MRPS27[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153044	GRCh38/hg38 5q13.2(chr5:71915937-72562961)x3	LOC102503427, LOC113002591 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2235069	NM_015084.3(MRPS27):c.1139A>G (p.Gln380Arg)	MRPS27 (Q380R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209170	NM_015084.3(MRPS27):c.1130A>G (p.Gln377Arg)	MRPS27 (Q377R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261730	NM_015084.3(MRPS27):c.1116C>G (p.Ile372Met)	MRPS27 (I316M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393536	NM_015084.3(MRPS27):c.1112A>C (p.Asp371Ala)	MRPS27 (D371A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402912	NM_015084.3(MRPS27):c.1100G>A (p.Cys367Tyr)	MRPS27 (C311Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209159	NM_015084.3(MRPS27):c.1069A>G (p.Thr357Ala)	MRPS27 (T371A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209213	NM_015084.3(MRPS27):c.998G>A (p.Arg333Gln)	MRPS27 (R333Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588650	NM_015084.3(MRPS27):c.983C>T (p.Pro328Leu)	MRPS27 (P272L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209210	NM_015084.3(MRPS27):c.921C>A (p.Asn307Lys)	MRPS27 (N307K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508804	NM_015084.3(MRPS27):c.913G>A (p.Glu305Lys)	MRPS27 (E249K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787821	NM_015084.3(MRPS27):c.871A>G (p.Thr291Ala)	MRPS27 (T291A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3209203	NM_015084.3(MRPS27):c.841G>A (p.Asp281Asn)	MRPS27 (D295N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606948	NM_015084.3(MRPS27):c.841G>T (p.Asp281Tyr)	MRPS27 (D295Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791396	NM_015084.3(MRPS27):c.840C>T (p.Leu280=)	MRPS27	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2358539	NM_015084.3(MRPS27):c.784G>A (p.Val262Met)	MRPS27 (V206M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655523	NM_015084.3(MRPS27):c.757C>T (p.Pro253Ser)	MRPS27 (P197S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2216708	NM_015084.3(MRPS27):c.722G>A (p.Arg241Gln)	MRPS27 (R185Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368757	NM_015084.3(MRPS27):c.683A>G (p.Tyr228Cys)	MRPS27 (Y172C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209192	NM_015084.3(MRPS27):c.344A>G (p.Gln115Arg)	MRPS27 (Q115R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249072	NM_015084.3(MRPS27):c.299A>G (p.Asn100Ser)	MRPS27 (N100S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317151	NM_015084.3(MRPS27):c.178A>G (p.Thr60Ala)	MRPS27 (T4A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463540	NM_015084.3(MRPS27):c.175A>G (p.Lys59Glu)	MRPS27 (K3E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473976	NM_015084.3(MRPS27):c.103G>A (p.Val35Ile)	MRPS27 (V35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459529	NM_015084.3(MRPS27):c.30G>T (p.Met10Ile)	MRPS27 (M10I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209184	NM_015084.3(MRPS27):c.19C>T (p.Arg7Trp)	MRPS27 (R7W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, BDP1 +40 more	Copy number loss	See cases	GPathogenic
Select item 979681	GRCh37/hg19 5q13.2(chr5:71017577-72056514)x1	MRPS27, PTCD2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 35