Related gene-specific medical variations for Gene (Select 83872) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248020	NC_000001.10:g.(?_186114515)_(186159010_?)dup	HMCN1	Duplication	not provided	GUncertain significance
Select item 2990210	NM_031935.3(HMCN1):c.16415-5C>T	LOC126805953, HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972999	NM_031935.3(HMCN1):c.16478G>A (p.Arg5493Lys)	HMCN1, LOC126805953 (R5493K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919819	NM_031935.3(HMCN1):c.16512A>C (p.Pro5504=)	HMCN1, LOC126805953	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877538	NM_031935.3(HMCN1):c.16440T>A (p.Asn5480Lys)	HMCN1, LOC126805953 (N5480K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850835	NM_031935.3(HMCN1):c.16531C>A (p.Pro5511Thr)	HMCN1, LOC126805953 (P5511T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849955	NM_031935.3(HMCN1):c.16415-17C>T	HMCN1, LOC126805953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787110	NM_031935.3(HMCN1):c.16415-20G>T	HMCN1, LOC126805953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762572	NM_031935.3(HMCN1):c.15001G>A (p.Ala5001Thr)	HMCN1, LOC129388665 (A5001T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762433	NM_031935.3(HMCN1):c.15012T>G (p.Thr5004=)	HMCN1, LOC129388665	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2705422	NM_031935.3(HMCN1):c.16503A>C (p.Thr5501=)	HMCN1, LOC126805953	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470881	NM_031935.3(HMCN1):c.16513C>T (p.Pro5505Ser)	HMCN1, LOC126805953 (P5505S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2119487	NM_031935.3(HMCN1):c.16462A>G (p.Met5488Val)	HMCN1, LOC126805953 (M5488V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091168	NM_031935.3(HMCN1):c.16508G>A (p.Cys5503Tyr)	HMCN1, LOC126805953 (C5503Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061143	NM_031935.3(HMCN1):c.16430_16431del (p.Leu5477fs)	HMCN1, LOC126805953 (L5477fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2035719	NM_031935.3(HMCN1):c.16429C>T (p.Leu5477=)	HMCN1, LOC126805953	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035406	NM_031935.3(HMCN1):c.16442_16443del (p.Val5481fs)	HMCN1, LOC126805953 (V5481fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2006648	NM_031935.3(HMCN1):c.16494dup (p.Ile5499fs)	HMCN1, LOC126805953 (I5499fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2001505	NM_031935.3(HMCN1):c.16499A>G (p.Asp5500Gly)	HMCN1, LOC126805953 (D5500G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988753	NM_031935.3(HMCN1):c.16541+3_16541+4dup	HMCN1, LOC126805953	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1978919	NM_031935.3(HMCN1):c.16415A>T (p.Asp5472Val)	HMCN1, LOC126805953 (D5472V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961513	NM_031935.3(HMCN1):c.16519T>C (p.Tyr5507His)	HMCN1, LOC126805953 (Y5507H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940535	NM_031935.3(HMCN1):c.16474A>T (p.Met5492Leu)	HMCN1, LOC126805953 (M5492L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940374	NM_031935.3(HMCN1):c.16415-8G>A	HMCN1, LOC126805953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921483	NM_031935.3(HMCN1):c.16525C>T (p.Arg5509Trp)	HMCN1, LOC126805953 (R5509W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913662	NM_031935.3(HMCN1):c.16529A>T (p.Asp5510Val)	HMCN1, LOC126805953 (D5510V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1913059	NM_031935.3(HMCN1):c.16431G>A (p.Leu5477=)	HMCN1, LOC126805953	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898154	NM_031935.3(HMCN1):c.15018+12G>A	HMCN1, LOC129388665	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1808498	GRCh37/hg19 1q31.1(chr1:185892764-186021430)x1	HMCN1	Copy number loss	not provided	GUncertain significance
Select item 1659582	NM_031935.3(HMCN1):c.16541+11C>T	HMCN1, LOC126805953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628217	NM_031935.3(HMCN1):c.16541+17C>T	HMCN1, LOC126805953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579295	NM_031935.3(HMCN1):c.16541+19T>A	HMCN1, LOC126805953	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1499743	NM_031935.3(HMCN1):c.16420G>A (p.Asp5474Asn)	HMCN1, LOC126805953 (D5474N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476208	NM_031935.3(HMCN1):c.15018+14A>G	HMCN1, LOC129388665	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1462252	NM_031935.3(HMCN1):c.16532C>G (p.Pro5511Arg)	HMCN1, LOC126805953 (P5511R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461635	NM_031935.3(HMCN1):c.16511C>T (p.Pro5504Leu)	HMCN1, LOC126805953 (P5504L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397056	NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln)	HMCN1, LOC126805953 (R5509Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1394087	NM_031935.3(HMCN1):c.16499A>T (p.Asp5500Val)	HMCN1, LOC126805953 (D5500V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388813	NM_031935.3(HMCN1):c.14993A>G (p.Gln4998Arg)	HMCN1, LOC129388665 (Q4998R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383485	NM_031935.3(HMCN1):c.16522C>A (p.Gln5508Lys)	HMCN1, LOC126805953 (Q5508K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363851	NM_031935.3(HMCN1):c.16498G>A (p.Asp5500Asn)	HMCN1, LOC126805953 (D5500N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874157	NM_031935.3(HMCN1):c.16460G>A (p.Arg5487His)	HMCN1, LOC126805953 (R5487H)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GConflicting classifications of pathogenicity
Select item 723067	NM_031935.3(HMCN1):c.16440T>C (p.Asn5480=)	HMCN1, LOC126805953	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 294282	NM_031935.3(HMCN1):c.15018+7T>A	HMCN1, LOC129388665	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 199240	NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe)	LOC129388665, HMCN1 (T5004F)	Indel (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 199239	NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)	HMCN1, LOC129388665 (T5004I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GBenign/Likely benign
Select item 199238	NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)	HMCN1, LOC129388665 (T5004S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GBenign/Likely benign
Select item 161780	NM_031935.3(HMCN1):c.16792C>T (p.Arg5598Ter)	HMCN1 (R5598*)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 100881	NM_031935.3(HMCN1):c.6295C>T (p.Arg2099Ter)	HMCN1 (R2099*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 100880	NM_031935.3(HMCN1):c.4673C>A (p.Ser1558Ter)	HMCN1 (S1558*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Links from Gene

Items: 50