5523[Gene ID] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 143

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 146737	GRCh38/hg38 3q22.2-22.3(chr3:134824436-136787321)x3	EPHB1, LOC112903838 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 523197	GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1	LOC129937632, LOC129937633 +11 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 149150	GRCh38/hg38 3q22.2-22.3(chr3:135930259-136445332)x3	LOC112903838, LOC123038190 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3217775	NM_002718.5(PPP2R3A):c.20T>C (p.Leu7Pro)	PPP2R3A (L7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039884	NM_002718.5(PPP2R3A):c.138G>T (p.Val46=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 2412254	NM_002718.5(PPP2R3A):c.163C>G (p.Leu55Val)	PPP2R3A (L55V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038062	NM_002718.5(PPP2R3A):c.199G>A (p.Asp67Asn)	PPP2R3A (D67N)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3055861	NM_002718.5(PPP2R3A):c.200A>G (p.Asp67Gly)	PPP2R3A (D67G)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 2294244	NM_002718.5(PPP2R3A):c.211A>G (p.Met71Val)	PPP2R3A (M71V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3034364	NM_002718.5(PPP2R3A):c.232G>A (p.Gly78Arg)	PPP2R3A (G78R)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 3038993	NM_002718.5(PPP2R3A):c.323A>G (p.Asn108Ser)	PPP2R3A (N108S)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 2309260	NM_002718.5(PPP2R3A):c.324C>A (p.Asn108Lys)	PPP2R3A (N108K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055572	NM_002718.5(PPP2R3A):c.333T>C (p.Asp111=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3059643	NM_002718.5(PPP2R3A):c.511G>T (p.Ala171Ser)	PPP2R3A (A171S)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3217783	NM_002718.5(PPP2R3A):c.517T>C (p.Ser173Pro)	PPP2R3A (S173P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459315	NM_002718.5(PPP2R3A):c.535A>C (p.Ser179Arg)	PPP2R3A (S179R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294038	NM_002718.5(PPP2R3A):c.544G>A (p.Val182Ile)	PPP2R3A (V182I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217784	NM_002718.5(PPP2R3A):c.548A>G (p.Glu183Gly)	PPP2R3A (E183G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040470	NM_002718.5(PPP2R3A):c.577C>G (p.Leu193Val)	PPP2R3A (L193V)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 2259120	NM_002718.5(PPP2R3A):c.583A>G (p.Thr195Ala)	PPP2R3A (T195A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209739	NM_002718.5(PPP2R3A):c.584C>T (p.Thr195Met)	PPP2R3A (T195M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217785	NM_002718.5(PPP2R3A):c.622G>A (p.Glu208Lys)	PPP2R3A (E208K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530139	NM_002718.5(PPP2R3A):c.691A>G (p.Met231Val)	PPP2R3A (M231V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038187	NM_002718.5(PPP2R3A):c.696C>T (p.Cys232=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3044322	NM_002718.5(PPP2R3A):c.745A>G (p.Ile249Val)	PPP2R3A (I249V)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 3217786	NM_002718.5(PPP2R3A):c.820T>A (p.Ser274Thr)	PPP2R3A (S274T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337214	NM_002718.5(PPP2R3A):c.829G>C (p.Val277Leu)	PPP2R3A (V277L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217787	NM_002718.5(PPP2R3A):c.850A>G (p.Arg284Gly)	PPP2R3A (R284G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217788	NM_002718.5(PPP2R3A):c.856G>A (p.Ala286Thr)	PPP2R3A (A286T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217790	NM_002718.5(PPP2R3A):c.868A>G (p.Lys290Glu)	PPP2R3A (K290E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466741	NM_002718.5(PPP2R3A):c.890T>A (p.Met297Lys)	PPP2R3A (M297K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309510	NM_002718.5(PPP2R3A):c.908A>G (p.Glu303Gly)	PPP2R3A (E303G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213476	NM_002718.5(PPP2R3A):c.939T>G (p.Asn313Lys)	PPP2R3A (N313K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385897	NM_002718.5(PPP2R3A):c.965T>C (p.Phe322Ser)	PPP2R3A (F322S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309507	NM_002718.5(PPP2R3A):c.1003G>A (p.Glu335Lys)	PPP2R3A (E335K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217769	NM_002718.5(PPP2R3A):c.1013T>A (p.Val338Asp)	PPP2R3A (V338D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315135	NM_002718.5(PPP2R3A):c.1040G>C (p.Arg347Pro)	PPP2R3A (R347P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309512	NM_002718.5(PPP2R3A):c.1101A>T (p.Gln367His)	PPP2R3A (Q367H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043111	NM_002718.5(PPP2R3A):c.1146A>C (p.Val382=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 2615903	NM_002718.5(PPP2R3A):c.1153C>A (p.Pro385Thr)	PPP2R3A (P385T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217770	NM_002718.5(PPP2R3A):c.1213A>C (p.Asn405His)	PPP2R3A (N405H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224415	NM_002718.5(PPP2R3A):c.1271A>G (p.Lys424Arg)	PPP2R3A (K424R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300986	NM_002718.5(PPP2R3A):c.1286A>G (p.Lys429Arg)	PPP2R3A (K429R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471644	NM_002718.5(PPP2R3A):c.1340A>G (p.His447Arg)	PPP2R3A (H447R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334948	NM_002718.5(PPP2R3A):c.1359A>T (p.Glu453Asp)	PPP2R3A (E453D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2511073	NM_002718.5(PPP2R3A):c.1399A>G (p.Asn467Asp)	PPP2R3A (N467D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056589	NM_002718.5(PPP2R3A):c.1441C>G (p.Pro481Ala)	PPP2R3A (P481A)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 2509273	NM_002718.5(PPP2R3A):c.1450G>A (p.Asp484Asn)	PPP2R3A (D484N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217771	NM_002718.5(PPP2R3A):c.1480G>A (p.Glu494Lys)	PPP2R3A (E494K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599994	NM_002718.5(PPP2R3A):c.1502C>T (p.Thr501Ile)	PPP2R3A (T501I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041594	NM_002718.5(PPP2R3A):c.1509C>T (p.Ser503=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 2547882	NM_002718.5(PPP2R3A):c.1510A>G (p.Ser504Gly)	PPP2R3A (S504G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596347	NM_002718.5(PPP2R3A):c.1563G>C (p.Gln521His)	PPP2R3A (Q521H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3344844	NM_002718.5(PPP2R3A):c.1615T>A (p.Phe539Ile)	PPP2R3A (F539I)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GUncertain significance
Select item 2365438	NM_002718.5(PPP2R3A):c.1617T>A (p.Phe539Leu)	PPP2R3A (F539L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311056	NM_002718.5(PPP2R3A):c.1630A>T (p.Ser544Cys)	PPP2R3A (S544C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044511	NM_002718.5(PPP2R3A):c.1641C>T (p.Thr547=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3045317	NM_002718.5(PPP2R3A):c.1642G>A (p.Gly548Ser)	PPP2R3A (G548S)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 3038587	NM_002718.5(PPP2R3A):c.1690A>G (p.Ile564Val)	PPP2R3A (I564V)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3045220	NM_002718.5(PPP2R3A):c.1785G>A (p.Leu595=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3041341	NM_002718.5(PPP2R3A):c.1845A>G (p.Leu615=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 3040965	NM_002718.5(PPP2R3A):c.1869A>G (p.Gln623=)	PPP2R3A	Single nucleotide variant (synonymous variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 3309509	NM_002718.5(PPP2R3A):c.1889C>A (p.Thr630Lys)	PPP2R3A (T630K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043598	NM_002718.5(PPP2R3A):c.1913C>T (p.Ser638Leu)	PPP2R3A (S638L)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3056776	NM_002718.5(PPP2R3A):c.1924A>G (p.Ser642Gly)	PPP2R3A (S642G)	Single nucleotide variant (missense variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3217772	NM_002718.5(PPP2R3A):c.1930G>A (p.Val644Ile)	PPP2R3A (V644I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217773	NM_002718.5(PPP2R3A):c.1933G>T (p.Gly645Cys)	PPP2R3A (G645C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249954	NM_002718.5(PPP2R3A):c.1973A>G (p.Gln658Arg)	PPP2R3A (Q658R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353005	NM_002718.5(PPP2R3A):c.2038C>T (p.Pro680Ser)	PPP2R3A (P680S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2378823	NM_002718.5(PPP2R3A):c.2066G>A (p.Arg689Gln)	PPP2R3A (R689Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3034154	NM_002718.5(PPP2R3A):c.2079G>A (p.Pro693=)	PPP2R3A	Single nucleotide variant (5 prime UTR variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3039241	NM_002718.5(PPP2R3A):c.2084C>T (p.Pro695Leu)	PPP2R3A (P695L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3217774	NM_002718.5(PPP2R3A):c.2087A>G (p.His696Arg)	PPP2R3A (H75R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3041344	NM_002718.5(PPP2R3A):c.2088T>C (p.His696=)	PPP2R3A	Single nucleotide variant (5 prime UTR variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3041093	NM_002718.5(PPP2R3A):c.2109G>A (p.Ala703=)	PPP2R3A	Single nucleotide variant (5 prime UTR variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 3042325	NM_002718.5(PPP2R3A):c.2132G>A (p.Arg711Gln)	PPP2R3A (R711Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	PPP2R3A-related disorder	GBenign
Select item 3217776	NM_002718.5(PPP2R3A):c.2155C>A (p.Pro719Thr)	PPP2R3A (P98T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3057956	NM_002718.5(PPP2R3A):c.2178A>G (p.Glu726=)	PPP2R3A	Single nucleotide variant (5 prime UTR variant +1 more)	PPP2R3A-related disorder	GLikely benign
Select item 2259623	NM_002718.5(PPP2R3A):c.2207T>C (p.Phe736Ser)	PPP2R3A (F115S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2210751	NM_002718.5(PPP2R3A):c.2213A>G (p.Asp738Gly)	PPP2R3A (D117G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055418	NM_002718.5(PPP2R3A):c.2233G>A (p.Asp745Asn)	PPP2R3A (D124N +2 more)	Single nucleotide variant (missense variant)	PPP2R3A-related disorder	GBenign
Select item 2550999	NM_002718.5(PPP2R3A):c.2305G>A (p.Ala769Thr)	PPP2R3A (A148T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600994	NM_002718.5(PPP2R3A):c.2426A>G (p.Asn809Ser)	PPP2R3A (N73S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246907	NM_002718.5(PPP2R3A):c.2468A>G (p.Gln823Arg)	PPP2R3A (Q823R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535361	NM_002718.5(PPP2R3A):c.2473G>A (p.Val825Met)	LOC126806820, PPP2R3A (V204M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032711	NM_002718.5(PPP2R3A):c.2482dup (p.Thr828fs)	LOC126806820, PPP2R3A (T207fs +2 more)	Duplication (frameshift variant)	PPP2R3A-related disorder	GUncertain significance
Select item 2384504	NM_002718.5(PPP2R3A):c.2510A>G (p.Asp837Gly)	LOC126806820, PPP2R3A (D216G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495053	NM_002718.5(PPP2R3A):c.2519A>C (p.Glu840Ala)	LOC126806820, PPP2R3A (E104A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2