CABYR[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 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 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 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	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 2285625	NM_153769.3(CABYR):c.223A>T (p.Thr75Ser)	CABYR (T57S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2289045	NM_153769.3(CABYR):c.226C>T (p.Pro76Ser)	CABYR (P76S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283536	NM_153769.3(CABYR):c.280A>G (p.Lys94Glu)	CABYR (K76E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3136265	NM_153769.3(CABYR):c.343T>A (p.Tyr115Asn)	CABYR (Y115N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491372	NM_153769.3(CABYR):c.389G>A (p.Gly130Asp)	CABYR (G112D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393488	NM_153769.3(CABYR):c.415G>A (p.Gly139Ser)	CABYR (G41S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391318	NM_153769.3(CABYR):c.472C>T (p.Pro158Ser)	CABYR (P60S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548845	NM_153769.3(CABYR):c.502G>A (p.Val168Ile)	CABYR (V168I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551975	NM_153769.3(CABYR):c.541+69G>A	CABYR (V186I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383247	NM_153769.3(CABYR):c.541+105G>A	CABYR (E118K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136266	NM_153769.3(CABYR):c.541+127C>T	CABYR (P205L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258127	NM_153769.3(CABYR):c.541+155A>C	CABYR (E134D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136267	NM_153769.3(CABYR):c.541+186G>A	CABYR (V225I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136268	NM_153769.3(CABYR):c.541+199C>T	CABYR (S149F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136269	NM_153769.3(CABYR):c.541+205C>T	CABYR (P151L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371172	NM_153769.3(CABYR):c.541+232C>T	CABYR (T160M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249432	NM_153769.3(CABYR):c.541+294G>T	CABYR (V261F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252078	NM_153769.3(CABYR):c.541+302G>T	CABYR (L183F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136270	NM_153769.3(CABYR):c.541+306G>C	CABYR (A265P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475375	NM_153769.3(CABYR):c.541+337T>C	CABYR (I195T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355155	NM_153769.3(CABYR):c.541+424A>G	CABYR (D224G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485900	NM_153769.3(CABYR):c.541+445A>C	CABYR (E329A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293639	NM_153769.3(CABYR):c.541+445A>G	CABYR (E329G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254494	NM_153769.3(CABYR):c.541+455G>C	CABYR (Q234H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611409	NM_153769.3(CABYR):c.541+570A>T	CABYR (N273Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360923	NM_153769.3(CABYR):c.541+657G>A	CABYR (A302T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136264	NM_153769.3(CABYR):c.541+787A>G	CABYR (Q345R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227345	NM_153769.3(CABYR):c.541+844G>C	CABYR (G444A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273181	NM_153769.3(CABYR):c.541+933G>A	CABYR (A492T +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 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	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
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 685091	GRCh37/hg19 18q11.2(chr18:21391033-21964238)x1	LAMA3, OSBPL1A +2 more	Copy number loss	not provided	GUncertain significance
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 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 253792	GRCh37/hg19 18q11.2(chr18:21430733-22265398)x3	OSBPL1A, HRH4 +4 more	Copy number gain	See cases	GUncertain significance
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

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Items: 64