51116[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 1184427	NM_016034.5(MRPS2):c.14C>T (p.Ser5Leu)	MRPS2 (S5L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2392912	NM_016034.5(MRPS2):c.25C>T (p.Pro9Ser)	MRPS2 (P9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213912	NM_016034.5(MRPS2):c.25C>A (p.Pro9Thr)	MRPS2 (P9T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296090	NM_016034.5(MRPS2):c.31A>G (p.Ile11Val)	MRPS2 (I11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2981755	NM_016034.5(MRPS2):c.43+4_43+7del	MRPS2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2760177	NM_016034.5(MRPS2):c.44-11C>G	MRPS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1542228	NM_016034.5(MRPS2):c.44-8C>A	MRPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705527	NM_016034.5(MRPS2):c.46G>A (p.Ala16Thr)	MRPS2 (A16T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895865	NM_016034.5(MRPS2):c.65G>A (p.Trp22Ter)	MRPS2 (W22*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2197872	NM_016034.5(MRPS2):c.71G>A (p.Gly24Asp)	MRPS2 (G24D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2961281	NM_016034.5(MRPS2):c.72C>G (p.Gly24=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1601052	NM_016034.5(MRPS2):c.89C>A (p.Thr30Asn)	MRPS2 (T30N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2958337	NM_016034.5(MRPS2):c.93C>T (p.Pro31=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1904461	NM_016034.5(MRPS2):c.96G>A (p.Arg32=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2457355	NM_016034.5(MRPS2):c.104G>T (p.Arg35Leu)	MRPS2 (R35L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622754	NM_016034.5(MRPS2):c.112C>G (p.Arg38Gly)	MRPS2 (R38G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2457491	NM_016034.5(MRPS2):c.140T>A (p.Leu47His)	MRPS2 (L47H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1599215	NM_016034.5(MRPS2):c.155C>T (p.Ser52Leu)	MRPS2 (S52L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3051888	NM_016034.5(MRPS2):c.169+9G>A	MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 3041063	NM_016034.5(MRPS2):c.170-4G>A	MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 2027814	NM_016034.5(MRPS2):c.203A>G (p.Lys68Arg)	MRPS2 (K68R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3047417	NM_016034.5(MRPS2):c.204G>A (p.Lys68=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 3296091	NM_016034.5(MRPS2):c.205C>T (p.His69Tyr)	MRPS2 (H69Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671727	NM_016034.5(MRPS2):c.223G>A (p.Val75Ile)	MRPS2 (V75I)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 1722795	NM_016034.5(MRPS2):c.236T>A (p.Phe79Tyr)	MRPS2 (F79Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3055007	NM_016034.5(MRPS2):c.299+7G>A	MRPS2	Single nucleotide variant (intron variant)	MRPS2-related disorder	GLikely benign
Select item 1930226	NM_016034.5(MRPS2):c.299+16A>C	MRPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2053237	NM_016034.5(MRPS2):c.299+20G>A	MRPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319745	NM_016034.5(MRPS2):c.299+95G>C	MRPS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3052588	NM_016034.5(MRPS2):c.300-9C>T	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 2429260	NM_016034.5(MRPS2):c.300-2A>G	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GLikely pathogenic
Select item 2361883	NM_016034.5(MRPS2):c.311C>T (p.Pro104Leu)	LOC101928525, MRPS2 (P104L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2710238	NM_016034.5(MRPS2):c.312G>A (p.Pro104=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 523223	NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys)	LOC101928525, MRPS2 (R110C)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GPathogenic
Select item 3036546	NM_016034.5(MRPS2):c.329G>A (p.Arg110His)	LOC101928525, MRPS2 (R110H)	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 2043893	NM_016034.5(MRPS2):c.335A>G (p.Asp112Gly)	LOC101928525, MRPS2 (D112G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 523224	NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn)	MRPS2, LOC101928525 (D114N)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36 +1 more	GConflicting classifications of pathogenicity
Select item 2144770	NM_016034.5(MRPS2):c.369G>A (p.Thr123=)	MRPS2, LOC101928525	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1945681	NM_016034.5(MRPS2):c.375C>G (p.Leu125=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1029572	NM_016034.5(MRPS2):c.400C>T (p.His134Tyr)	LOC101928525, MRPS2 (H134Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 523225	NM_016034.5(MRPS2):c.413G>A (p.Arg138His)	LOC101928525, MRPS2 (R138H)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GConflicting classifications of pathogenicity
Select item 2046941	NM_016034.5(MRPS2):c.420C>T (p.Gly140=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2277004	NM_016034.5(MRPS2):c.440G>A (p.Arg147His)	LOC101928525, MRPS2 (R147H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2056694	NM_016034.5(MRPS2):c.456G>A (p.Ser152=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2059751	NM_016034.5(MRPS2):c.471C>T (p.Asn157=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2043677	NM_016034.5(MRPS2):c.472A>G (p.Met158Val)	LOC101928525, MRPS2 (M158V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2513970	NM_016034.5(MRPS2):c.478C>T (p.Arg160Cys)	LOC101928525, MRPS2 (R160C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1589986	NM_016034.5(MRPS2):c.479G>A (p.Arg160His)	LOC101928525, MRPS2 (R160H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2504597	NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)	LOC101928525, MRPS2 (E164K)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 3045063	NM_016034.5(MRPS2):c.495C>T (p.Tyr165=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 2150540	NM_016034.5(MRPS2):c.496G>A (p.Ala166Thr)	LOC101928525, MRPS2 (A166T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3208955	NM_016034.5(MRPS2):c.505C>T (p.Arg169Cys)	LOC101928525, MRPS2 (R169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393394	NM_016034.5(MRPS2):c.535G>A (p.Ala179Thr)	LOC101928525, MRPS2 (A179T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1537898	NM_016034.5(MRPS2):c.536C>T (p.Ala179Val)	LOC101928525, MRPS2 (A179V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1722796	NM_016034.5(MRPS2):c.538C>T (p.Arg180Cys)	LOC101928525, MRPS2 (R180C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3296089	NM_016034.5(MRPS2):c.539G>A (p.Arg180His)	LOC101928525, MRPS2 (R180H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208962	NM_016034.5(MRPS2):c.554C>A (p.Pro185His)	LOC101928525, MRPS2 (P185H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1988669	NM_016034.5(MRPS2):c.558G>C (p.Thr186=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187212	NM_016034.5(MRPS2):c.563G>A (p.Arg188His)	LOC101928525, MRPS2 (R188H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992803	NM_016034.5(MRPS2):c.569C>T (p.Pro190Leu)	MRPS2, LOC101928525 (P190L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1600054	NM_016034.5(MRPS2):c.570G>A (p.Pro190=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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