MRPS18A[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 149124	GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3	GTPBP2, LOC121132685 +27 more	Copy number gain	See cases	GUncertain significance
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 2455815	NM_018135.4(MRPS18A):c.562T>C (p.Ser188Pro)	RSPH9, MRPS18A (S188P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359481	NM_018135.4(MRPS18A):c.542T>C (p.Leu181Pro)	MRPS18A, RSPH9 (L181P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2411260	NM_018135.4(MRPS18A):c.526G>A (p.Val176Met)	MRPS18A, RSPH9 (V176M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2208139	NM_018135.4(MRPS18A):c.520A>G (p.Met174Val)	MRPS18A, RSPH9 (M174V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208816	NM_018135.4(MRPS18A):c.517C>G (p.Arg173Gly)	MRPS18A, RSPH9 (R173G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2467641	NM_018135.4(MRPS18A):c.505T>C (p.Trp169Arg)	MRPS18A, RSPH9 (W169R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208808	NM_018135.4(MRPS18A):c.502C>G (p.Arg168Gly)	MRPS18A, RSPH9 (R168G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208802	NM_018135.4(MRPS18A):c.482C>T (p.Pro161Leu)	MRPS18A, RSPH9 (P161L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208800	NM_018135.4(MRPS18A):c.475G>A (p.Val159Ile)	MRPS18A, RSPH9 (V159I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2325800	NM_018135.4(MRPS18A):c.466C>T (p.Pro156Ser)	MRPS18A, RSPH9 (P156S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2297007	NM_018135.4(MRPS18A):c.422C>T (p.Pro141Leu)	MRPS18A (P141L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355780	NM_018135.4(MRPS18A):c.401G>A (p.Arg134Gln)	MRPS18A (R134Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208785	NM_018135.4(MRPS18A):c.371G>A (p.Arg124Gln)	MRPS18A (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296080	NM_018135.4(MRPS18A):c.338G>A (p.Arg113His)	MRPS18A (R113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208781	NM_018135.4(MRPS18A):c.311T>A (p.Ile104Asn)	MRPS18A (I104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296079	NM_018135.4(MRPS18A):c.310A>G (p.Ile104Val)	MRPS18A (I104V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472559	NM_018135.4(MRPS18A):c.279C>G (p.Ile93Met)	MRPS18A (I93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388440	NM_018135.4(MRPS18A):c.221G>A (p.Arg74His)	MRPS18A (R74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206604	NM_018135.4(MRPS18A):c.220C>T (p.Arg74Cys)	MRPS18A (R74C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458306	NM_018135.4(MRPS18A):c.206A>G (p.Gln69Arg)	MRPS18A (Q69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312742	NM_018135.4(MRPS18A):c.154C>T (p.Arg52Cys)	MRPS18A (R52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570281	NM_018135.4(MRPS18A):c.136A>G (p.Thr46Ala)	MRPS18A (T46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243815	NM_018135.4(MRPS18A):c.122C>T (p.Thr41Ile)	MRPS18A (T41I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296081	NM_018135.4(MRPS18A):c.101G>C (p.Gly34Ala)	MRPS18A (G34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220766	NM_018135.4(MRPS18A):c.13A>C (p.Lys5Gln)	MRPS18A (K5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1809270	GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	CAPN11, GTPBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DLK2, ABCC10 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 41