MRPS25[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 2380158	NM_022497.5(MRPS25):c.496G>A (p.Ala166Thr)	MRPS25 (A166T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356439	NM_022497.5(MRPS25):c.244T>C (p.Ser82Pro)	MRPS25 (S82P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261629	NM_022497.5(MRPS25):c.236A>G (p.Tyr79Cys)	MRPS25 (Y79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 978474	NM_022497.5(MRPS25):c.215C>T (p.Pro72Leu)	MRPS25	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 50	GPathogenic
Select item 3209128	NM_022497.5(MRPS25):c.152A>G (p.Asn51Ser)	MRPS25 (N51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309479	NM_022497.5(MRPS25):c.128G>T (p.Gly43Val)	MRPS25 (G43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209122	NM_022497.5(MRPS25):c.127G>A (p.Gly43Ser)	MRPS25 (G43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560121	NM_022497.5(MRPS25):c.121G>T (p.Gly41Cys)	MRPS25 (G41C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243220	NM_022497.5(MRPS25):c.107C>A (p.Thr36Lys)	MRPS25 (T36K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653591	NM_022497.5(MRPS25):c.105C>T (p.Asn35=)	MRPS25	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2531992	NM_022497.5(MRPS25):c.64G>A (p.Val22Met)	MRPS25 (V22M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546932	NM_022497.5(MRPS25):c.56G>A (p.Gly19Glu)	MRPS25 (G19E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209135	NM_022497.5(MRPS25):c.26T>A (p.Ile9Asn)	MRPS25 (I9N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342960	NM_022497.5(MRPS25):c.4C>T (p.Pro2Ser)	MRPS25 (P2S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 685415	GRCh37/hg19 3p25.1(chr3:15091247-15212820)x3	MRPS25, RBSN	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 36