7473[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 147751	GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3	ADAMTS16, ADAMTS16-DT +161 more	Copy number gain	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	GPathogenic
Select item 150605	GRCh38/hg38 5p15.31(chr5:7634264-8158777)x3	ADCY2, CFAP90 +13 more	Copy number gain	See cases	GUncertain significance
Select item 151161	GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1	ADCY2, ANKRD33B +112 more	Copy number loss	See cases	GPathogenic
Select item 147471	GRCh38/hg38 5p15.31(chr5:7701344-8275266)x3	ADCY2, CFAP90 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2284101	NM_024091.4(FASTKD3):c.1956T>A (p.Phe652Leu)	FASTKD3, MTRR (F652L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277761	NM_024091.4(FASTKD3):c.1646G>A (p.Gly549Glu)	FASTKD3, MTRR (G549E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387476	NM_024091.4(FASTKD3):c.1580C>T (p.Ser527Phe)	FASTKD3, MTRR (S527F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092989	NM_024091.4(FASTKD3):c.1556A>C (p.Lys519Thr)	FASTKD3, MTRR (K519T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262275	NM_024091.4(FASTKD3):c.1469G>A (p.Arg490Gln)	FASTKD3, MTRR (R490Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274390	NM_024091.4(FASTKD3):c.1466G>T (p.Ser489Ile)	FASTKD3, MTRR (S489I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592753	NM_024091.4(FASTKD3):c.1430G>A (p.Arg477Gln)	FASTKD3, MTRR (R477Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092988	NM_024091.4(FASTKD3):c.1408T>C (p.Phe470Leu)	FASTKD3, MTRR (F470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790563	NM_024091.4(FASTKD3):c.1375G>C (p.Glu459Gln)	FASTKD3, MTRR (E459Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771859	NM_024091.4(FASTKD3):c.1296G>T (p.Leu432=)	FASTKD3, MTRR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2324216	NM_024091.4(FASTKD3):c.1267C>T (p.Pro423Ser)	FASTKD3, MTRR (P423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389515	NM_024091.4(FASTKD3):c.1256A>G (p.Asn419Ser)	FASTKD3, MTRR (N419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234968	NM_024091.4(FASTKD3):c.1213C>T (p.Pro405Ser)	FASTKD3, MTRR (P405S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401406	NM_024091.4(FASTKD3):c.1162A>G (p.Ile388Val)	FASTKD3, MTRR (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606059	NM_024091.4(FASTKD3):c.1150C>T (p.Leu384Phe)	FASTKD3, MTRR (L384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277758	NM_024091.4(FASTKD3):c.1124T>C (p.Met375Thr)	FASTKD3, MTRR (M375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092985	NM_024091.4(FASTKD3):c.1103C>T (p.Pro368Leu)	FASTKD3, MTRR (P368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476538	NM_024091.4(FASTKD3):c.1026A>G (p.Ile342Met)	FASTKD3, MTRR (I342M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207642	NM_024091.4(FASTKD3):c.1019C>T (p.Ala340Val)	FASTKD3, MTRR (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312603	NM_024091.4(FASTKD3):c.998A>G (p.Glu333Gly)	FASTKD3, MTRR (E333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495432	NM_024091.4(FASTKD3):c.989C>G (p.Thr330Ser)	FASTKD3, MTRR (T330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092994	NM_024091.4(FASTKD3):c.859A>G (p.Ile287Val)	FASTKD3, MTRR (I287V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225624	NM_024091.4(FASTKD3):c.789G>C (p.Leu263Phe)	FASTKD3, MTRR (L263F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277757	NM_024091.4(FASTKD3):c.788T>G (p.Leu263Trp)	FASTKD3, MTRR (L263W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092993	NM_024091.4(FASTKD3):c.744G>T (p.Leu248Phe)	FASTKD3, MTRR (L248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348581	NM_024091.4(FASTKD3):c.712C>A (p.Leu238Ile)	FASTKD3, MTRR (L238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477268	NM_024091.4(FASTKD3):c.658A>G (p.Ile220Val)	FASTKD3, MTRR (I220V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362774	NM_024091.4(FASTKD3):c.647G>A (p.Arg216His)	FASTKD3, MTRR (R216H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255278	NM_024091.4(FASTKD3):c.647G>T (p.Arg216Leu)	FASTKD3, MTRR (R216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092992	NM_024091.4(FASTKD3):c.632G>T (p.Gly211Val)	FASTKD3, MTRR (G211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511399	NM_024091.4(FASTKD3):c.629A>G (p.Lys210Arg)	FASTKD3, MTRR (K210R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397179	NM_024091.4(FASTKD3):c.620G>T (p.Arg207Leu)	FASTKD3, MTRR (R207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353813	NM_024091.4(FASTKD3):c.526A>G (p.Thr176Ala)	FASTKD3, MTRR (T176A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301928	NM_024091.4(FASTKD3):c.442G>A (p.Gly148Arg)	FASTKD3, MTRR (G148R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605533	NM_024091.4(FASTKD3):c.352T>C (p.Phe118Leu)	FASTKD3, MTRR (F118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408551	NM_024091.4(FASTKD3):c.335C>T (p.Ser112Leu)	FASTKD3, MTRR (S112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278937	NM_024091.4(FASTKD3):c.256G>T (p.Asp86Tyr)	FASTKD3, MTRR (D86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092990	NM_024091.4(FASTKD3):c.224C>T (p.Pro75Leu)	FASTKD3, MTRR (P75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277760	NM_024091.4(FASTKD3):c.173A>T (p.His58Leu)	FASTKD3, MTRR (H58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277756	NM_024091.4(FASTKD3):c.119G>A (p.Arg40His)	FASTKD3, MTRR (R40H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3277759	NM_024091.4(FASTKD3):c.85C>A (p.Pro29Thr)	FASTKD3, MTRR (P29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700715	NC_000005.10:g.7869040G>A	MTRR	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 354339	NM_002454.2(MTRR):c.-135A>C	LOC129993631, MTRR	Single nucleotide variant (genic upstream transcript variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 138303	NM_002454.2(MTRR):c.-119T>C	LOC129993631, MTRR	Single nucleotide variant (genic upstream transcript variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign
Select item 3058082	NM_002454.3(MTRR):c.-45G>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	MTRR-related disorder	GLikely benign
Select item 906884	NM_002454.3(MTRR):c.-41G>C	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 906885	NM_002454.3(MTRR):c.-31G>A	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 906886	NM_002454.3(MTRR):c.-28T>G	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 907875	NM_002454.3(MTRR):c.-26G>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 508943	NM_002454.3(MTRR):c.-26+6C>G	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507091	NM_002454.3(MTRR):c.-26+8G>C	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 354340	NM_002454.3(MTRR):c.-26+11T>G	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 354341	NM_002454.3(MTRR):c.-26+14C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1291445	NM_002454.3(MTRR):c.-26+129del	LOC129993631, MTRR	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1272657	NM_002454.3(MTRR):c.-26+250C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220005	NM_002454.3(MTRR):c.-26+263C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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