ClinVar for Gene (Select 51642) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208211	NM_016055.6(MRPL48):c.164G>A (p.Gly55Asp)	MRPL48 (G96D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2519945	NM_016055.6(MRPL48):c.314G>A (p.Ser105Asn)	MRPL48 (S105N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510823	NM_016055.6(MRPL48):c.544G>A (p.Val182Ile)	MRPL48 (V223I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2407807	NM_016055.6(MRPL48):c.137G>A (p.Arg46Gln)	MRPL48 (R28Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405929	NM_016055.6(MRPL48):c.481G>A (p.Gly161Ser)	MRPL48 (G143S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373477	NM_016055.6(MRPL48):c.136C>T (p.Arg46Trp)	MRPL48 (R28W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238049	NM_016055.6(MRPL48):c.83C>T (p.Thr28Ile)	MRPL48 (T28I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527650	GRCh37/hg19 11q13.4(chr11:73444963-73777547)	C2CD3, COA4 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527649	GRCh37/hg19 11q13.4(chr11:73323208-73593392)	COA4, MRPL48 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1340460	GRCh37/hg19 11q13.4(chr11:73149024-73572314)x3	FAM168A, MRPL48 +2 more	Copy number gain	not provided	GLikely benign
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815440	GRCh37/hg19 11q13.4(chr11:73314584-73658201)x3	COA4, RAB6A +3 more	Copy number gain	not provided	GUncertain significance
Select item 686318	GRCh37/hg19 11q13.4(chr11:73395712-73788461)x3	C2CD3, COA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686083	GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4	C2CD3, COA4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563850	GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3	COA4, UCP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563843	GRCh37/hg19 11q13.4(chr11:73276899-73615810)x3	PLEKHB1, RAB6A +4 more	Copy number gain	not provided	GLikely benign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395265	GRCh37/hg19 11q13.4(chr11:73570217-73687662)x3	COA4, DNAJB13 +3 more	Copy number gain	See cases	GLikely benign
Select item 394189	GRCh37/hg19 11q13.4(chr11:73197127-73712308)x3	UCP3, COA4 +7 more	Copy number gain	See cases	GUncertain significance
Select item 152835	GRCh38/hg38 11q13.4(chr11:73859172-73977160)x3	COA4, DNAJB13 +11 more	Copy number gain	See cases	GUncertain significance
Select item 144545	GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3	C2CD3, COA4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58182	GRCh38/hg38 11q13.4(chr11:73647348-73927680)x3	COA4, LOC116216151 +15 more	Copy number gain	See cases	GUncertain significance
Select item 58165	GRCh38/hg38 11q13.4(chr11:73403238-73935284)x3	COA4, FAM168A +20 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 31