ClinVar for Gene (Select 85019) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327007	NM_032933.6(TMEM241):c.674G>A (p.Gly225Glu)	TMEM241 (G104E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327006	NM_032933.6(TMEM241):c.823A>G (p.Thr275Ala)	TMEM241 (T154A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262644	NM_001100619.3(CABLES1):c.1882C>T (p.Arg628Trp)	CABLES1, TMEM241 (R628W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242762	NC_000018.9:g.(?_20516815)_(21534612_?)del	ANKRD29, CABLES1 +6 more	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3179257	NM_032933.6(TMEM241):c.95T>G (p.Phe32Cys)	TMEM241 (F32C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3179255	NM_032933.6(TMEM241):c.67A>T (p.Asn23Tyr)	TMEM241 (N23Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3179254	NM_032933.6(TMEM241):c.517C>T (p.Pro173Ser)	TMEM241 (P173S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179253	NM_032933.6(TMEM241):c.448G>A (p.Gly150Arg)	TMEM241 (G150R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179252	NM_032933.6(TMEM241):c.239T>C (p.Val80Ala)	TMEM241 (V80A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3136225	NM_001100619.3(CABLES1):c.1892A>T (p.Gln631Leu)	CABLES1, TMEM241 (Q366L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136221	NM_001100619.3(CABLES1):c.1502C>A (p.Thr501Asn)	CABLES1, TMEM241 (T236N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 2684871	GRCh37/hg19 18q11.2(chr18:20920907-21418343)x3	ANKRD29, LAMA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684870	GRCh37/hg19 18q11.2(chr18:20727902-21021472)x3	CABLES1, TMEM241	Copy number gain	not provided	GUncertain significance
Select item 2684869	GRCh37/hg19 18q11.2(chr18:20727641-21033786)x3	CABLES1, RIOK3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2551584	NM_001100619.3(CABLES1):c.1571G>A (p.Arg524Gln)	CABLES1, TMEM241 (R197Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510152	NM_032933.6(TMEM241):c.425A>G (p.Asn142Ser)	TMEM241 (N142S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481162	NM_001100619.3(CABLES1):c.1465G>C (p.Val489Leu)	CABLES1, TMEM241 (V162L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457711	NM_001100619.3(CABLES1):c.1627G>A (p.Val543Ile)	CABLES1, TMEM241 (V216I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422760	NC_000018.9:g.(?_18963480)_(21534612_?)dup	ABHD3, ANKRD29 +15 more	Duplication	Niemann-Pick disease, type C1	GUncertain significance
Select item 2391412	NM_001100619.3(CABLES1):c.1877A>G (p.Tyr626Cys)	CABLES1, TMEM241 (Y299C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369729	NM_032933.6(TMEM241):c.304C>T (p.His102Tyr)	TMEM241 (H102Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2368128	NM_032933.6(TMEM241):c.172T>G (p.Trp58Gly)	TMEM241 (W58G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2358220	NM_001100619.3(CABLES1):c.1645G>A (p.Ala549Thr)	CABLES1, TMEM241 (A222T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357137	NM_001100619.3(CABLES1):c.1855G>A (p.Glu619Lys)	CABLES1, TMEM241 (E354K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321019	NM_032933.6(TMEM241):c.702T>A (p.Ser234Arg)	TMEM241 (S113R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284000	NM_032933.6(TMEM241):c.280G>A (p.Ala94Thr)	TMEM241 (A94T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2276656	NM_032933.6(TMEM241):c.146T>G (p.Leu49Trp)	TMEM241 (L49W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2237297	NM_032933.6(TMEM241):c.616G>A (p.Val206Ile)	TMEM241 (V206I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221687	NM_001100619.3(CABLES1):c.1520C>T (p.Pro507Leu)	CABLES1, TMEM241 (P180L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216680	NM_001100619.3(CABLES1):c.1475C>T (p.Ser492Leu)	CABLES1, TMEM241 (S492L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 979687	GRCh37/hg19 18q11.2(chr18:20904405-20971321)x1	TMEM241	Copy number loss	not provided	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815991	GRCh37/hg19 18q11.2(chr18:20958811-21082161)x1	TMEM241, RIOK3	Copy number loss	not provided	GLikely benign
Select item 564547	GRCh37/hg19 18q11.2(chr18:20803607-24109364)x1	HRH4, ZNF521 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 67