ZRANB3	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 729112	NM_032143.4(ZRANB3):c.2280T>A (p.Ile760=)	ZRANB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688634	GRCh37/hg19 2q21.3-22.1(chr2:135712129-137818795)x3	CCNT2, CXCR4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687915	GRCh37/hg19 2q21.3(chr2:135924038-136105994)x3	RAB3GAP1, ZRANB3	Copy number gain	not provided	GUncertain significance
Select item 686222	GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1	ACMSD, CCNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 685798	GRCh37/hg19 2q21.3(chr2:136085311-136419768)x1	R3HDM1, ZRANB3	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441743	GRCh37/hg19 2q21.3(chr2:135887061-136251548)x1	ZRANB3, RAB3GAP1	Copy number loss	See cases	GUncertain significance
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 156804	NC_000002.12:g.135214523_135473889dup	ZRANB3, LOC129388922	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 154389	GRCh38/hg38 2q21.3(chr2:135163089-135479264)x1	LOC122819159, LOC129388922 +2 more	Copy number loss	See cases	GUncertain significance
Select item 152544	GRCh38/hg38 2q21.3(chr2:135479205-135518855)x1	ZRANB3	Copy number loss	See cases	GLikely benign
Select item 150644	GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3	CCNT2, LOC111562379 +14 more	Copy number gain	See cases	GUncertain significance
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 58903	GRCh38/hg38 2q21.3(chr2:135123956-135269848)x3	LOC122819159, RAB3GAP1 +2 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 96