LOC101927178[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	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
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 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	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 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
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 870577	NC_000014.9:g.35077780_35087566del	FAM177A1, LOC101927178 +1 more	Deletion	FAM177A1-related disorder	GLikely pathogenic
Select item 2221327	NM_173607.5(FAM177A1):c.641A>G (p.Asn214Ser)	FAM177A1, LOC101927178 (N191S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2279688	NM_173607.5(FAM177A1):c.661A>C (p.Ser221Arg)	FAM177A1, LOC101927178 (S198R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2316950	NM_173607.5(FAM177A1):c.704C>T (p.Pro235Leu)	FAM177A1, LOC101927178 (P235L +1 more)	Single nucleotide variant (non-coding transcript 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 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 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 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 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 3039479	NM_017917.4(PPP2R3C):c.1174-10dup	LOC101927178, PPP2R3C	Duplication (intron variant)	PPP2R3C-related disorder	GBenign
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 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 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 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 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 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 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 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 3340142	NM_017917.4(PPP2R3C):c.841del (p.Gln281fs)	LOC101927178, PPP2R3C (Q171fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 36	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 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 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 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 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 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 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 154632	GRCh38/hg38 14q13.2(chr14:35109816-35151026)x1	LOC101927178, LOC126861916 +3 more	Copy number loss	See cases	GBenign
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 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 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

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Items: 46