ClinVar for Gene (Select 116540) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208360	NM_053050.5(MRPL53):c.290G>A (p.Arg97Lys)	LOC129934129, MRPL53 (R97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208358	NM_053050.5(MRPL53):c.244A>G (p.Thr82Ala)	LOC129934129, MRPL53 (T82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208347	NM_053050.5(MRPL53):c.131C>T (p.Ser44Phe)	MRPL53 (S44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2623927	NM_053050.5(MRPL53):c.335G>C (p.Arg112Pro)	LOC129934129, MRPL53 (R112P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550066	NM_053050.5(MRPL53):c.44A>C (p.Gln15Pro)	MRPL53 (Q15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2479629	NM_053050.5(MRPL53):c.229C>T (p.Arg77Cys)	MRPL53 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2376620	NM_053050.5(MRPL53):c.148T>C (p.Ser50Pro)	MRPL53 (S50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322631	NM_053050.5(MRPL53):c.304A>C (p.Ser102Arg)	LOC129934129, MRPL53 (S102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318249	NM_053050.5(MRPL53):c.107C>G (p.Thr36Arg)	MRPL53 (T36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262352	NM_053050.5(MRPL53):c.127C>G (p.Arg43Gly)	MRPL53 (R43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27