ClinVar for Gene (Select 740) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296041	NM_004927.4(MRPL49):c.389C>T (p.Pro130Leu)	MRPL49 (P130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208270	NM_004927.4(MRPL49):c.71G>A (p.Arg24Gln)	LOC130005993, MRPL49 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208255	NM_004927.4(MRPL49):c.280A>G (p.Ile94Val)	MRPL49 (I94V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208239	NM_004927.4(MRPL49):c.268C>T (p.Arg90Trp)	MRPL49 (R90W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208232	NM_004927.4(MRPL49):c.266C>G (p.Ser89Cys)	MRPL49 (S89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2691726	NM_004927.4(MRPL49):c.125_126del (p.Val42fs)	MRPL49 (V42fs)	Microsatellite (frameshift variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 2691725	NM_004927.4(MRPL49):c.275A>C (p.His92Pro)	MRPL49 (H92P)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 2691724	NM_004927.4(MRPL49):c.263G>A (p.Arg88His)	MRPL49 (R88H)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 2691723	NM_004927.4(MRPL49):c.262C>T (p.Arg88Cys)	MRPL49 (R88C)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2533161	NM_004927.4(MRPL49):c.273G>C (p.Met91Ile)	MRPL49 (M91I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524961	NM_004927.4(MRPL49):c.302C>T (p.Thr101Met)	MRPL49 (T101M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486859	NM_004927.4(MRPL49):c.89A>G (p.Gln30Arg)	MRPL49 (Q30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2282571	NM_004927.4(MRPL49):c.292A>G (p.Lys98Glu)	MRPL49 (K98E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269610	NM_004927.4(MRPL49):c.298A>G (p.Ile100Val)	MRPL49 (I100V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25