MRPL12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 669504	NM_002949.3(MRPL12):c.-410G>A	MRPL12	Single nucleotide variant	not provided	GBenign
Select item 1272023	NC_000017.11:g.81703243T>C	MRPL12	Single nucleotide variant	not provided	GBenign
Select item 1246942	NC_000017.11:g.81703356A>G	MRPL12	Single nucleotide variant	not provided	GBenign
Select item 385422	NM_002949.4(MRPL12):c.-46C>T	MRPL12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380556	NM_002949.4(MRPL12):c.-30A>C	MRPL12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2042837	NM_002949.4(MRPL12):c.7C>T (p.Pro3Ser)	MRPL12 (P3S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2052142	NM_002949.4(MRPL12):c.35C>G (p.Pro12Arg)	MRPL12 (P12R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3295953	NM_002949.4(MRPL12):c.38G>A (p.Cys13Tyr)	MRPL12 (C13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1599574	NM_002949.4(MRPL12):c.44G>A (p.Gly15Glu)	MRPL12 (G15E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2672713	NM_002949.4(MRPL12):c.60G>A (p.Ala20=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938901	NM_002949.4(MRPL12):c.73A>G (p.Arg25Gly)	MRPL12 (R25G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972936	NM_002949.4(MRPL12):c.74+12C>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676742	NM_002949.4(MRPL12):c.74+37G>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298037	NM_002949.4(MRPL12):c.74+91G>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317977	NM_002949.4(MRPL12):c.75-120G>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676743	NM_002949.4(MRPL12):c.75-66T>C	MRPL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298149	NM_002949.4(MRPL12):c.75-13_75-11del	MRPL12	Deletion (intron variant)	not provided	GBenign
Select item 384219	NM_002949.4(MRPL12):c.75-6G>A	MRPL12	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1552003	NM_002949.4(MRPL12):c.76C>A (p.Arg26=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923794	NM_002949.4(MRPL12):c.77G>A (p.Arg26Gln)	MRPL12 (R26Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1997264	NM_002949.4(MRPL12):c.81G>C (p.Gln27His)	MRPL12 (Q27H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3206737	NM_002949.4(MRPL12):c.85C>T (p.Pro29Ser)	MRPL12 (P29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 506652	NM_002949.4(MRPL12):c.87A>G (p.Pro29=)	MRPL12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1985685	NM_002949.4(MRPL12):c.88T>C (p.Cys30Arg)	MRPL12 (C30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979263	NM_002949.4(MRPL12):c.97G>A (p.Ala33Thr)	MRPL12 (A33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381440	NM_002949.4(MRPL12):c.99C>T (p.Ala33=)	MRPL12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2404102	NM_002949.4(MRPL12):c.103C>G (p.Arg35Gly)	MRPL12 (R35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2792113	NM_002949.4(MRPL12):c.105A>G (p.Arg35=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789671	NM_002949.4(MRPL12):c.120C>T (p.Ser40=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380074	NM_002949.4(MRPL12):c.133T>C (p.Cys45Arg)	MRPL12 (C45R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2915944	NM_002949.4(MRPL12):c.144C>T (p.Leu48=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3206680	NM_002949.4(MRPL12):c.149G>C (p.Gly50Ala)	MRPL12 (G50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206688	NM_002949.4(MRPL12):c.151G>A (p.Ala51Thr)	MRPL12 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2721875	NM_002949.4(MRPL12):c.186dup (p.Lys63fs)	MRPL12 (K63fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2375528	NM_002949.4(MRPL12):c.185C>G (p.Pro62Arg)	MRPL12 (P62R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2185079	NM_002949.4(MRPL12):c.185C>A (p.Pro62His)	MRPL12 (P62H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906724	NM_002949.4(MRPL12):c.218G>A (p.Ser73Asn)	MRPL12 (S73N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419183	NM_002949.4(MRPL12):c.227T>C (p.Leu76Pro)	MRPL12 (L76P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982676	NM_002949.4(MRPL12):c.231G>A (p.Leu77=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004764	NM_002949.4(MRPL12):c.243C>T (p.Asp81=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970251	NM_002949.4(MRPL12):c.256C>T (p.Leu86=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 507145	NM_002949.4(MRPL12):c.261+4T>C	MRPL12	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385027	NM_002949.4(MRPL12):c.261+5C>T	MRPL12	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2977201	NM_002949.4(MRPL12):c.261+6G>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1991821	NM_002949.4(MRPL12):c.261+9A>G	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515448	NM_002949.4(MRPL12):c.261+18C>G	MRPL12	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1316271	NM_002949.4(MRPL12):c.262-33G>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670832	NM_002949.4(MRPL12):c.262-10A>G	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387993	NM_002949.4(MRPL12):c.285C>T (p.Val95=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553693	NM_002949.4(MRPL12):c.289C>T (p.Leu97Phe)	MRPL12 (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 380549	NM_002949.4(MRPL12):c.313T>C (p.Ser105Pro)	MRPL12 (S105P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1985649	NM_002949.4(MRPL12):c.327TGC[3] (p.Ala113_Gln114insAla)	MRPL12	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1972784	NM_002949.4(MRPL12):c.326C>T (p.Pro109Leu)	MRPL12 (P109L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860495	NM_002949.4(MRPL12):c.335C>A (p.Ala112Glu)	MRPL12 (A112E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249740	NM_002949.4(MRPL12):c.346-127T>C	MRPL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989694	NM_002949.4(MRPL12):c.346-17_346-15del	MRPL12	Microsatellite (intron variant)	not provided	GBenign
Select item 1966250	NM_002949.4(MRPL12):c.346-17C>T	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901120	NM_002949.4(MRPL12):c.348G>A (p.Ala116=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2716585	NM_002949.4(MRPL12):c.351G>A (p.Val117=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3206699	NM_002949.4(MRPL12):c.370G>C (p.Ala124Pro)	MRPL12 (A124P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2877827	NM_002949.4(MRPL12):c.371C>T (p.Ala124Val)	MRPL12 (A124V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419807	NM_002949.4(MRPL12):c.372G>A (p.Ala124=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557548	NM_002949.4(MRPL12):c.377A>G (p.Glu126Gly)	MRPL12 (E126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2413755	NM_002949.4(MRPL12):c.379C>T (p.Arg127Trp)	MRPL12 (R127W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084220	NM_002949.4(MRPL12):c.380G>A (p.Arg127Gln)	MRPL12 (R127Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022423	NM_002949.4(MRPL12):c.384A>T (p.Thr128=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3206707	NM_002949.4(MRPL12):c.385C>T (p.His129Tyr)	MRPL12 (H129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1900908	NM_002949.4(MRPL12):c.394G>A (p.Val132Ile)	MRPL12 (V132I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3206713	NM_002949.4(MRPL12):c.397C>T (p.Arg133Cys)	MRPL12 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2069126	NM_002949.4(MRPL12):c.399C>T (p.Arg133=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3206716	NM_002949.4(MRPL12):c.409G>A (p.Ala137Thr)	MRPL12 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 390909	NM_002949.4(MRPL12):c.411G>A (p.Ala137=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888534	NM_002949.4(MRPL12):c.418G>A (p.Val140Met)	MRPL12 (V140M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000519	NM_002949.4(MRPL12):c.429G>T (p.Val143=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975004	NM_002949.4(MRPL12):c.445A>G (p.Ile149Val)	MRPL12 (I149V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1951095	NM_002949.4(MRPL12):c.453C>T (p.Asn151=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2405452	NM_002949.4(MRPL12):c.455A>G (p.Tyr152Cys)	MRPL12 (Y152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2154767	NM_002949.4(MRPL12):c.465C>A (p.Gly155=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490880	NM_002949.4(MRPL12):c.479A>G (p.Gln160Arg)	MRPL12 (Q160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2868397	NM_002949.4(MRPL12):c.480+10G>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936535	NM_002949.4(MRPL12):c.480+11C>T	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291036	NM_002949.4(MRPL12):c.480+24G>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318324	NM_002949.4(MRPL12):c.480+36G>A	MRPL12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421082	NM_002949.4(MRPL12):c.481-13CT[3]	MRPL12	Microsatellite (intron variant)	not specified	GLikely benign
Select item 2032168	NM_002949.4(MRPL12):c.497A>G (p.Glu166Gly)	MRPL12 (E166G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518096	NM_002949.4(MRPL12):c.528C>T (p.Val176=)	MRPL12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 973971	NM_002949.4(MRPL12):c.542C>T (p.Ala181Val)	MRPL12 (A181V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 45	GPathogenic
Select item 2073205	NM_002949.4(MRPL12):c.557C>T (p.Ala186Val)	MRPL12 (A186V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390427	NM_002949.4(MRPL12):c.576C>T (p.Gly192=)	MRPL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052943	NM_002949.4(MRPL12):c.580A>G (p.Thr194Ala)	MRPL12 (T194A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2130529	NM_002949.4(MRPL12):c.583G>A (p.Val195Met)	MRPL12 (V195M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318134	NM_002949.4(MRPL12):c.*10C>T	MRPL12	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1271186	NM_002949.4(MRPL12):c.*33dup	MRPL12	Duplication (3 prime UTR variant)	not provided	GBenign

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