24097[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2374609	NM_022481.6(ARAP3):c.4558C>A (p.Leu1520Ile)	ARAP3 (L1520I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309749	NM_022481.6(ARAP3):c.4488A>T (p.Lys1496Asn)	ARAP3 (K1496N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309731	NM_022481.6(ARAP3):c.4474C>T (p.Leu1492Phe)	ARAP3 (L1492F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340587	NM_022481.6(ARAP3):c.4432C>T (p.Arg1478Trp)	ARAP3 (R1478W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223329	NM_022481.6(ARAP3):c.4424C>T (p.Pro1475Leu)	ARAP3 (P1475L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249379	NM_022481.6(ARAP3):c.4367T>A (p.Leu1456His)	ARAP3 (L1456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226935	NM_022481.6(ARAP3):c.4283C>T (p.Thr1428Ile)	ARAP3 (T1428I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309781	NM_022481.6(ARAP3):c.4163C>A (p.Ser1388Tyr)	ARAP3 (S1388Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128288	NM_022481.6(ARAP3):c.4153A>G (p.Met1385Val)	ARAP3 (M1385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408603	NM_022481.6(ARAP3):c.4126C>T (p.Arg1376Trp)	ARAP3 (R1376W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128287	NM_022481.6(ARAP3):c.4115G>A (p.Arg1372Gln)	ARAP3 (R1372Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128286	NM_022481.6(ARAP3):c.4073A>G (p.Asp1358Gly)	ARAP3 (D1358G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128285	NM_022481.6(ARAP3):c.4063C>T (p.Arg1355Cys)	ARAP3 (R1355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383089	NM_022481.6(ARAP3):c.3928G>A (p.Glu1310Lys)	ARAP3 (E1310K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128284	NM_022481.6(ARAP3):c.3826G>T (p.Ala1276Ser)	ARAP3 (A1276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385445	NM_022481.6(ARAP3):c.3824G>A (p.Gly1275Asp)	ARAP3 (G1275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 587541	NM_022481.6(ARAP3):c.3805C>T (p.Arg1269Trp)	ARAP3 (R1269W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3128282	NM_022481.6(ARAP3):c.3692G>A (p.Arg1231Gln)	ARAP3 (R1231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309701	NM_022481.6(ARAP3):c.3676C>T (p.Arg1226Trp)	ARAP3 (R1226W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128281	NM_022481.6(ARAP3):c.3665G>A (p.Arg1222His)	ARAP3 (R1222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252705	NM_022481.6(ARAP3):c.3636A>T (p.Gln1212His)	ARAP3 (Q1212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367065	NM_022481.6(ARAP3):c.3625C>A (p.Pro1209Thr)	ARAP3 (P1209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491900	NM_022481.6(ARAP3):c.3454C>A (p.Leu1152Met)	ARAP3, LOC126807531 (L1152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605288	NM_022481.6(ARAP3):c.3421A>G (p.Thr1141Ala)	ARAP3, LOC126807531 (T1141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128280	NM_022481.6(ARAP3):c.3395A>G (p.Asn1132Ser)	ARAP3, LOC126807531 (N1132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128279	NM_022481.6(ARAP3):c.3373A>G (p.Ile1125Val)	ARAP3, LOC126807531 (I1125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382486	NM_022481.6(ARAP3):c.3271G>A (p.Asp1091Asn)	ARAP3 (D1091N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309741	NM_022481.6(ARAP3):c.3242T>C (p.Ile1081Thr)	ARAP3 (I1081T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233005	NM_022481.6(ARAP3):c.3217G>A (p.Glu1073Lys)	ARAP3 (E1073K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210785	NM_022481.6(ARAP3):c.3211G>A (p.Glu1071Lys)	ARAP3 (E1071K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218211	NM_022481.6(ARAP3):c.3187G>A (p.Val1063Met)	ARAP3 (V1063M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371437	NM_022481.6(ARAP3):c.3134C>T (p.Ala1045Val)	ARAP3 (A1045V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128278	NM_022481.6(ARAP3):c.3086G>A (p.Arg1029His)	ARAP3 (R1029H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534275	NM_022481.6(ARAP3):c.3080A>G (p.Asn1027Ser)	ARAP3 (N1027S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128276	NM_022481.6(ARAP3):c.3060T>G (p.Ile1020Met)	ARAP3 (I1020M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128275	NM_022481.6(ARAP3):c.2996G>A (p.Arg999His)	ARAP3 (R999H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280309	NM_022481.6(ARAP3):c.2967C>G (p.Asp989Glu)	ARAP3 (D989E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232294	NM_022481.6(ARAP3):c.2953C>T (p.Arg985Cys)	ARAP3 (R985C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525848	NM_022481.6(ARAP3):c.2942A>G (p.Lys981Arg)	ARAP3 (K981R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225211	NM_022481.6(ARAP3):c.2875C>T (p.Arg959Trp)	ARAP3 (R959W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128274	NM_022481.6(ARAP3):c.2845C>T (p.Arg949Cys)	ARAP3 (R949C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161761	NM_022481.6(ARAP3):c.2806C>T (p.Arg936Trp)	ARAP3 (R936W)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2210950	NM_022481.6(ARAP3):c.2772T>A (p.Asp924Glu)	ARAP3 (D924E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128273	NM_022481.6(ARAP3):c.2716G>A (p.Gly906Ser)	ARAP3 (G906S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128272	NM_022481.6(ARAP3):c.2689G>A (p.Ala897Thr)	ARAP3 (A897T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598245	NM_022481.6(ARAP3):c.2686G>A (p.Ala896Thr)	ARAP3 (A896T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393557	NM_022481.6(ARAP3):c.2663G>A (p.Arg888Gln)	ARAP3 (R888Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485550	NM_022481.6(ARAP3):c.2633G>A (p.Gly878Glu)	ARAP3 (G878E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615980	NM_022481.6(ARAP3):c.2558G>A (p.Arg853Gln)	ARAP3 (R853Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128271	NM_022481.6(ARAP3):c.2555G>A (p.Arg852Gln)	ARAP3 (R852Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356316	NM_022481.6(ARAP3):c.2528C>G (p.Pro843Arg)	ARAP3 (P843R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368303	NM_022481.6(ARAP3):c.2524C>A (p.Pro842Thr)	ARAP3 (P842T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204261	NM_022481.6(ARAP3):c.2518C>T (p.Pro840Ser)	ARAP3 (P840S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518431	NM_022481.6(ARAP3):c.2483G>A (p.Arg828His)	ARAP3 (R828H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309681	NM_022481.6(ARAP3):c.2482C>T (p.Arg828Cys)	ARAP3 (R828C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128268	NM_022481.6(ARAP3):c.2476C>A (p.Leu826Ile)	ARAP3 (L826I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128267	NM_022481.6(ARAP3):c.2447C>A (p.Ala816Asp)	ARAP3 (A816D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600612	NM_022481.6(ARAP3):c.2402G>A (p.Arg801Gln)	ARAP3 (R801Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590288	NM_022481.6(ARAP3):c.2392G>A (p.Gly798Arg)	ARAP3 (G798R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128266	NM_022481.6(ARAP3):c.2328G>T (p.Glu776Asp)	ARAP3 (E776D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377264	NM_022481.6(ARAP3):c.2315C>T (p.Ala772Val)	ARAP3 (A772V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454263	NM_022481.6(ARAP3):c.2282G>C (p.Gly761Ala)	ARAP3 (G761A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128264	NM_022481.6(ARAP3):c.2278G>A (p.Ala760Thr)	ARAP3 (A760T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351643	NM_022481.6(ARAP3):c.2162A>T (p.Glu721Val)	ARAP3 (E721V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552073	NM_022481.6(ARAP3):c.2116C>T (p.Arg706Cys)	ARAP3 (R706C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399919	NM_022481.6(ARAP3):c.2101C>T (p.Arg701Trp)	ARAP3 (R701W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301772	NM_022481.6(ARAP3):c.2086C>G (p.Pro696Ala)	ARAP3 (P696A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128263	NM_022481.6(ARAP3):c.2027G>A (p.Arg676His)	ARAP3 (R676H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272147	NM_022481.6(ARAP3):c.1976G>T (p.Gly659Val)	ARAP3 (G659V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309752	NM_022481.6(ARAP3):c.1967G>A (p.Ser656Asn)	ARAP3 (S656N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407679	NM_022481.6(ARAP3):c.1930G>A (p.Gly644Ser)	ARAP3 (G644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128262	NM_022481.6(ARAP3):c.1927G>C (p.Glu643Gln)	ARAP3 (E643Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299081	NM_022481.6(ARAP3):c.1871T>C (p.Val624Ala)	ARAP3 (V624A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462329	NM_022481.6(ARAP3):c.1796G>A (p.Arg599His)	ARAP3 (R599H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601964	NM_022481.6(ARAP3):c.1795C>T (p.Arg599Cys)	ARAP3 (R599C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597206	NM_022481.6(ARAP3):c.1787G>A (p.Arg596Gln)	ARAP3 (R596Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383088	NM_022481.6(ARAP3):c.1717G>A (p.Gly573Arg)	ARAP3 (G573R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128261	NM_022481.6(ARAP3):c.1705C>T (p.Arg569Cys)	ARAP3 (R569C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549197	NM_022481.6(ARAP3):c.1696C>T (p.Arg566Cys)	ARAP3 (R566C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128259	NM_022481.6(ARAP3):c.1577A>G (p.Gln526Arg)	ARAP3 (Q526R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217046	NM_022481.6(ARAP3):c.1532G>A (p.Arg511His)	ARAP3 (R511H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309721	NM_022481.6(ARAP3):c.1529C>T (p.Ser510Phe)	ARAP3 (S510F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128258	NM_022481.6(ARAP3):c.1496G>A (p.Arg499Gln)	ARAP3 (R499Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371030	NM_022481.6(ARAP3):c.1333C>T (p.Arg445Trp)	ARAP3 (R445W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273222	NM_022481.6(ARAP3):c.1321G>A (p.Gly441Ser)	ARAP3 (G441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309771	NM_022481.6(ARAP3):c.1211G>A (p.Arg404His)	ARAP3 (R404H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204625	NM_022481.6(ARAP3):c.1169C>A (p.Pro390His)	ARAP3 (P390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383586	NM_022481.6(ARAP3):c.1157A>C (p.His386Pro)	ARAP3 (H386P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600550	NM_022481.6(ARAP3):c.1112G>A (p.Cys371Tyr)	ARAP3 (C371Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614588	NM_022481.6(ARAP3):c.1106T>A (p.Met369Lys)	ARAP3 (M369K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309712	NM_022481.6(ARAP3):c.1090G>A (p.Glu364Lys)	ARAP3 (E364K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128255	NM_022481.6(ARAP3):c.1076T>G (p.Phe359Cys)	ARAP3 (F359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128254	NM_022481.6(ARAP3):c.1022G>A (p.Arg341His)	ARAP3 (R341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352874	NM_022481.6(ARAP3):c.1009A>G (p.Ile337Val)	ARAP3 (I337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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