65080[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146029	GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	ACSL3, ACSL3-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 58846	GRCh38/hg38 2q36.1(chr2:223597428-224061556)x1	AP1S3, LOC112840902 +29 more	Copy number loss	See cases	GPathogenic
Select item 682627	NM_022915.3(MRPL44):c.-400A>T	MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1223261	NC_000002.12:g.223957267T>G	LOC129935703, MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1220313	NC_000002.12:g.223957323C>A	MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1178614	NC_000002.12:g.223957326C>G	MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1246226	NC_000002.12:g.223957389G>T	LOC129935704, MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 2800989	NM_022915.5(MRPL44):c.6G>A (p.Ala2=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956033	NM_022915.5(MRPL44):c.6G>T (p.Ala2=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592751	NM_022915.5(MRPL44):c.19A>G (p.Arg7Gly)	LOC129935704, MRPL44 (R7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2018739	NM_022915.5(MRPL44):c.27G>T (p.Leu9=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422037	NM_022915.5(MRPL44):c.30G>C (p.Gln10His)	LOC129935704, MRPL44 (Q10H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381827	NM_022915.5(MRPL44):c.30G>A (p.Gln10=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1343008	NM_022915.5(MRPL44):c.34G>A (p.Gly12Arg)	LOC129935704, MRPL44 (G12R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214666	NM_022915.5(MRPL44):c.38A>G (p.His13Arg)	LOC129935704, MRPL44 (H13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196100	NM_022915.5(MRPL44):c.40C>T (p.Arg14Cys)	LOC129935704, MRPL44 (R14C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1400248	NM_022915.5(MRPL44):c.47T>G (p.Leu16Arg)	MRPL44, LOC129935704 (L16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060213	NM_022915.5(MRPL44):c.51G>A (p.Leu17=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079032	NM_022915.5(MRPL44):c.53C>A (p.Ala18Asp)	LOC129935704, MRPL44 (A18D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166475	NM_022915.5(MRPL44):c.62C>T (p.Ala21Val)	LOC129935704, MRPL44 (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553789	NM_022915.5(MRPL44):c.78T>A (p.Pro26=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396119	NM_022915.5(MRPL44):c.92T>A (p.Val31Glu)	MRPL44 (V31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907608	NM_022915.5(MRPL44):c.103T>G (p.Phe35Val)	MRPL44 (F35V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1467357	NM_022915.5(MRPL44):c.109G>T (p.Ala37Ser)	MRPL44 (A37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980886	NM_022915.5(MRPL44):c.129G>A (p.Lys43=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940100	NM_022915.5(MRPL44):c.131A>T (p.Glu44Val)	MRPL44 (E44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422025	NM_022915.5(MRPL44):c.175C>T (p.Arg59Cys)	MRPL44 (R59C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627694	NM_022915.5(MRPL44):c.177C>G (p.Arg59=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 513607	NM_022915.5(MRPL44):c.179+9C>T	MRPL44	Single nucleotide variant (intron variant)	MRPL44-related disorder +1 more	GLikely benign
Select item 1191372	NM_022915.5(MRPL44):c.179+206C>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682628	NM_022915.5(MRPL44):c.179+301T>C	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669505	NM_022915.5(MRPL44):c.180-249C>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2127737	NM_022915.5(MRPL44):c.180-11T>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2271547	NM_022915.5(MRPL44):c.191C>T (p.Pro64Leu)	MRPL44 (P64L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 704555	NM_022915.5(MRPL44):c.192G>T (p.Pro64=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479017	NM_022915.5(MRPL44):c.196T>C (p.Trp66Arg)	MRPL44 (W66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1993959	NM_022915.5(MRPL44):c.207T>C (p.His69=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2339104	NM_022915.5(MRPL44):c.208G>A (p.Ala70Thr)	MRPL44 (A70T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1928508	NM_022915.5(MRPL44):c.217C>A (p.Gln73Lys)	MRPL44 (Q73K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697344	NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln)	MRPL44	Single nucleotide variant (missense variant)	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	GLikely pathogenic
Select item 1628428	NM_022915.5(MRPL44):c.237A>G (p.Leu79=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559367	NM_022915.5(MRPL44):c.244A>G (p.Asn82Asp)	MRPL44 (N82D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1604661	NM_022915.5(MRPL44):c.279T>A (p.Val93=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496122	NM_022915.5(MRPL44):c.287G>A (p.Cys96Tyr)	MRPL44 (C96Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516082	NM_022915.5(MRPL44):c.290A>G (p.Tyr97Cys)	MRPL44 (Y97C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748515	NM_022915.5(MRPL44):c.292A>G (p.Ile98Val)	MRPL44 (I98V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 214667	NM_022915.5(MRPL44):c.313C>T (p.Arg105Cys)	MRPL44 (R105C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1549109	NM_022915.5(MRPL44):c.318A>G (p.Gln106=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412686	NM_022915.5(MRPL44):c.345TCT[1] (p.Leu117del)	MRPL44 (L117del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1990794	NM_022915.5(MRPL44):c.375A>G (p.Leu125=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850374	NM_022915.5(MRPL44):c.378C>T (p.Ser126=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3207931	NM_022915.5(MRPL44):c.379G>A (p.Glu127Lys)	MRPL44 (E127K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320261	NM_022915.5(MRPL44):c.379G>C (p.Glu127Gln)	MRPL44 (E127Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1536986	NM_022915.5(MRPL44):c.404C>A (p.Thr135Asn)	MRPL44 (T135N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2053366	NM_022915.5(MRPL44):c.409C>G (p.Leu137Val)	MRPL44 (L137V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138243	NM_022915.5(MRPL44):c.413C>T (p.Thr138Ile)	MRPL44 (T138I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1433450	NM_022915.5(MRPL44):c.416A>T (p.Gln139Leu)	MRPL44 (Q139L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968951	NM_022915.5(MRPL44):c.430G>A (p.Glu144Lys)	MRPL44 (E144K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040547	NM_022915.5(MRPL44):c.457A>C (p.Ile153Leu)	MRPL44 (I153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419487	NM_022915.5(MRPL44):c.464A>G (p.Asn155Ser)	MRPL44 (N155S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251974	NM_022915.5(MRPL44):c.467T>C (p.Leu156Pro)	MRPL44 (L156P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64624	NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)	MRPL44 (L156R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1251973	NM_022915.5(MRPL44):c.481_484delinsTC (p.Thr161fs)	MRPL44 (T161fs)	Indel (frameshift variant)	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	GPathogenic
Select item 585160	NM_022915.5(MRPL44):c.496G>A (p.Val166Met)	MRPL44 (V166M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570573	NM_022915.5(MRPL44):c.503A>T (p.His168Leu)	MRPL44 (H168L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 446074	NM_022915.5(MRPL44):c.505G>T (p.Val169Leu)	MRPL44 (V169L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439085	NM_022915.5(MRPL44):c.520G>A (p.Ala174Thr)	MRPL44 (A174T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138244	NM_022915.5(MRPL44):c.546A>G (p.Glu182=)	MRPL44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2074170	NM_022915.5(MRPL44):c.561C>G (p.Pro187=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015996	NM_022915.5(MRPL44):c.580A>T (p.Thr194Ser)	MRPL44 (T194S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441127	NM_022915.5(MRPL44):c.584T>C (p.Phe195Ser)	MRPL44 (F195S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424017	NM_022915.5(MRPL44):c.604C>G (p.Leu202Val)	MRPL44 (L202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233987	NM_022915.5(MRPL44):c.610C>T (p.Gln204Ter)	MRPL44 (Q204*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1950180	NM_022915.5(MRPL44):c.612G>T (p.Gln204His)	MRPL44 (Q204H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695583	NM_022915.5(MRPL44):c.618T>G (p.Ser206Arg)	MRPL44 (S206R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138245	NM_022915.5(MRPL44):c.624T>C (p.Pro208=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2252810	NM_022915.5(MRPL44):c.646A>G (p.Arg216Gly)	MRPL44 (R216G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214665	NM_022915.5(MRPL44):c.648+4C>T	MRPL44	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1358949	NM_022915.5(MRPL44):c.648+5G>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1656926	NM_022915.5(MRPL44):c.648+11A>G	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379868	NM_022915.5(MRPL44):c.648+16T>C	MRPL44	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1231654	NM_022915.5(MRPL44):c.648+165T>C	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198045	NM_022915.5(MRPL44):c.648+171T>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230079	NM_022915.5(MRPL44):c.649-295dup	MRPL44	Duplication (intron variant)	not provided	GBenign
Select item 682635	NM_022915.5(MRPL44):c.649-175G>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1953745	NM_022915.5(MRPL44):c.649-9del	MRPL44	Deletion (intron variant)	not provided	GBenign
Select item 1390368	NM_022915.5(MRPL44):c.662C>T (p.Thr221Ile)	MRPL44 (T221I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474012	NM_022915.5(MRPL44):c.671C>T (p.Thr224Ile)	MRPL44 (T224I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 138246	NM_022915.5(MRPL44):c.672T>A (p.Thr224=)	MRPL44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1626843	NM_022915.5(MRPL44):c.721T>C (p.Leu241=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1489860	NM_022915.5(MRPL44):c.723G>C (p.Leu241Phe)	MRPL44 (L241F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190662	NM_022915.5(MRPL44):c.733C>T (p.Leu245=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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