ClinVar for Gene (Select 64976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2999274	NM_003776.4(MRPL40):c.58C>T (p.Leu20=)	MRPL40	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2997290	NM_003776.4(MRPL40):c.74C>G (p.Thr25Arg)	MRPL40 (T25R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2971763	NM_003776.4(MRPL40):c.296+18G>A	MRPL40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967903	NM_003776.4(MRPL40):c.138-19T>C	MRPL40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959950	NM_003776.4(MRPL40):c.529C>T (p.His177Tyr)	MRPL40 (H133Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954833	NM_003776.4(MRPL40):c.296+20G>C	MRPL40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2954813	NM_003776.4(MRPL40):c.516G>A (p.Glu172=)	MRPL40	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868160	NM_003776.4(MRPL40):c.296+7A>C	MRPL40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848184	NM_003776.4(MRPL40):c.346C>G (p.Leu116Val)	MRPL40 (L116V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793262	NM_003776.4(MRPL40):c.286G>A (p.Asp96Asn)	MRPL40 (D52N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719926	NM_003776.4(MRPL40):c.27C>G (p.Ile9Met)	LOC130066955, MRPL40 (I9M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684927	GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3	ARVCF, C22orf39 +30 more	Copy number gain	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2580321	GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1	ARVCF, C22orf39 +27 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	ARVCF, C22orf39 +30 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574689	GRCh37/hg19 22q11.21(chr22:18916842-20311810)	ARVCF, C22orf39 +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	ESS2, GGTLC3 +45 more	Copy number loss	not provided	GPathogenic
Select item 2568666	NM_003776.4(MRPL40):c.117C>G (p.Phe39Leu)	MRPL40 (F39L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2445211	Single allele	ZDHHC8, C22orf39 +45 more	Deletion	See cases	GPathogenic
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Immunodeficiency 51 +1 more	GPathogenic
Select item 2416866	NM_003776.4(MRPL40):c.494A>T (p.Asp165Val)	MRPL40 (D121V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413671	NM_003776.4(MRPL40):c.385C>T (p.Arg129Cys)	MRPL40 (R129C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2371413	NM_003776.4(MRPL40):c.350T>C (p.Leu117Pro)	MRPL40 (L73P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369990	NM_003776.4(MRPL40):c.320C>T (p.Thr107Ile)	MRPL40 (T107I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353425	NM_003776.4(MRPL40):c.13G>C (p.Val5Leu)	LOC130066955, MRPL40 (V5L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2302764	NM_003776.4(MRPL40):c.402C>G (p.Asp134Glu)	MRPL40 (D90E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193931	NM_003776.4(MRPL40):c.428A>T (p.Gln143Leu)	MRPL40 (Q99L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085799	NM_003776.4(MRPL40):c.332C>G (p.Thr111Ser)	MRPL40 (T67S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2072192	NM_003776.4(MRPL40):c.11C>A (p.Ser4Tyr)	LOC130066955, MRPL40 (S4Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2053920	NM_003776.4(MRPL40):c.384G>A (p.Glu128=)	MRPL40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2053351	NM_003776.4(MRPL40):c.12C>T (p.Ser4=)	LOC130066955, MRPL40	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1925841	NM_003776.4(MRPL40):c.2T>C (p.Met1Thr)	LOC130066955, MRPL40 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	PI4KA, PRODH +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	CLDN5, CLTCL1 +45 more	Copy number loss	not provided	GPathogenic
Select item 1809353	GRCh37/hg19 22q11.21(chr22:19147014-19689477)x1	C22orf39, CDC45 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808875	GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1	MRPL40, PRODH +37 more	Copy number loss	not provided	GPathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808737	GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1	ARVCF, C22orf39 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808679	GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1	ARVCF, C22orf39 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808633	GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1	AIFM3, ARVCF +50 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808608	GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1	AIFM3, ARVCF +47 more	Copy number loss	not provided	GPathogenic
Select item 1808457	GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1	ADA2, ATP6V1E1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 1808421	GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1	CDC45, CLTCL1 +43 more	Copy number loss	not provided	GPathogenic
Select item 1808239	GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1	ARVCF, C22orf39 +26 more	Copy number loss	not provided	GPathogenic
Select item 1808077	GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3	ARVCF, C22orf39 +28 more	Copy number gain	not provided	GPathogenic
Select item 1807729	GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1	CDC45, CLDN5 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807705	GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	P2RX6, PI4KA +45 more	Copy number gain	not provided	GPathogenic
Select item 1710917	GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 1708200	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	See cases	GPathogenic
Select item 1707629	GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1	AIFM3, ESS2 +47 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	USP18, USP41 +52 more	Copy number loss	Syndromic anorectal malformation	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703649	GRCh37/hg19 22q11.21(chr22:18916827-21804886)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703647	GRCh37/hg19 22q11.21(chr22:18917047-21465659)	AIFM3, ARVCF +44 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703644	GRCh37/hg19 22q11.21(chr22:18893344-21650280)	AIFM3, ARVCF +46 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703643	GRCh37/hg19 22q11.21(chr22:18648866-21798907)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703642	GRCh37/hg19 22q11.21(chr22:18644790-21800471)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703641	GRCh37/hg19 22q11.21(chr22:18916842-21798907)	AIFM3, ARVCF +47 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	ESS2, FAM230A +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703639	GRCh37/hg19 22q11.21(chr22:18645353-21800797)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703237	Single allele	AIFM3, LOC130066960 +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	LOC108510655, LOC110120888 +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	COMT, FAM230A +45 more	Copy number loss	not provided	GPathogenic
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 1684558	GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1	AIFM3, ARVCF +41 more	Copy number loss	See cases	GPathogenic
Select item 1684555	GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 1670179	NM_003776.4(MRPL40):c.54-18T>C	MRPL40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626380	NM_003776.4(MRPL40):c.54-20C>T	MRPL40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614131	NM_003776.4(MRPL40):c.137+11dup	MRPL40	Duplication (intron variant)	not provided	GLikely benign
Select item 1601566	NM_003776.4(MRPL40):c.54-10T>A	MRPL40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600225	NM_003776.4(MRPL40):c.492G>T (p.Arg164=)	MRPL40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1600139	NM_003776.4(MRPL40):c.386G>A (p.Arg129His)	MRPL40 (R129H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1534195	NM_003776.4(MRPL40):c.32T>C (p.Leu11Pro)	LOC130066955, MRPL40 (L11P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1456987	NC_000022.10:g.(?_18900668)_(19747220_?)del	C22orf39, CDC45 +14 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 1436468	NM_003776.4(MRPL40):c.10T>C (p.Ser4Pro)	LOC130066955, MRPL40 (S4P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430756	NC_000022.10:g.(?_18900688)_(21351637_?)dup	LZTR1, MED15 +41 more	Duplication	DiGeorge syndrome	GUncertain significance
Select item 1356522	NM_003776.4(MRPL40):c.551A>C (p.Asn184Thr)	MRPL40 (N184T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340577	GRCh37/hg19 22q11.21(chr22:19147411-19684730)x1	C22orf39, CDC45 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1330206	GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1	ARVCF, C22orf39 +36 more	Copy number loss	Schizophrenia	GPathogenic
Select item 1330197	GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1	AIFM3, ARVCF +47 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1321997	GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 1180540	GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1180539	GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3	MRPL40, P2RX6 +45 more	Copy number gain	not provided	GPathogenic
Select item 1180538	GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1	CLTCL1, COMT +45 more	Copy number loss	not provided	GPathogenic
Select item 1180537	GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3	THAP7, TMEM191B +45 more	Copy number gain	not provided	GPathogenic

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