ClinVar for Gene (Select 65080) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 159

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296029	NM_022915.5(MRPL44):c.502C>T (p.His168Tyr)	MRPL44 (H168Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296028	NM_022915.5(MRPL44):c.674G>T (p.Gly225Val)	MRPL44 (G225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296027	NM_022915.5(MRPL44):c.124C>G (p.Gln42Glu)	MRPL44 (Q42E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3207931	NM_022915.5(MRPL44):c.379G>A (p.Glu127Lys)	MRPL44 (E127K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2980886	NM_022915.5(MRPL44):c.129G>A (p.Lys43=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2968416	NM_022915.5(MRPL44):c.933A>G (p.Arg311=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859849	NM_022915.5(MRPL44):c.828-5dup	MRPL44	Duplication (intron 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 2800989	NM_022915.5(MRPL44):c.6G>A (p.Ala2=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780014	NM_022915.5(MRPL44):c.822A>G (p.Leu274=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2718107	NM_022915.5(MRPL44):c.868T>C (p.Leu290=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
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 2581610	NM_022915.5(MRPL44):c.786del (p.Gly263fs)	MRPL44 (G263fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2578897	NM_022915.5(MRPL44):c.993C>T (p.Ala331=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532658	NM_022915.5(MRPL44):c.866T>C (p.Val289Ala)	MRPL44 (V289A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2419487	NM_022915.5(MRPL44):c.464A>G (p.Asn155Ser)	MRPL44 (N155S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2406021	NM_022915.5(MRPL44):c.992C>T (p.Ala331Val)	MRPL44 (A331V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2320261	NM_022915.5(MRPL44):c.379G>C (p.Glu127Gln)	MRPL44 (E127Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2252810	NM_022915.5(MRPL44):c.646A>G (p.Arg216Gly)	MRPL44 (R216G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190662	NM_022915.5(MRPL44):c.733C>T (p.Leu245=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2127737	NM_022915.5(MRPL44):c.180-11T>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109585	NM_022915.5(MRPL44):c.828-8C>G	MRPL44	Single nucleotide variant (intron 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 2074170	NM_022915.5(MRPL44):c.561C>G (p.Pro187=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2053366	NM_022915.5(MRPL44):c.409C>G (p.Leu137Val)	MRPL44 (L137V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050469	NM_022915.5(MRPL44):c.972A>G (p.Arg324=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040808	NM_022915.5(MRPL44):c.943A>T (p.Asn315Tyr)	MRPL44 (N315Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2028504	NM_022915.5(MRPL44):c.763T>G (p.Ser255Ala)	MRPL44 (S255A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027624	NM_022915.5(MRPL44):c.828-15T>G	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2015996	NM_022915.5(MRPL44):c.580A>T (p.Thr194Ser)	MRPL44 (T194S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009365	NM_022915.5(MRPL44):c.855T>A (p.Pro285=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993959	NM_022915.5(MRPL44):c.207T>C (p.His69=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990794	NM_022915.5(MRPL44):c.375A>G (p.Leu125=)	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 1953745	NM_022915.5(MRPL44):c.649-9del	MRPL44	Deletion (intron variant)	not provided	GBenign
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 1940100	NM_022915.5(MRPL44):c.131A>T (p.Glu44Val)	MRPL44 (E44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931190	NM_022915.5(MRPL44):c.772A>G (p.Thr258Ala)	MRPL44 (T258A)	Single nucleotide variant (missense variant)	not provided	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 1925427	NM_022915.5(MRPL44):c.885G>C (p.Glu295Asp)	MRPL44 (E295D)	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 1703585	GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)	ACSL3, AP1S3 +13 more	Copy number loss	Waardenburg syndrome type 1	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
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 1695583	NM_022915.5(MRPL44):c.618T>G (p.Ser206Arg)	MRPL44 (S206R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675842	NM_022915.5(MRPL44):c.893G>C (p.Arg298Pro)	MRPL44 (R298P)	Single nucleotide variant (missense 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 1628428	NM_022915.5(MRPL44):c.237A>G (p.Leu79=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627694	NM_022915.5(MRPL44):c.177C>G (p.Arg59=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1625463	NM_022915.5(MRPL44):c.828-20A>G	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604661	NM_022915.5(MRPL44):c.279T>A (p.Val93=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570573	NM_022915.5(MRPL44):c.503A>T (p.His168Leu)	MRPL44 (H168L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1553789	NM_022915.5(MRPL44):c.78T>A (p.Pro26=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549109	NM_022915.5(MRPL44):c.318A>G (p.Gln106=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1526956	GRCh37/hg19 2q36.1(chr2:224487310-224882397)	AP1S3, MRPL44 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1521455	NM_022915.5(MRPL44):c.929A>G (p.Asn310Ser)	MRPL44 (N310S)	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 1496122	NM_022915.5(MRPL44):c.287G>A (p.Cys96Tyr)	MRPL44 (C96Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1488812	NM_022915.5(MRPL44):c.934C>T (p.Arg312Trp)	MRPL44 (R312W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479017	NM_022915.5(MRPL44):c.196T>C (p.Trp66Arg)	MRPL44 (W66R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1474012	NM_022915.5(MRPL44):c.671C>T (p.Thr224Ile)	MRPL44 (T224I)	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 1439085	NM_022915.5(MRPL44):c.520G>A (p.Ala174Thr)	MRPL44 (A174T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434117	NC_000002.11:g.(?_224623432)_(225449726_?)dup	AP1S3, CUL3 +4 more	Duplication	not provided	GUncertain significance
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 1424017	NM_022915.5(MRPL44):c.604C>G (p.Leu202Val)	MRPL44 (L202V)	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 1412686	NM_022915.5(MRPL44):c.345TCT[1] (p.Leu117del)	MRPL44 (L117del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1400248	NM_022915.5(MRPL44):c.47T>G (p.Leu16Arg)	LOC129935704, MRPL44 (L16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1393596	NM_022915.5(MRPL44):c.883G>A (p.Glu295Lys)	MRPL44 (E295K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1358949	NM_022915.5(MRPL44):c.648+5G>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1343008	NM_022915.5(MRPL44):c.34G>A (p.Gly12Arg)	LOC129935704, MRPL44 (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1301298	NM_022915.5(MRPL44):c.746A>G (p.Asn249Ser)	MRPL44 (N249S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1291205	NM_022915.5(MRPL44):c.*2C>T	MRPL44	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 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 1246226	NC_000002.12:g.223957389G>T	LOC129935704, MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1231654	NM_022915.5(MRPL44):c.648+165T>C	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230079	NM_022915.5(MRPL44):c.649-295dup	MRPL44	Duplication (intron 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 1210506	NM_022915.5(MRPL44):c.*81A>G	MRPL44	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

<< First< Prev

Page of 2