MRPS10[gene] - ClinVar

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Items: 24

	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 2376180	NM_018141.4(MRPS10):c.593A>C (p.Glu198Ala)	MRPS10 (E198A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456141	NM_018141.4(MRPS10):c.559C>T (p.Pro187Ser)	MRPS10 (P187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296068	NM_018141.4(MRPS10):c.502G>A (p.Val168Ile)	MRPS10 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208539	NM_018141.4(MRPS10):c.474A>T (p.Glu158Asp)	MRPS10 (E158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355249	NM_018141.4(MRPS10):c.316A>G (p.Ile106Val)	MRPS10 (I106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208534	NM_018141.4(MRPS10):c.256G>A (p.Ala86Thr)	MRPS10 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208525	NM_018141.4(MRPS10):c.230C>T (p.Ser77Leu)	MRPS10 (S77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395926	NM_018141.4(MRPS10):c.108G>C (p.Leu36Phe)	MRPS10 (L36F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296067	NM_018141.4(MRPS10):c.41T>C (p.Leu14Pro)	LOC129996445, MRPS10 (L14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274890	NM_018141.4(MRPS10):c.23G>C (p.Gly8Ala)	LOC129996445, MRPS10 (G8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656548	NM_018141.4(MRPS10):c.15A>G (p.Thr5=)	LOC129996445, MRPS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2291185	NM_018141.4(MRPS10):c.5C>T (p.Ala2Val)	LOC129996445, MRPS10 (A2V)	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 1808459	GRCh37/hg19 6p21.1(chr6:42043510-42274148)x3	C6orf132, GUCA1A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527235	GRCh37/hg19 6p21.1(chr6:42063625-42274165)	GUCA1A, GUCA1B +3 more	Copy number gain	not specified	GUncertain significance
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 493566	GRCh37/hg19 6p21.1(chr6:42039993-42270812)x3	TAF8, TRERF1 +4 more	Copy number gain	not provided	GLikely pathogenic
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: 24