"PreventionGenetics, part of Exact Sciences"[submitter] AND "HMCN1"[ge - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049422	NM_031935.3(HMCN1):c.-4_-3del	HMCN1	Deletion (5 prime UTR variant)	HMCN1-related disorder	GLikely benign
Select item 731788	NM_031935.3(HMCN1):c.36G>C (p.Leu12=)	HMCN1	Single nucleotide variant (synonymous variant)	Age related macular degeneration 1 +2 more	GBenign/Likely benign
Select item 745026	NM_031935.3(HMCN1):c.369T>C (p.Ile123=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +1 more	GBenign
Select item 1430091	NM_031935.3(HMCN1):c.437G>A (p.Arg146Gln)	HMCN1 (R146Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3050796	NM_031935.3(HMCN1):c.499-8A>G	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder	GLikely benign
Select item 2079004	NM_031935.3(HMCN1):c.698T>C (p.Val233Ala)	HMCN1 (V233A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 294101	NM_031935.3(HMCN1):c.861G>A (p.Val287=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +2 more	GBenign/Likely benign
Select item 1624067	NM_031935.3(HMCN1):c.1224T>C (p.Tyr408=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2169825	NM_031935.3(HMCN1):c.1402G>A (p.Val468Ile)	HMCN1 (V468I)	Single nucleotide variant (missense variant)	HMCN1-related disorder +1 more	GBenign
Select item 294109	NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys)	HMCN1 (E494K)	Single nucleotide variant (missense variant)	HMCN1-related disorder +2 more	GLikely benign
Select item 2416869	NM_031935.3(HMCN1):c.1553-7C>G	HMCN1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2636769	NM_031935.3(HMCN1):c.1852C>T (p.Pro618Ser)	HMCN1 (P618S)	Single nucleotide variant (missense variant)	HMCN1-related disorder	GUncertain significance
Select item 1988142	NM_031935.3(HMCN1):c.2099-4dup	HMCN1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1599557	NM_031935.3(HMCN1):c.2778G>A (p.Lys926=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1674170	NM_031935.3(HMCN1):c.2916T>G (p.Thr972=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1635669	NM_031935.3(HMCN1):c.2935+4AG[3]	HMCN1	Microsatellite (intron variant)	HMCN1-related disorder +1 more	GBenign
Select item 1590473	NM_031935.3(HMCN1):c.2978T>C (p.Ile993Thr)	HMCN1 (I993T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1622321	NM_031935.3(HMCN1):c.3366G>A (p.Pro1122=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +1 more	GLikely benign
Select item 721001	NM_031935.3(HMCN1):c.3434G>A (p.Ser1145Asn)	HMCN1 (S1145N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1591145	NM_031935.3(HMCN1):c.3549A>T (p.Gln1183His)	HMCN1 (Q1183H)	Single nucleotide variant (missense variant)	HMCN1-related disorder +1 more	GBenign
Select item 294137	NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met)	HMCN1 (T1255M)	Single nucleotide variant (missense variant)	HMCN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 876516	NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe)	HMCN1 (I1337F)	Single nucleotide variant (missense variant)	HMCN1-related disorder +2 more	GBenign/Likely benign
Select item 2021132	NM_031935.3(HMCN1):c.4070-10C>G	HMCN1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1532476	NM_031935.3(HMCN1):c.4506A>G (p.Glu1502=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2169826	NM_031935.3(HMCN1):c.4630+8C>T	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder +1 more	GBenign
Select item 875555	NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 775631	NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1409026	NM_031935.3(HMCN1):c.5325T>A (p.Ile1775=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +1 more	GLikely benign
Select item 2629879	NM_031935.3(HMCN1):c.5578T>C (p.Trp1860Arg)	HMCN1 (W1860R)	Single nucleotide variant (missense variant)	HMCN1-related disorder	GUncertain significance
Select item 294162	NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=)	HMCN1	Single nucleotide variant (synonymous variant)	Age related macular degeneration 1 +2 more	GConflicting classifications of pathogenicity
Select item 2181801	NM_031935.3(HMCN1):c.6969A>G (p.Thr2323=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3043836	NM_031935.3(HMCN1):c.7427-23TTG[4]	HMCN1	Microsatellite (intron variant)	HMCN1-related disorder	GLikely benign
Select item 294190	NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser)	HMCN1 (L2551S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 294193	NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=)	HMCN1	Single nucleotide variant (synonymous variant)	Age related macular degeneration 1 +2 more	GBenign
Select item 1595797	NM_031935.3(HMCN1):c.8220C>T (p.Thr2740=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +1 more	GLikely benign
Select item 294196	NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1902392	NM_031935.3(HMCN1):c.8291-10T>G	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1570410	NM_031935.3(HMCN1):c.9003T>C (p.Asn3001=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1561772	NM_031935.3(HMCN1):c.9392G>A (p.Arg3131Lys)	HMCN1 (R3131K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 100600	NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val)	HMCN1 (I3133V)	Single nucleotide variant (missense variant)	HMCN1-related disorder +2 more	GBenign
Select item 3049598	NM_031935.3(HMCN1):c.9446-30TTTG[6]	HMCN1	Microsatellite (intron variant)	HMCN1-related disorder	GLikely benign
Select item 3057675	NM_031935.3(HMCN1):c.9510A>G (p.Thr3170=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder	GLikely benign
Select item 1899030	NM_031935.3(HMCN1):c.9519T>C (p.Cys3173=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +1 more	GLikely benign
Select item 294212	NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu)	HMCN1 (D3174E)	Single nucleotide variant (missense variant)	HMCN1-related disorder +2 more	GLikely benign
Select item 1542311	NM_031935.3(HMCN1):c.9602G>A (p.Arg3201His)	HMCN1 (R3201H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1438520	NM_031935.3(HMCN1):c.9887+4T>G	HMCN1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294216	NM_031935.3(HMCN1):c.9888-5C>T	HMCN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 294218	NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1557935	NM_031935.3(HMCN1):c.10064T>C (p.Leu3355Ser)	HMCN1 (L3355S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2167451	NM_031935.3(HMCN1):c.10140A>G (p.Gly3380=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1515329	NM_031935.3(HMCN1):c.10532A>G (p.Glu3511Gly)	HMCN1 (E3511G)	Single nucleotide variant (missense variant)	HMCN1-related disorder +1 more	GLikely benign
Select item 790495	NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)	HMCN1 (V3540I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2071894	NM_031935.3(HMCN1):c.10661G>T (p.Gly3554Val)	HMCN1 (G3554V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 294224	NM_031935.3(HMCN1):c.10989+5A>G	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder +2 more	GBenign
Select item 1570013	NM_031935.3(HMCN1):c.11276+7A>G	HMCN1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 874869	NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val)	HMCN1 (I3935V)	Single nucleotide variant (missense variant)	HMCN1-related disorder +2 more	GBenign/Likely benign
Select item 1528248	NM_031935.3(HMCN1):c.11849-10dup	HMCN1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 294242	NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser)	HMCN1 (N4027S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GConflicting classifications of pathogenicity
Select item 1930146	NM_031935.3(HMCN1):c.12537G>A (p.Thr4179=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +1 more	GLikely benign
Select item 2062841	NM_031935.3(HMCN1):c.12654T>C (p.Ala4218=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1599942	NM_031935.3(HMCN1):c.12691-12_12691-9del	HMCN1	Deletion (intron variant)	HMCN1-related disorder +1 more	GBenign/Likely benign
Select item 1406159	NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile)	HMCN1 (T4249I)	Single nucleotide variant (missense variant)	HMCN1-related disorder +3 more	GUncertain significance
Select item 294251	NM_031935.3(HMCN1):c.12771T>C (p.His4257=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 294261	NM_031935.3(HMCN1):c.13231-4A>G	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder +2 more	GLikely benign
Select item 294263	NM_031935.3(HMCN1):c.13313-5C>T	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder +2 more	GBenign/Likely benign
Select item 294264	NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn)	HMCN1 (S4438N)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 781930	NM_031935.3(HMCN1):c.13462G>A (p.Val4488Met)	HMCN1 (V4488M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3052498	NM_031935.3(HMCN1):c.13677C>T (p.Pro4559=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder	GLikely benign
Select item 1635475	NM_031935.3(HMCN1):c.14547T>C (p.Gly4849=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related disorder +1 more	GLikely benign
Select item 875905	NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn)	HMCN1 (T4913N)	Single nucleotide variant (missense variant)	HMCN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1911429	NM_031935.3(HMCN1):c.14742T>C (p.Asn4914=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 294283	NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2198446	NM_031935.3(HMCN1):c.15126C>T (p.Thr5042=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1413259	NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg)	HMCN1 (I5071R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 294285	NM_031935.3(HMCN1):c.15256+4A>T	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder +2 more	GBenign/Likely benign
Select item 875037	NM_031935.3(HMCN1):c.15440-9C>T	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1582084	NM_031935.3(HMCN1):c.15527G>A (p.Arg5176His)	HMCN1 (R5176H)	Single nucleotide variant (missense variant)	HMCN1-related disorder +1 more	GLikely benign
Select item 3054885	NM_031935.3(HMCN1):c.15574+9A>T	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder	GLikely benign
Select item 3054157	NM_031935.3(HMCN1):c.15574+10T>A	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related disorder	GLikely benign
Select item 294310	NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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Items: 80