ClinVar for Gene (Select 55012) - ClinVar

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

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340142	NM_017917.4(PPP2R3C):c.841del (p.Gln281fs)	LOC101927178, PPP2R3C (Q171fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 36	GUncertain significance
Select item 3309514	NM_017917.4(PPP2R3C):c.1157C>T (p.Ser386Leu)	LOC101927178, PPP2R3C (S386L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217795	NM_017917.4(PPP2R3C):c.920C>T (p.Thr307Ile)	LOC101927178, PPP2R3C (T307I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217794	NM_017917.4(PPP2R3C):c.905G>C (p.Gly302Ala)	LOC101927178, PPP2R3C (G302A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217793	NM_017917.4(PPP2R3C):c.806G>C (p.Trp269Ser)	LOC101927178, PPP2R3C (W159S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217792	NM_017917.4(PPP2R3C):c.799A>G (p.Thr267Ala)	LOC101927178, PPP2R3C (T157A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217791	NM_017917.4(PPP2R3C):c.376G>A (p.Val126Ile)	LOC101927178, PPP2R3C (V16I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063339	GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3	BAZ1A, CFL2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3063313	GRCh37/hg19 14q13.2(chr14:35360640-35936592)x3	FAM177A1, NFKBIA +4 more	Copy number gain	not specified	GUncertain significance
Select item 3039479	NM_017917.4(PPP2R3C):c.1174-10dup	LOC101927178, PPP2R3C	Duplication (intron variant)	PPP2R3C-related disorder	GBenign
Select item 3037244	NM_017917.4(PPP2R3C):c.173G>A (p.Arg58Gln)	PPP2R3C (R58Q)	Single nucleotide variant (missense variant +1 more)	PPP2R3C-related disorder	GLikely benign
Select item 2685483	GRCh37/hg19 14q13.2(chr14:35561562-35723514)x1	PPP2R3C, PRORP	Copy number loss	not provided	GUncertain significance
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2664213	NM_017917.4(PPP2R3C):c.1310_1311dup (p.Ala438fs)	LOC101927178, PPP2R3C (A328fs +1 more)	Microsatellite (frameshift variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GUncertain significance
Select item 2627172	NM_017917.4(PPP2R3C):c.713_714del (p.Ile238fs)	PPP2R3C, LOC101927178 (I128fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2613049	NM_017917.4(PPP2R3C):c.38C>T (p.Thr13Met)	LOC126861916, PPP2R3C +2 more (T13M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2595836	NM_017917.4(PPP2R3C):c.1087G>A (p.Val363Ile)	LOC101927178, PPP2R3C (V253I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560943	NM_017917.4(PPP2R3C):c.1347C>A (p.Asp449Glu)	LOC101927178, PPP2R3C (D449E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558221	NM_017917.4(PPP2R3C):c.1238A>G (p.Asn413Ser)	LOC101927178, PPP2R3C (N413S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545099	NM_017917.4(PPP2R3C):c.320A>G (p.Gln107Arg)	LOC101927178, PPP2R3C (Q107R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2456147	NM_017917.4(PPP2R3C):c.678C>G (p.Phe226Leu)	LOC101927178, PPP2R3C (F116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424631	NC_000014.8:g.(?_35182071)_(35873850_?)del	BAZ1A, CFL2 +6 more	Deletion	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2411539	NM_017917.4(PPP2R3C):c.1132A>G (p.Lys378Glu)	LOC101927178, PPP2R3C (K268E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393167	NM_017917.4(PPP2R3C):c.121G>A (p.Glu41Lys)	PPP2R3C (E41K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329235	NM_017917.4(PPP2R3C):c.938G>A (p.Arg313His)	LOC101927178, PPP2R3C (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274805	NM_017917.4(PPP2R3C):c.1279T>A (p.Leu427Met)	LOC101927178, PPP2R3C (L427M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258248	NM_017917.4(PPP2R3C):c.119C>T (p.Ser40Phe)	PPP2R3C (S40F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239309	NM_017917.4(PPP2R3C):c.859A>G (p.Lys287Glu)	LOC101927178, PPP2R3C (K177E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236808	NM_017917.4(PPP2R3C):c.779T>C (p.Leu260Pro)	LOC101927178, PPP2R3C (L260P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214957	NM_017917.4(PPP2R3C):c.856G>A (p.Asp286Asn)	LOC101927178, PPP2R3C (D176N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	BAZ1A, BRMS1L +14 more	Copy number loss	not provided	GPathogenic
Select item 1703719	NM_017917.4(PPP2R3C):c.1250G>A (p.Gly417Glu)	LOC101927178, PPP2R3C (G417E +1 more)	Single nucleotide variant (missense variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 1703718	NM_017917.4(PPP2R3C):c.678CTT[2] (p.Phe229del)	LOC101927178, PPP2R3C (F229del +1 more)	Microsatellite (inframe_deletion +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 1703717	NM_017917.4(PPP2R3C):c.639_647dup (p.Tyr218_Val219insSerPheTyr)	LOC101927178, PPP2R3C	Duplication (inframe_insertion +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1327440	NM_017917.4(PPP2R3C):c.-9A>G	PRORP, LOC126861916 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 870577	NC_000014.9:g.35077780_35087566del	FAM177A1, LOC101927178 +1 more	Deletion	FAM177A1-related disorder	GLikely pathogenic
Select item 815638	GRCh37/hg19 14q13.2(chr14:35395019-35783469)x3	PPP2R3C, FAM177A1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 627425	NM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro)	LOC101927178, PPP2R3C (L103P)	Single nucleotide variant (5 prime UTR variant +2 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 627424	NM_017917.4(PPP2R3C):c.578T>C (p.Leu193Ser)	LOC101927178, PPP2R3C (L193S +1 more)	Single nucleotide variant (missense variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 627423	NM_017917.4(PPP2R3C):c.1049T>C (p.Phe350Ser)	LOC101927178, PPP2R3C (F350S +1 more)	Single nucleotide variant (missense variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 564117	GRCh37/hg19 14q13.1-13.2(chr14:35232984-35652742)x3	SRP54, BAZ1A +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154632	GRCh38/hg38 14q13.2(chr14:35109816-35151026)x1	LOC101927178, LOC126861916 +3 more	Copy number loss	See cases	GBenign
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 151240	GRCh38/hg38 14q13.2(chr14:35068276-35231604)x3	FAM177A1, LOC101927178 +5 more	Copy number gain	See cases	GLikely benign
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65