ClinVar for Gene (Select 84978) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024593	GRCh37/hg19 15q15.3(chr15:43988438-44216507)x3	CKMT1A, ELL3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3024538	NM_032892.5(FRMD5):c.694C>G (p.Leu232Val)	FRMD5 (L143V +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with eye movement abnormalities and ataxia	GUncertain significance
Select item 2692442	NM_032892.5(FRMD5):c.510_516del (p.Leu171fs)	FRMD5 (L136fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2691681	NM_032892.5(FRMD5):c.793-18_793-9del	FRMD5	Deletion (intron variant)	not specified	GLikely benign
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2591753	NM_032892.5(FRMD5):c.1508G>A (p.Arg503His)	FRMD5 (R269H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2572521	NM_032892.5(FRMD5):c.1073G>A (p.Gly358Asp)	FRMD5 (G124D +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with eye movement abnormalities and ataxia	GUncertain significance
Select item 2550817	NM_032892.5(FRMD5):c.584T>G (p.Phe195Cys)	FRMD5 (F106C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2531302	NM_032892.5(FRMD5):c.1304T>C (p.Val435Ala)	FRMD5 (V400A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527508	NM_032892.5(FRMD5):c.483C>G (p.Phe161Leu)	FRMD5 (F72L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2513844	NM_032892.5(FRMD5):c.701G>A (p.Gly234Glu)	FRMD5 (G145E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2503839	NM_032892.5(FRMD5):c.178A>G (p.Ile60Val)	FRMD5 (I60V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2501687	NM_032892.5(FRMD5):c.1052G>A (p.Ser351Asn)	FRMD5 (S117N +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with eye movement abnormalities and ataxia	GLikely pathogenic
Select item 2491817	NM_032892.5(FRMD5):c.1687G>C (p.Val563Leu)	FRMD5 (V329L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486402	NM_032892.5(FRMD5):c.86A>G (p.Tyr29Cys)	FRMD5 (Y29C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2474315	NM_032892.5(FRMD5):c.1141G>C (p.Glu381Gln)	FRMD5 (E346Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2430113	NM_032892.5(FRMD5):c.285G>C (p.Lys95Asn)	FRMD5 (K60N +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with eye movement abnormalities and ataxia	GUncertain significance
Select item 2399016	NM_032892.5(FRMD5):c.1391C>T (p.Ala464Val)	FRMD5 (A230V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391921	NM_032892.5(FRMD5):c.1166C>T (p.Ser389Phe)	FRMD5 (S389F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390622	NM_032892.5(FRMD5):c.1080G>C (p.Arg360Ser)	FRMD5 (R266S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350487	NM_032892.5(FRMD5):c.1661G>A (p.Arg554Gln)	FRMD5 (R554Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2347968	NM_032892.5(FRMD5):c.1288G>A (p.Val430Met)	FRMD5 (V395M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315567	NM_032892.5(FRMD5):c.505G>A (p.Glu169Lys)	FRMD5 (E169K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280722	NM_032892.5(FRMD5):c.1613C>A (p.Thr538Asn)	FRMD5 (T304N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2270799	NM_032892.5(FRMD5):c.1379A>T (p.Lys460Met)	FRMD5 (K366M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250605	NM_032892.5(FRMD5):c.1294C>T (p.Pro432Ser)	FRMD5 (P198S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232947	NM_032892.5(FRMD5):c.1090G>A (p.Val364Ile)	FRMD5 (V270I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1807648	GRCh37/hg19 15q15.3(chr15:44178691-44301065)x1	FRMD5	Copy number loss	not provided	GUncertain significance
Select item 1800456	NC_000015.10:g.(?_43890333)_(43940887_?)del	FRMD5, STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1799546	NC_000015.10:g.(?_43890333)_(43893072_?)del	FRMD5, STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1799545	NC_000015.10:g.(?_43890333)_(43897714_?)del	FRMD5, STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1712504	NM_032892.5(FRMD5):c.1060T>C (p.Ser354Pro)	FRMD5 (S354P +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with eye movement abnormalities and ataxia	GPathogenic
Select item 1712501	NM_032892.5(FRMD5):c.1051A>G (p.Ser351Gly)	FRMD5 (S351G +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with eye movement abnormalities and ataxia	GPathogenic
Select item 1703014	NM_032892.5(FRMD5):c.1637A>G (p.Tyr546Cys)	FRMD5 (Y312C +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental delay	GUncertain significance
Select item 1703013	NM_032892.5(FRMD5):c.1045A>C (p.Ser349Arg)	FRMD5 (S115R +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with eye movement abnormalities and ataxia +1 more	GConflicting classifications of pathogenicity
Select item 1703012	NM_032892.5(FRMD5):c.1054T>C (p.Cys352Arg)	FRMD5 (C118R +3 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1703011	NM_032892.5(FRMD5):c.1053C>G (p.Ser351Arg)	FRMD5 (S117R +3 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1526449	GRCh37/hg19 15q15.3-21.1(chr15:44346958-44853978)	CTDSPL2, EIF3J +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 730910	NM_032892.5(FRMD5):c.542C>T (p.Thr181Met)	FRMD5 (T146M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 714651	NM_032892.5(FRMD5):c.1278T>C (p.Pro426=)	FRMD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713182	NM_032892.5(FRMD5):c.615T>C (p.Tyr205=)	FRMD5 (M1T)	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 55