7713[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 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	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 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 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 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 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 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	AHRR, BRD9 +172 more	Copy number gain	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 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 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 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 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 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 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 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 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 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 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 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	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 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 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 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	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 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 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 148401	GRCh38/hg38 5p15.33(chr5:1495239-2191346)x3	CTD-2194D22.4, IRX4 +37 more	Copy number gain	See cases	GUncertain significance
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 148985	GRCh38/hg38 5p15.33(chr5:1719148-2258986)x3	LOC123493261, LOC124901163 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1278703	NC_000005.10:g.1801063G>T	MRPL36, NDUFS6	Single nucleotide variant	not provided	GBenign
Select item 1248764	NC_000005.10:g.1801312G>C	MRPL36, NDUFS6	Single nucleotide variant	not provided	GBenign
Select item 1266183	NC_000005.10:g.1801313_1801314insG	MRPL36, NDUFS6	Insertion	not provided	GBenign
Select item 1253294	NC_000005.10:g.1801318A>G	MRPL36, NDUFS6	Single nucleotide variant	not provided	GBenign
Select item 389200	NM_004553.3(NDUFS6):c.-46A>G	NDUFS6, MRPL36	Single nucleotide variant (genic upstream transcript variant)	not specified	GLikely benign
Select item 138493	NM_004553.4(NDUFS6):c.-12C>T	MRPL36, NDUFS6	Single nucleotide variant (genic upstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 3046895	NM_004553.6(NDUFS6):c.-1A>G	MRPL36, NDUFS6	Single nucleotide variant (5 prime UTR variant)	NDUFS6-related disorder	GLikely benign
Select item 983422	NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg)	MRPL36, NDUFS6 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 211582	NM_004553.6(NDUFS6):c.4G>A (p.Ala2Thr)	MRPL36, NDUFS6 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1545864	NM_004553.6(NDUFS6):c.6G>A (p.Ala2=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095230	NM_004553.6(NDUFS6):c.6G>C (p.Ala2=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790577	NM_004553.6(NDUFS6):c.9G>C (p.Ala3=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727213	NM_004553.6(NDUFS6):c.9G>A (p.Ala3=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 904123	NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val)	NDUFS6, MRPL36 (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2141811	NM_004553.6(NDUFS6):c.13A>G (p.Met5Val)	MRPL36, NDUFS6 (M5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153173	NM_004553.6(NDUFS6):c.15G>A (p.Met5Ile)	MRPL36, NDUFS6 (M5I)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +1 more	GConflicting classifications of pathogenicity
Select item 2138880	NM_004553.6(NDUFS6):c.17C>T (p.Thr6Ile)	MRPL36, NDUFS6 (T6I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1087537	NM_004553.6(NDUFS6):c.18C>T (p.Thr6=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528515	NM_004553.6(NDUFS6):c.21C>T (p.Phe7=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 353189	NM_004553.6(NDUFS6):c.24C>T (p.Cys8=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2793891	NM_004553.6(NDUFS6):c.25C>A (p.Arg9=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214822	NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp)	NDUFS6 (R9W)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2140432	NM_004553.6(NDUFS6):c.26G>C (p.Arg9Pro)	NDUFS6 (R9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 353190	NM_004553.6(NDUFS6):c.27G>C (p.Arg9=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730823	NM_004553.6(NDUFS6):c.28C>T (p.Leu10=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444648	NM_004553.6(NDUFS6):c.29T>G (p.Leu10Arg)	NDUFS6 (L10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997880	NM_004553.6(NDUFS6):c.30G>T (p.Leu10=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676852	NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter)	NDUFS6 (N12*)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 795425	NM_004553.6(NDUFS6):c.31C>T (p.Leu11=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726873	NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)	NDUFS6 (L11V)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1138891	NM_004553.6(NDUFS6):c.33G>A (p.Leu11=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133274	NM_004553.6(NDUFS6):c.36C>T (p.Asn12=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1159019	NM_004553.6(NDUFS6):c.39G>C (p.Arg13=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1145204	NM_004553.6(NDUFS6):c.39G>A (p.Arg13=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003465	NM_004553.6(NDUFS6):c.42T>C (p.Cys14=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1081257	NM_004553.6(NDUFS6):c.45C>G (p.Gly15=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451220	NM_004553.6(NDUFS6):c.46G>T (p.Glu16Ter)	NDUFS6 (E16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1946907	NM_004553.6(NDUFS6):c.50C>G (p.Ala17Gly)	NDUFS6 (A17G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738822	NM_004553.6(NDUFS6):c.51G>T (p.Ala17=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516385	NM_004553.6(NDUFS6):c.51G>A (p.Ala17=)	NDUFS6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2846883	NM_004553.6(NDUFS6):c.53_56del (p.Ala18fs)	NDUFS6 (A18fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2202065	NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val)	NDUFS6 (A18V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1962866	NM_004553.6(NDUFS6):c.54G>A (p.Ala18=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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