ClinVar for Gene (Select 5526) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351817	NM_006244.4(PPP2R5B):c.285C>G (p.Ala95=)	PPP2R5B	Single nucleotide variant (synonymous variant)	PPP2R5B-related disorder	GLikely benign
Select item 3351488	NM_006244.4(PPP2R5B):c.141C>A (p.Ser47=)	PPP2R5B	Single nucleotide variant (synonymous variant)	PPP2R5B-related disorder	GLikely benign
Select item 3309521	NM_006244.4(PPP2R5B):c.101G>C (p.Arg34Pro)	PPP2R5B (R34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309520	NM_006244.4(PPP2R5B):c.1369C>T (p.Arg457Cys)	PPP2R5B (R457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309519	NM_006244.4(PPP2R5B):c.1411C>T (p.Arg471Trp)	PPP2R5B (R471W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217801	NM_006244.4(PPP2R5B):c.990G>C (p.Gln330His)	PPP2R5B (Q330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217800	NM_006244.4(PPP2R5B):c.553G>A (p.Val185Met)	LOC126861234, PPP2R5B (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217799	NM_006244.4(PPP2R5B):c.373G>A (p.Val125Ile)	PPP2R5B (V125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217797	NM_006244.4(PPP2R5B):c.1490G>A (p.Ser497Asn)	PPP2R5B (S497N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217796	NM_006244.4(PPP2R5B):c.1454G>A (p.Arg485Gln)	PPP2R5B (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3022229	NM_006244.4(PPP2R5B):c.1117-20T>C	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019034	NM_006244.4(PPP2R5B):c.168G>A (p.Gln56=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990603	NM_006244.4(PPP2R5B):c.426G>A (p.Pro142=)	LOC126861234, PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975015	NM_006244.4(PPP2R5B):c.354G>A (p.Arg118=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853369	NM_006244.4(PPP2R5B):c.498+9G>A	LOC126861234, PPP2R5B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2832970	NM_006244.4(PPP2R5B):c.533G>T (p.Ser178Ile)	LOC126861234, PPP2R5B (S178I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802552	NM_006244.4(PPP2R5B):c.99C>A (p.Arg33=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797510	NM_006244.4(PPP2R5B):c.310C>T (p.Arg104Trp)	PPP2R5B (R104W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730434	NM_006244.4(PPP2R5B):c.222C>T (p.His74=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710717	NM_006244.4(PPP2R5B):c.661T>C (p.Tyr221His)	PPP2R5B, LOC126861234 (Y221H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684647	GRCh37/hg19 11q13.1(chr11:64557855-64741375)x3	ATG2A, CDC42BPG +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641943	NM_006244.4(PPP2R5B):c.722G>A (p.Arg241Gln)	LOC126861234, PPP2R5B (R241Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641942	NM_006244.4(PPP2R5B):c.438C>A (p.Asn146Lys)	LOC126861234, PPP2R5B (N146K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641941	NM_006244.4(PPP2R5B):c.225G>A (p.Glu75=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629781	NM_006244.4(PPP2R5B):c.1298G>A (p.Gly433Glu)	PPP2R5B (G433E)	Single nucleotide variant (missense variant)	PPP2R5B-related disorder	GUncertain significance
Select item 2629548	NM_006244.4(PPP2R5B):c.19C>T (p.Pro7Ser)	PPP2R5B (P7S)	Single nucleotide variant (missense variant)	PPP2R5B-related disorder	GUncertain significance
Select item 2595190	NM_006244.4(PPP2R5B):c.127C>T (p.Arg43Cys)	PPP2R5B (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549524	NM_006244.4(PPP2R5B):c.1478G>A (p.Ser493Asn)	PPP2R5B (S493N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491490	NM_006244.4(PPP2R5B):c.1084G>A (p.Val362Met)	PPP2R5B (V362M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467115	NM_006244.4(PPP2R5B):c.1453C>T (p.Arg485Trp)	PPP2R5B (R485W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2377094	NM_006244.4(PPP2R5B):c.847A>C (p.Ile283Leu)	PPP2R5B (I283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322362	NM_006244.4(PPP2R5B):c.269T>C (p.Phe90Ser)	PPP2R5B (F90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290364	NM_006244.4(PPP2R5B):c.323A>G (p.Asn108Ser)	PPP2R5B (N108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278325	NM_006244.4(PPP2R5B):c.168G>C (p.Gln56His)	PPP2R5B (Q56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256175	NM_006244.4(PPP2R5B):c.109C>T (p.Arg37Cys)	PPP2R5B (R37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2056818	NM_006244.4(PPP2R5B):c.723-12C>T	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055431	NM_006244.4(PPP2R5B):c.373G>C (p.Val125Leu)	PPP2R5B (V125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049882	NM_006244.4(PPP2R5B):c.1280C>G (p.Thr427Ser)	PPP2R5B (T427S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955089	NM_006244.4(PPP2R5B):c.424C>G (p.Pro142Ala)	PPP2R5B, LOC126861234 (P142A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954014	NM_006244.4(PPP2R5B):c.892-7C>T	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953840	NM_006244.4(PPP2R5B):c.277T>A (p.Cys93Ser)	PPP2R5B (C93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936749	NM_006244.4(PPP2R5B):c.1301A>G (p.Lys434Arg)	PPP2R5B (K434R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901900	NM_006244.4(PPP2R5B):c.946-13T>C	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899494	NM_006244.4(PPP2R5B):c.801G>A (p.Ala267=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1659492	NM_006244.4(PPP2R5B):c.200-20G>C	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648423	NM_006244.4(PPP2R5B):c.945+9C>T	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640633	NM_006244.4(PPP2R5B):c.1346+16_1346+18delinsCTC	PPP2R5B	Indel (intron variant)	not provided	GLikely benign
Select item 1634598	NM_006244.4(PPP2R5B):c.783-3C>T	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1612757	NM_006244.4(PPP2R5B):c.483G>A (p.Ser161=)	LOC126861234, PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1605295	NM_006244.4(PPP2R5B):c.1363C>A (p.Gln455Lys)	PPP2R5B (Q455K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1601580	NM_006244.4(PPP2R5B):c.723-16C>T	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600832	NM_006244.4(PPP2R5B):c.1473C>T (p.Ala491=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1589486	NM_006244.4(PPP2R5B):c.183G>A (p.Pro61=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1583001	NM_006244.4(PPP2R5B):c.1244+19C>T	PPP2R5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1561076	NM_006244.4(PPP2R5B):c.957G>A (p.Gly319=)	PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1553821	NM_006244.4(PPP2R5B):c.453T>C (p.Pro151=)	LOC126861234, PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1506152	NM_006244.4(PPP2R5B):c.118C>T (p.Arg40Trp)	PPP2R5B (R40W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1418234	NM_006244.4(PPP2R5B):c.815C>T (p.Thr272Met)	PPP2R5B (T272M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1410548	NM_006244.4(PPP2R5B):c.601C>G (p.Leu201Val)	LOC126861234, PPP2R5B (L201V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1381040	NM_006244.4(PPP2R5B):c.521G>A (p.Arg174His)	LOC126861234, PPP2R5B (R174H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370992	NM_006244.4(PPP2R5B):c.1463C>G (p.Pro488Arg)	PPP2R5B (P488R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353736	NM_006244.4(PPP2R5B):c.1461_1463del (p.Pro488del)	PPP2R5B (P488del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1351301	NM_006244.4(PPP2R5B):c.32C>T (p.Pro11Leu)	PPP2R5B (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 217453	NM_006244.4(PPP2R5B):c.482C>T (p.Ser161Leu)	LOC126861234, PPP2R5B (S161L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 76