5340[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	LOC126859863, LOC126859864 +270 more	Copy number loss	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	LOC129997603, LOC129997604 +115 more	Copy number gain	See cases	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	LOC113174973, LOC116183078 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	LOC129997712, LOC129997713 +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	LOC129997709, LOC129997710 +297 more	Copy number loss	See cases	GPathogenic
Select item 1237325	NC_000006.12:g.160701899G>A	PLG	Single nucleotide variant	not provided	GBenign
Select item 1237284	NC_000006.12:g.160702126G>T	PLG	Single nucleotide variant	not provided	GBenign
Select item 1230328	NC_000006.12:g.160702153T>C	PLG	Single nucleotide variant	not provided	GBenign
Select item 1248531	NM_000301.5(PLG):c.-35G>A	PLG	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 738242	NM_000301.5(PLG):c.12G>A (p.Lys4=)	PLG	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1986041	NM_000301.5(PLG):c.16G>A (p.Val6Met)	PLG (V6M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1693937	NM_000301.5(PLG):c.17T>C (p.Val6Ala)	PLG (V6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 783759	NM_000301.5(PLG):c.36A>G (p.Leu12=)	PLG	Single nucleotide variant (synonymous variant)	Plasminogen deficiency, type I +2 more	GLikely benign
Select item 2694114	NM_000301.5(PLG):c.40C>G (p.Leu14Val)	PLG (L14V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962887	NM_000301.5(PLG):c.49+7C>G	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990430	NM_000301.5(PLG):c.49+18dup	PLG	Duplication (intron variant)	not provided	GBenign
Select item 1912058	NM_000301.5(PLG):c.49+11G>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842619	NM_000301.5(PLG):c.49+15T>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104345	NM_000301.5(PLG):c.49+18T>C	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252883	NM_000301.5(PLG):c.49+28G>T	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221071	NM_000301.5(PLG):c.49+66T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247104	NM_000301.5(PLG):c.50-314G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989227	NM_000301.5(PLG):c.50-16G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3063641	NM_000301.5(PLG):c.50-4C>G	PLG	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1960075	NM_000301.5(PLG):c.50G>T (p.Gly17Val)	PLG (G17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971393	NM_000301.5(PLG):c.56G>C (p.Gly19Ala)	PLG (G19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786010	NM_000301.5(PLG):c.84C>A (p.Thr28=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684351	NM_000301.5(PLG):c.86A>C (p.Gln29Pro)	PLG (Q29P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13583	NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	PLG (K38E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1162997	NM_000301.5(PLG):c.115A>C (p.Lys39Gln)	PLG (K39Q)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GUncertain significance
Select item 2872482	NM_000301.5(PLG):c.118C>A (p.Gln40Lys)	PLG (Q40K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735376	NM_000301.5(PLG):c.160G>A (p.Glu54Lys)	PLG (E54K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801477	NM_000301.5(PLG):c.164A>G (p.Glu55Gly)	PLG (E55G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967690	NM_000301.5(PLG):c.165G>A (p.Glu55=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421279	NM_000301.5(PLG):c.168C>T (p.Asp56=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776181	NM_000301.5(PLG):c.169G>A (p.Glu57Lys)	PLG (E57K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 282782	NM_000301.5(PLG):c.185+1G>T	PLG	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1992506	NM_000301.5(PLG):c.185+6del	PLG	Deletion (intron variant)	not provided	GUncertain significance
Select item 786738	NM_000301.5(PLG):c.185+4T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1903226	NM_000301.5(PLG):c.185+13T>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913120	NM_000301.5(PLG):c.185+14C>T	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050571	NM_000301.5(PLG):c.185+14C>A	PLG	Single nucleotide variant (intron variant)	Angioedema, hereditary, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1909431	NM_000301.5(PLG):c.185+15G>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924002	NM_000301.5(PLG):c.185+16T>C	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232881	NM_000301.5(PLG):c.186-115G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 746797	NM_000301.5(PLG):c.186-9G>A	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017807	NM_000301.5(PLG):c.226A>T (p.Met76Leu)	PLG (M76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933659	NM_000301.5(PLG):c.229G>A (p.Ala77Thr)	PLG (A77T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701205	NM_000301.5(PLG):c.264G>A (p.Met88Ile)	PLG (M88I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032300	NM_000301.5(PLG):c.266G>C (p.Arg89Thr)	PLG (R89T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 770931	NM_000301.5(PLG):c.266G>A (p.Arg89Lys)	PLG (R89K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2066196	NM_000301.5(PLG):c.289A>C (p.Lys97Gln)	PLG (K97Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964619	NM_000301.5(PLG):c.292+16TCC[5]	PLG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3008851	NM_000301.5(PLG):c.292+17C>T	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994210	NM_000301.5(PLG):c.292+18C>T	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750188	NM_000301.5(PLG):c.292+19T>G	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242578	NM_000301.5(PLG):c.292+49A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226743	NM_000301.5(PLG):c.292+84A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183318	NM_000301.5(PLG):c.292+107T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180987	NM_000301.5(PLG):c.292+109G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268764	NM_000301.5(PLG):c.292+129G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222577	NM_000301.5(PLG):c.292+175G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182014	NM_000301.5(PLG):c.293-291C>T	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1162998	NM_000301.5(PLG):c.293-14G>A	PLG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2734963	NM_000301.5(PLG):c.293-2A>G	PLG	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2719862	NM_000301.5(PLG):c.313A>G (p.Thr105Ala)	PLG (T105A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1162999	NM_000301.5(PLG):c.316G>T (p.Gly106Trp)	PLG (G106W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346118	NM_000301.5(PLG):c.317G>C (p.Gly106Ala)	PLG (G106A)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +3 more	GUncertain significance
Select item 2094259	NM_000301.5(PLG):c.318G>A (p.Gly106=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1242787	NM_000301.5(PLG):c.330C>T (p.Asn110=)	PLG	Single nucleotide variant (synonymous variant)	Angioedema, hereditary, 4 +2 more	GBenign
Select item 2726201	NM_000301.5(PLG):c.341C>T (p.Thr114Met)	PLG (T114M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911574	NM_000301.5(PLG):c.342G>T (p.Thr114=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866521	NM_000301.5(PLG):c.357A>T (p.Lys119Asn)	PLG (K119N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2022054	NM_000301.5(PLG):c.368C>A (p.Thr123Asn)	PLG (T123N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163000	NM_000301.5(PLG):c.368C>T (p.Thr123Ile)	PLG (T123I)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GUncertain significance
Select item 2155961	NM_000301.5(PLG):c.399C>A (p.His133Gln)	PLG (H133Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3013882	NM_000301.5(PLG):c.403C>T (p.Pro135Ser)	PLG (P135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043135	NM_000301.5(PLG):c.405T>G (p.Pro135=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958002	NM_000301.5(PLG):c.405T>C (p.Pro135=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1289621	NM_000301.5(PLG):c.407+194T>G	PLG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1256795	NM_000301.5(PLG):c.408-333A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2018758	NM_000301.5(PLG):c.408-18C>T	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956937	NM_000301.5(PLG):c.408-4C>T	PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698023	NM_000301.5(PLG):c.416_424del (p.Pro139_Thr141del)	PLG	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2657118	NM_000301.5(PLG):c.413C>A (p.Ser138Ter)	PLG (S138*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3021589	NM_000301.5(PLG):c.417T>C (p.Pro139=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988133	NM_000301.5(PLG):c.422C>T (p.Thr141Ile)	PLG (T141I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873893	NM_000301.5(PLG):c.426C>G (p.His142Gln)	PLG (H142Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163001	NM_000301.5(PLG):c.426C>A (p.His142Gln)	PLG (H142Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483323	NM_000301.5(PLG):c.427C>T (p.Pro143Ser)	PLG (P143S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961313	NM_000301.5(PLG):c.428C>G (p.Pro143Arg)	PLG (P143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435084	NM_000301.5(PLG):c.435G>T (p.Glu145Asp)	PLG (E145D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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