6902[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
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 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
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 873851	NM_007375.4(TARDBP):c.*2123T>C	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 291763	NM_007375.4(TARDBP):c.2294_2295insGTTTT	MASP2, TARDBP	Insertion (3 prime UTR variant)	Frontotemporal dementia +2 more	GBenign
Select item 291764	NM_007375.4(TARDBP):c.*2331A>G	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia +3 more	GBenign/Likely benign
Select item 875739	NM_006610.4(MASP2):c.*311T>C	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875740	NM_006610.4(MASP2):c.*282C>A	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291772	NM_006610.4(MASP2):c.*225T>C	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency +3 more	GBenign
Select item 875741	NM_006610.4(MASP2):c.*220A>G	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291773	NM_006610.4(MASP2):c.*219C>T	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876731	NM_006610.4(MASP2):c.*212A>G	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291774	NM_006610.4(MASP2):c.*189G>A	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 368798	NM_006610.4(MASP2):c.*184C>T	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +2 more	GLikely benign
Select item 291775	NM_006610.4(MASP2):c.*171A>C	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291776	NM_006610.4(MASP2):c.*111C>T	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876732	NM_006610.4(MASP2):c.*64C>T	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 3123753	NM_006610.4(MASP2):c.2053G>A (p.Asp685Asn)	MASP2, TARDBP (D685N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220651	NM_006610.4(MASP2):c.2011A>C (p.Lys671Gln)	MASP2, TARDBP (K671Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 876733	NM_006610.4(MASP2):c.1972A>G (p.Met658Val)	MASP2, TARDBP (M658V)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 3293379	NM_006610.4(MASP2):c.1958T>C (p.Val653Ala)	MASP2, TARDBP (V653A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638215	NM_006610.4(MASP2):c.1947G>T (p.Val649=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3123751	NM_006610.4(MASP2):c.1946T>C (p.Val649Ala)	MASP2, TARDBP (V649A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286297	NM_006610.4(MASP2):c.1923T>G (p.Asp641Glu)	MASP2, TARDBP (D641E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689402	NM_006610.4(MASP2):c.1903G>A (p.Gly635Arg)	MASP2, TARDBP (G635R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 873902	NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser)	MASP2, TARDBP (C629S)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 3293378	NM_006610.4(MASP2):c.1882A>G (p.Ser628Gly)	MASP2, TARDBP (S628G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292226	NM_006610.4(MASP2):c.1864G>A (p.Glu622Lys)	MASP2, TARDBP (E622K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036600	NM_006610.4(MASP2):c.1857T>G (p.Ala619=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 2337204	NM_006610.4(MASP2):c.1853G>C (p.Cys618Ser)	MASP2, TARDBP (C618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058189	NM_006610.4(MASP2):c.1827G>A (p.Arg609=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 2304116	NM_006610.4(MASP2):c.1798G>A (p.Ala600Thr)	MASP2, TARDBP (A600T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355910	NM_006610.4(MASP2):c.1796C>T (p.Thr599Ile)	MASP2, TARDBP (T599I)	Single nucleotide variant (missense variant)	MASP2-related disorder	GLikely benign
Select item 2621497	NM_006610.4(MASP2):c.1780G>C (p.Asp594His)	MASP2, TARDBP (D594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025596	NM_006610.4(MASP2):c.1773G>A (p.Pro591=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 291777	NM_006610.4(MASP2):c.1731A>C (p.Gln577His)	MASP2, TARDBP (Q577H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign/Likely benign
Select item 291778	NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile)	MASP2, TARDBP (T576I)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2433647	NM_006610.4(MASP2):c.1719G>C (p.Trp573Cys)	MASP2, TARDBP (W573C)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 2278740	NM_006610.4(MASP2):c.1702G>C (p.Gly568Arg)	MASP2, TARDBP (G568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033229	NM_006610.4(MASP2):c.1689G>A (p.Arg563=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3047483	NM_006610.4(MASP2):c.1647G>A (p.Thr549=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 291779	NM_006610.4(MASP2):c.1617T>C (p.Asn539=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency +3 more	GBenign/Likely benign
Select item 291780	NM_006610.4(MASP2):c.1590C>T (p.Asp530=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2276262	NM_006610.4(MASP2):c.1582G>A (p.Gly528Ser)	MASP2, TARDBP (G528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626137	NM_006610.4(MASP2):c.1574A>G (p.His525Arg)	MASP2, TARDBP (H525R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 1678023	NM_006610.4(MASP2):c.1515_1516dup (p.Ser506fs)	MASP2, TARDBP (S506fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2556816	NM_006610.4(MASP2):c.1514T>C (p.Leu505Pro)	MASP2, TARDBP (L505P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291781	NM_006610.4(MASP2):c.1479C>T (p.Ser493=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 2284591	NM_006610.4(MASP2):c.1474G>A (p.Ala492Thr)	MASP2, TARDBP (A492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 873903	NM_006610.4(MASP2):c.1470T>G (p.His490Gln)	MASP2, TARDBP (H490Q)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 873904	NM_006610.4(MASP2):c.1468C>T (p.His490Tyr)	MASP2, TARDBP (H490Y)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2408091	NM_006610.4(MASP2):c.1453G>A (p.Val485Ile)	MASP2, TARDBP (V485I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275479	NM_006610.4(MASP2):c.1411G>A (p.Ala471Thr)	MASP2, TARDBP (A471T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123750	NM_006610.4(MASP2):c.1391G>A (p.Gly464Asp)	MASP2, TARDBP (G464D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050821	NM_006610.4(MASP2):c.1391G>C (p.Gly464Ala)	MASP2, TARDBP (G464A)	Single nucleotide variant (missense variant)	MASP2-related disorder	GBenign
Select item 3123749	NM_006610.4(MASP2):c.1331G>A (p.Arg444His)	MASP2, TARDBP (R444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291782	NM_006610.4(MASP2):c.1316G>A (p.Arg439His)	MASP2, TARDBP (R439H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign/Likely benign
Select item 3123748	NM_006610.4(MASP2):c.1315C>T (p.Arg439Cys)	MASP2, TARDBP (R439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874848	NM_006610.4(MASP2):c.1314C>T (p.Ala438=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2244463	NM_006610.4(MASP2):c.1309T>C (p.Ser437Pro)	MASP2, TARDBP (S437P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689403	NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs)	MASP2, TARDBP (W418fs)	Indel (frameshift variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 3123746	NM_006610.4(MASP2):c.1256C>T (p.Thr419Met)	MASP2, TARDBP (T419M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291783	NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn)	MASP2, TARDBP (D415N)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 874849	NM_006610.4(MASP2):c.1231G>A (p.Val411Met)	MASP2, TARDBP (V411M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874850	NM_006610.4(MASP2):c.1213G>A (p.Val405Met)	MASP2 (V405M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2552097	NM_006610.4(MASP2):c.1199T>G (p.Phe400Cys)	MASP2 (F400C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874851	NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp)	MASP2 (E397D)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874852	NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr)	MASP2 (C396Y)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291784	NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile)	MASP2 (T381I)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2291183	NM_006610.4(MASP2):c.1138A>C (p.Ile380Leu)	MASP2 (I380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291785	NM_006610.4(MASP2):c.1130T>C (p.Val377Ala)	MASP2 (V377A)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 3123745	NM_006610.4(MASP2):c.1127G>A (p.Arg376Gln)	MASP2 (R376Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1678096	NM_006610.4(MASP2):c.1126C>T (p.Arg376Ter)	MASP2 (R376*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 291786	NM_006610.4(MASP2):c.1111G>T (p.Asp371Tyr)	MASP2 (D371Y)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +2 more	GBenign
Select item 2632022	NM_006610.4(MASP2):c.1087+8_1087+10del	MASP2	Deletion (intron variant)	MASP2-related disorder	GUncertain significance
Select item 3123744	NM_006610.4(MASP2):c.1085G>A (p.Ser362Asn)	MASP2 (S362N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291787	NM_006610.4(MASP2):c.1080G>A (p.Ala360=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 1032464	NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr)	MASP2 (A360T)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291788	NM_006610.4(MASP2):c.1064A>T (p.Asp355Val)	MASP2 (D355V)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GLikely benign
Select item 2527221	NM_006610.4(MASP2):c.1004T>C (p.Leu335Pro)	MASP2 (L335P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 291789	NM_006610.4(MASP2):c.967A>C (p.Ser323Arg)	MASP2 (S323R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2635890	NM_006610.4(MASP2):c.931G>A (p.Val311Ile)	MASP2 (V311I)	Single nucleotide variant (missense variant)	MASP2-related disorder	GUncertain significance
Select item 2389338	NM_006610.4(MASP2):c.895C>T (p.Pro299Ser)	MASP2 (P299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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