HMCN1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2978

<< First< Prev

Page of 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 148400	GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1	C1orf21, C1orf21-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 294089	NM_031935.3(HMCN1):c.-156G>A	HMCN1	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 1	GUncertain significance
Select item 294090	NM_031935.3(HMCN1):c.-151C>A	HMCN1	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 1	GUncertain significance
Select item 876421	NM_031935.3(HMCN1):c.-121A>G	HMCN1	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 1	GUncertain significance
Select item 294091	NM_031935.3(HMCN1):c.-87T>C	HMCN1	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 1	GUncertain significance
Select item 294092	NM_031935.3(HMCN1):c.-40T>C	HMCN1	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 1	GUncertain significance
Select item 294093	NM_031935.3(HMCN1):c.-25dup	HMCN1	Duplication (5 prime UTR variant)	Macular degeneration	GUncertain significance
Select item 294094	NM_031935.3(HMCN1):c.-13dup	HMCN1	Duplication (5 prime UTR variant)	Macular degeneration	GUncertain significance
Select item 3049422	NM_031935.3(HMCN1):c.-4_-3del	HMCN1	Deletion (5 prime UTR variant)	HMCN1-related disorder	GLikely benign
Select item 2178907	NM_031935.3(HMCN1):c.8C>A (p.Ser3Tyr)	HMCN1 (S3Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783611	NM_031935.3(HMCN1):c.16G>A (p.Val6Ile)	HMCN1 (V6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016323	NM_031935.3(HMCN1):c.23A>T (p.His8Leu)	HMCN1 (H8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386439	NM_031935.3(HMCN1):c.26C>T (p.Thr9Ile)	HMCN1 (T9I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974202	NM_031935.3(HMCN1):c.30A>G (p.Val10=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731788	NM_031935.3(HMCN1):c.36G>C (p.Leu12=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2693646	NM_031935.3(HMCN1):c.50A>T (p.Tyr17Phe)	HMCN1 (Y17F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083427	NM_031935.3(HMCN1):c.54T>C (p.Ser18=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 294095	NM_031935.3(HMCN1):c.57C>T (p.Ser19=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2762522	NM_031935.3(HMCN1):c.58C>T (p.Leu20=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1721261	NM_031935.3(HMCN1):c.59T>C (p.Leu20Pro)	HMCN1 (L20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2544906	NM_031935.3(HMCN1):c.62C>T (p.Ala21Val)	HMCN1 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2165016	NM_031935.3(HMCN1):c.63T>C (p.Ala21=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041437	NM_031935.3(HMCN1):c.63T>A (p.Ala21=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068265	NM_031935.3(HMCN1):c.76C>T (p.Pro26Ser)	HMCN1 (P26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862221	NM_031935.3(HMCN1):c.79C>G (p.Gln27Glu)	HMCN1 (Q27E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939942	NM_031935.3(HMCN1):c.89T>A (p.Ile30Asn)	HMCN1 (I30N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 876422	NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys)	HMCN1 (E37K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 167179	NM_031935.3(HMCN1):c.114G>T (p.Gly38=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2840065	NM_031935.3(HMCN1):c.115G>A (p.Ala39Thr)	HMCN1 (A39T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957777	NM_031935.3(HMCN1):c.126_127delinsTT (p.Leu42_Ala43delinsPheSer)	HMCN1	Indel (missense variant)	not provided	GUncertain significance
Select item 3106217	NM_031935.3(HMCN1):c.136T>A (p.Phe46Ile)	HMCN1 (F46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1494555	NM_031935.3(HMCN1):c.154A>G (p.Met52Val)	HMCN1 (M52V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181757	NM_031935.3(HMCN1):c.200T>C (p.Leu67Ser)	HMCN1 (L67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146423	NM_031935.3(HMCN1):c.207G>A (p.Thr69=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958866	NM_031935.3(HMCN1):c.243T>C (p.Phe81=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414952	NM_031935.3(HMCN1):c.252G>A (p.Val84=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943782	NM_031935.3(HMCN1):c.254C>G (p.Pro85Arg)	HMCN1 (P85R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715090	NM_031935.3(HMCN1):c.254C>T (p.Pro85Leu)	HMCN1 (P85L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970392	NM_031935.3(HMCN1):c.264T>C (p.Asp88=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966663	NM_031935.3(HMCN1):c.269-20T>C	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964860	NM_031935.3(HMCN1):c.269-3C>T	HMCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1906201	NM_031935.3(HMCN1):c.271A>G (p.Ile91Val)	HMCN1 (I91V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111060	NM_031935.3(HMCN1):c.274G>T (p.Gly92Cys)	HMCN1 (G92C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699730	NM_031935.3(HMCN1):c.275G>A (p.Gly92Asp)	HMCN1 (G92D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043507	NM_031935.3(HMCN1):c.276C>T (p.Gly92=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876423	NM_031935.3(HMCN1):c.295G>A (p.Asp99Asn)	HMCN1 (D99N)	Single nucleotide variant (missense variant)	Age related macular degeneration 1	GUncertain significance
Select item 1382774	NM_031935.3(HMCN1):c.302A>G (p.Lys101Arg)	HMCN1 (K101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3106232	NM_031935.3(HMCN1):c.305A>G (p.Lys102Arg)	HMCN1 (K102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2697161	NM_031935.3(HMCN1):c.313T>A (p.Tyr105Asn)	HMCN1 (Y105N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2511401	NM_031935.3(HMCN1):c.314A>G (p.Tyr105Cys)	HMCN1 (Y105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2976107	NM_031935.3(HMCN1):c.323G>A (p.Arg108Lys)	HMCN1 (R108K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2987681	NM_031935.3(HMCN1):c.338A>G (p.Gln113Arg)	HMCN1 (Q113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001818	NM_031935.3(HMCN1):c.339G>A (p.Gln113=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2054111	NM_031935.3(HMCN1):c.339+3G>A	HMCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1924878	NM_031935.3(HMCN1):c.339+17A>G	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938052	NM_031935.3(HMCN1):c.339+19T>A	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185241	NM_031935.3(HMCN1):c.340-9A>G	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925872	NM_031935.3(HMCN1):c.340-3C>T	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2272310	NM_031935.3(HMCN1):c.368T>C (p.Ile123Thr)	HMCN1 (I123T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 745026	NM_031935.3(HMCN1):c.369T>C (p.Ile123=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2893880	NM_031935.3(HMCN1):c.371G>A (p.Gly124Glu)	HMCN1 (G124E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823963	NM_031935.3(HMCN1):c.375T>C (p.Ala125=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994602	NM_031935.3(HMCN1):c.380A>G (p.Lys127Arg)	HMCN1 (K127R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140505	NM_031935.3(HMCN1):c.385G>T (p.Ala129Ser)	HMCN1 (A129S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416092	NM_031935.3(HMCN1):c.407G>T (p.Gly136Val)	HMCN1 (G136V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911646	NM_031935.3(HMCN1):c.426C>T (p.Phe142=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1430091	NM_031935.3(HMCN1):c.437G>A (p.Arg146Gln)	HMCN1 (R146Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1961541	NM_031935.3(HMCN1):c.438G>A (p.Arg146=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534346	NM_031935.3(HMCN1):c.441C>T (p.Ser147=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748861	NM_031935.3(HMCN1):c.446A>T (p.Asp149Val)	HMCN1 (D149V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917081	NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)	HMCN1 (R151W)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1924986	NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)	HMCN1 (R151Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2059202	NM_031935.3(HMCN1):c.453G>A (p.Arg151=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142919	NM_031935.3(HMCN1):c.456C>G (p.Leu152=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1954764	NM_031935.3(HMCN1):c.456C>T (p.Leu152=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762485	NM_031935.3(HMCN1):c.462T>A (p.His154Gln)	HMCN1 (H154Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280247	NM_031935.3(HMCN1):c.479T>C (p.Ile160Thr)	HMCN1 (I160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2796712	NM_031935.3(HMCN1):c.480C>T (p.Ile160=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924590	NM_031935.3(HMCN1):c.490C>T (p.Gln164Ter)	HMCN1 (Q164*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2765135	NM_031935.3(HMCN1):c.498+10A>T	HMCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1641719	NM_031935.3(HMCN1):c.498+11A>C	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 294096	NM_031935.3(HMCN1):c.498+15A>C	HMCN1	Single nucleotide variant (intron variant)	Age related macular degeneration 1 +1 more	GLikely benign
Select item 2973175	NM_031935.3(HMCN1):c.498+19del	HMCN1	Deletion (intron variant)	not provided	GBenign
Select item 1991288	NM_031935.3(HMCN1):c.498+17C>T	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904175	NM_031935.3(HMCN1):c.498+18C>T	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845896	NM_031935.3(HMCN1):c.499-15T>G	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992139	NM_031935.3(HMCN1):c.499-12T>G	HMCN1	Single nucleotide variant (intron variant)	not provided	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 1895814	NM_031935.3(HMCN1):c.499-6T>A	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418351	NM_031935.3(HMCN1):c.502G>A (p.Val168Ile)	HMCN1 (V168I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919017	NM_031935.3(HMCN1):c.502G>T (p.Val168Leu)	HMCN1 (V168L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174910	NM_031935.3(HMCN1):c.508G>A (p.Val170Ile)	HMCN1 (V170I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

<< First< Prev

Page of 30