(1[CHR] AND 1:11267747[chrpos37] AND 11102837:2000000000[chrpos37]) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 57720	GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3	ANGPTL7, C1orf127 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 291791	NM_006610.4(MASP2):c.882G>A (p.Thr294=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 729733	NM_006610.4(MASP2):c.881C>T (p.Thr294Met)	MASP2 (T294M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2491464	NM_006610.4(MASP2):c.876C>G (p.His292Gln)	MASP2 (H292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291792	NM_006610.4(MASP2):c.828C>G (p.Ile276Met)	MASP2 (I276M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291793	NM_006610.4(MASP2):c.808A>C (p.Lys270Gln)	MASP2 (K270Q)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2301618	NM_006610.4(MASP2):c.767G>A (p.Gly256Asp)	MASP2 (G256D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291794	NM_006610.4(MASP2):c.742-12C>T	MASP2	Single nucleotide variant (intron variant)	Immunodeficiency due to MASP-2 deficiency	GLikely benign
Select item 1696493	NM_006610.4(MASP2):c.741+1G>T	MASP2	Single nucleotide variant (splice donor variant)	Immunodeficiency due to MASP-2 deficiency	GLikely pathogenic
Select item 291795	NM_006610.4(MASP2):c.729C>T (p.Tyr243=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 3123758	NM_006610.4(MASP2):c.718C>A (p.Leu240Met)	MASP2 (L240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291796	NM_006610.4(MASP2):c.661T>C (p.Phe221Leu)	MASP2 (F221L)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876782	NM_006610.4(MASP2):c.626C>T (p.Ser209Phe)	MASP2 (S209F)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2265545	NM_006610.4(MASP2):c.616C>A (p.Pro206Thr)	MASP2 (P206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291798	NM_006610.4(MASP2):c.612G>A (p.Pro204=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 291797	NM_006610.4(MASP2):c.612G>T (p.Pro204=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291799	NM_006610.4(MASP2):c.555C>T (p.Ser185=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 440977	NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr)	MASP2 (C184Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2368308	NM_006610.4(MASP2):c.533G>A (p.Arg178His)	MASP2 (R178H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3293377	NM_006610.4(MASP2):c.532C>A (p.Arg178Ser)	MASP2 (R178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123756	NM_006610.4(MASP2):c.508G>A (p.Gly170Ser)	MASP2 (G170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291800	NM_006610.4(MASP2):c.507A>G (p.Ala169=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 1032465	NM_006610.4(MASP2):c.503G>A (p.Arg168His)	MASP2 (R168H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291801	NM_006610.4(MASP2):c.470A>G (p.His157Arg)	MASP2 (H157R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 291802	NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr)	MASP2 (C156Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 873963	NM_006610.4(MASP2):c.464A>G (p.His155Arg)	MASP2 (H155R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GBenign
Select item 873964	NM_006610.4(MASP2):c.446C>T (p.Ala149Val)	MASP2 (A149V)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 873965	NM_006610.4(MASP2):c.437C>T (p.Pro146Leu)	MASP2 (P146L)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2320486	NM_006610.4(MASP2):c.431T>C (p.Val144Ala)	MASP2 (V144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291803	NM_006610.4(MASP2):c.420C>T (p.Asp140=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2617382	NM_006610.4(MASP2):c.414C>A (p.Asp138Glu)	MASP2 (D138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 632078	NM_006610.4(MASP2):c.412+1G>A	MASP2	Single nucleotide variant (splice donor variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874901	NM_006610.4(MASP2):c.408C>T (p.Ala136=)	MASP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 291804	NM_006610.4(MASP2):c.395C>T (p.Ala132Val)	MASP2 (A132V)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291805	NM_006610.4(MASP2):c.384G>A (p.Thr128=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291806	NM_006610.4(MASP2):c.383C>T (p.Thr128Met)	MASP2 (T128M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 3123755	NM_006610.4(MASP2):c.382A>G (p.Thr128Ala)	MASP2 (T128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291807	NM_006610.4(MASP2):c.377C>T (p.Pro126Leu)	MASP2 (P126L)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 708053	NM_006610.4(MASP2):c.370G>A (p.Glu124Lys)	MASP2 (E124K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3123754	NM_006610.4(MASP2):c.369C>A (p.Asn123Lys)	MASP2 (N123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5210	NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	MASP2 (D120G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3052063	NM_006610.4(MASP2):c.357C>T (p.Ser119=)	MASP2	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 874902	NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)	MASP2 (R118C)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 291808	NM_006610.4(MASP2):c.296G>A (p.Arg99Gln)	MASP2 (R99Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 874903	NM_006610.4(MASP2):c.277G>C (p.Glu93Gln)	MASP2 (E93Q)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 992550	NM_006610.4(MASP2):c.263C>T (p.Thr88Met)	MASP2 (T88M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 631561	NM_006610.4(MASP2):c.242C>A (p.Ser81Ter)	MASP2 (S81*)	Single nucleotide variant (nonsense)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 291809	NM_006610.4(MASP2):c.234+13C>T	MASP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 291810	NM_006610.4(MASP2):c.234+6G>A	MASP2	Single nucleotide variant (intron variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291811	NM_006610.4(MASP2):c.231C>T (p.Val77=)	MASP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875837	NM_006610.4(MASP2):c.229G>A (p.Val77Ile)	MASP2 (V77I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2213064	NM_006610.4(MASP2):c.223G>C (p.Asp75His)	MASP2 (D75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 875838	NM_006610.4(MASP2):c.223G>A (p.Asp75Asn)	MASP2 (D75N)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2517157	NM_006610.4(MASP2):c.179A>G (p.Tyr60Cys)	MASP2 (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 875839	NM_006610.4(MASP2):c.172C>T (p.Arg58Cys)	MASP2 (R58C)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291812	NM_006610.4(MASP2):c.159C>T (p.Pro53=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875840	NM_006610.4(MASP2):c.154C>T (p.Pro52Ser)	MASP2 (P52S)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2400438	NM_006610.4(MASP2):c.139T>C (p.Trp47Arg)	MASP2 (W47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 875841	NM_006610.4(MASP2):c.100G>A (p.Gly34Ser)	MASP2 (G34S)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876829	NM_006610.4(MASP2):c.99C>T (p.Pro33=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GLikely benign
Select item 291813	NM_006610.4(MASP2):c.93A>T (p.Ala31=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876830	NM_006610.4(MASP2):c.86G>A (p.Arg29His)	MASP2 (R29H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 3123759	NM_006610.4(MASP2):c.82G>A (p.Gly28Arg)	MASP2 (G28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291814	NM_006610.4(MASP2):c.81C>T (p.Phe27=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876831	NM_006610.4(MASP2):c.60G>A (p.Pro20=)	MASP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2638216	NM_006610.4(MASP2):c.39G>A (p.Ser13=)	MASP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716795	NM_006610.4(MASP2):c.38C>T (p.Ser13Leu)	MASP2 (S13L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786449	NM_006610.4(MASP2):c.33T>C (p.Cys11=)	MASP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2621543	NM_006610.4(MASP2):c.25C>T (p.Leu9Phe)	MASP2 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353092	NM_006610.4(MASP2):c.5+10C>T	MASP2	Single nucleotide variant (intron variant)	MASP2-related disorder	GLikely benign
Select item 2479369	NM_003132.3(SRM):c.898G>T (p.Asp300Tyr)	SRM (D300Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170003	NM_003132.3(SRM):c.844G>A (p.Asp282Asn)	SRM (D282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232079	NM_003132.3(SRM):c.781G>A (p.Glu261Lys)	SRM (E261K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301517	NM_003132.3(SRM):c.779A>G (p.Gln260Arg)	SRM (Q260R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170002	NM_003132.3(SRM):c.593A>G (p.Lys198Arg)	SRM (K198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275224	NM_003132.3(SRM):c.368G>A (p.Cys123Tyr)	SRM (C123Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170001	NM_003132.3(SRM):c.44C>T (p.Ala15Val)	SRM (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303956	NM_003132.3(SRM):c.38C>T (p.Pro13Leu)	SRM (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383402	NM_001001998.3(EXOSC10):c.2642A>G (p.Asn881Ser)	EXOSC10 (N856S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276822	NM_001001998.3(EXOSC10):c.2614G>A (p.Gly872Arg)	EXOSC10 (G847R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091188	NM_001001998.3(EXOSC10):c.2596A>G (p.Ser866Gly)	EXOSC10 (S866G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621773	NM_001001998.3(EXOSC10):c.2593A>C (p.Lys865Gln)	EXOSC10 (K840Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269349	NM_001001998.3(EXOSC10):c.2555G>A (p.Cys852Tyr)	EXOSC10 (C852Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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