ClinVar for Gene (Select 219927) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295986	NM_181514.2(MRPL21):c.79C>T (p.Pro27Ser)	MRPL21 (P27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295985	NM_181514.2(MRPL21):c.50G>C (p.Cys17Ser)	MRPL21 (C17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207145	NM_181514.2(MRPL21):c.216G>T (p.Glu72Asp)	MRPL21 (E72D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207134	NM_181514.2(MRPL21):c.137A>G (p.Tyr46Cys)	MRPL21 (Y46C)	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 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2610822	NM_181514.2(MRPL21):c.112A>G (p.Arg38Gly)	MRPL21 (R38G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526238	NM_181514.2(MRPL21):c.584T>G (p.Ile195Arg)	MRPL21 (I195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523050	NM_181514.2(MRPL21):c.245A>T (p.Lys82Met)	MRPL21 (K82M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508567	NM_181514.2(MRPL21):c.581G>A (p.Arg194Gln)	MRPL21 (R194Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467794	NM_181514.2(MRPL21):c.205C>G (p.Pro69Ala)	MRPL21 (P69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458152	NM_181514.2(MRPL21):c.368C>T (p.Ala123Val)	MRPL21 (A38V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2408366	NM_181514.2(MRPL21):c.125A>G (p.Gln42Arg)	MRPL21 (Q42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279920	NM_181514.2(MRPL21):c.175C>T (p.Pro59Ser)	MRPL21 (P59S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266817	NM_181514.2(MRPL21):c.223C>G (p.His75Asp)	MRPL21 (H75D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247033	NM_181514.2(MRPL21):c.149A>G (p.Tyr50Cys)	MRPL21 (Y50C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218355	NM_181514.2(MRPL21):c.386G>A (p.Arg129Gln)	MRPL21 (R44Q +1 more)	Single nucleotide variant (missense variant)	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 1264772	NC_000011.10:g.68903809A>G	MRPL21, IGHMBP2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1245933	NC_000011.10:g.68903813_68903816CCG[2]CCATCTTCCCGC[1]	IGHMBP2, MRPL21	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1201097	NC_000011.10:g.68903737G>A	IGHMBP2, MRPL21 (S25L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1182091	NC_000011.10:g.68903633A>G	IGHMBP2, MRPL21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 668907	NM_002180.2(IGHMBP2):c.-317A>G	MRPL21, IGHMBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	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
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	C11orf24, CPT1A +96 more	Copy number gain	See cases	GLikely benign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 31