ClinVar for Gene (Select 83872) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106250	NM_031935.3(HMCN1):c.965G>T (p.Gly322Val)	HMCN1 (G322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106249	NM_031935.3(HMCN1):c.964G>A (p.Gly322Ser)	HMCN1 (G322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106248	NM_031935.3(HMCN1):c.9550G>A (p.Ala3184Thr)	HMCN1 (A3184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106247	NM_031935.3(HMCN1):c.9296T>C (p.Met3099Thr)	HMCN1 (M3099T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106246	NM_031935.3(HMCN1):c.9028A>G (p.Asn3010Asp)	HMCN1 (N3010D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106245	NM_031935.3(HMCN1):c.8271T>A (p.Asp2757Glu)	HMCN1 (D2757E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106244	NM_031935.3(HMCN1):c.803T>C (p.Ile268Thr)	HMCN1 (I268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106243	NM_031935.3(HMCN1):c.7582A>G (p.Ile2528Val)	HMCN1 (I2528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106242	NM_031935.3(HMCN1):c.745G>T (p.Val249Leu)	HMCN1 (V249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106241	NM_031935.3(HMCN1):c.6359C>T (p.Ala2120Val)	HMCN1 (A2120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106240	NM_031935.3(HMCN1):c.587A>G (p.Gln196Arg)	HMCN1 (Q196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106239	NM_031935.3(HMCN1):c.5420C>A (p.Ala1807Glu)	HMCN1 (A1807E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106238	NM_031935.3(HMCN1):c.528T>A (p.Asp176Glu)	HMCN1 (D176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106237	NM_031935.3(HMCN1):c.5160A>C (p.Glu1720Asp)	HMCN1 (E1720D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106236	NM_031935.3(HMCN1):c.5077G>A (p.Gly1693Ser)	HMCN1 (G1693S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106235	NM_031935.3(HMCN1):c.4472G>A (p.Gly1491Asp)	HMCN1 (G1491D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106234	NM_031935.3(HMCN1):c.3662A>G (p.Asn1221Ser)	HMCN1 (N1221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106233	NM_031935.3(HMCN1):c.3178G>A (p.Ala1060Thr)	HMCN1 (A1060T)	Single nucleotide variant (missense variant)	not specified	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 3106231	NM_031935.3(HMCN1):c.2785G>T (p.Ala929Ser)	HMCN1 (A929S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106229	NM_031935.3(HMCN1):c.2456A>G (p.Tyr819Cys)	HMCN1 (Y819C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106228	NM_031935.3(HMCN1):c.2450A>T (p.Gln817Leu)	HMCN1 (Q817L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106227	NM_031935.3(HMCN1):c.2156C>A (p.Thr719Asn)	HMCN1 (T719N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106226	NM_031935.3(HMCN1):c.2021A>G (p.Lys674Arg)	HMCN1 (K674R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106225	NM_031935.3(HMCN1):c.2011G>A (p.Ala671Thr)	HMCN1 (A671T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106223	NM_031935.3(HMCN1):c.16397A>G (p.Asn5466Ser)	HMCN1 (N5466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106221	NM_031935.3(HMCN1):c.15539G>C (p.Gly5180Ala)	HMCN1 (G5180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106220	NM_031935.3(HMCN1):c.14831C>T (p.Ala4944Val)	HMCN1 (A4944V)	Single nucleotide variant (missense variant)	not specified	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 3106216	NM_031935.3(HMCN1):c.12721G>C (p.Ala4241Pro)	HMCN1 (A4241P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106214	NM_031935.3(HMCN1):c.12497A>G (p.His4166Arg)	HMCN1 (H4166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106213	NM_031935.3(HMCN1):c.12068A>G (p.Lys4023Arg)	HMCN1 (K4023R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106212	NM_031935.3(HMCN1):c.11862A>G (p.Ile3954Met)	HMCN1 (I3954M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106211	NM_031935.3(HMCN1):c.10970G>C (p.Arg3657Thr)	HMCN1 (R3657T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106210	NM_031935.3(HMCN1):c.10923G>T (p.Leu3641Phe)	HMCN1 (L3641F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106209	NM_031935.3(HMCN1):c.10855C>A (p.Pro3619Thr)	HMCN1 (P3619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106208	NM_031935.3(HMCN1):c.10805C>T (p.Ser3602Phe)	HMCN1 (S3602F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106207	NM_031935.3(HMCN1):c.10766C>T (p.Ala3589Val)	HMCN1 (A3589V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106206	NM_031935.3(HMCN1):c.10530T>G (p.Asn3510Lys)	HMCN1 (N3510K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106205	NM_031935.3(HMCN1):c.10474C>G (p.Gln3492Glu)	HMCN1 (Q3492E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106204	NM_031935.3(HMCN1):c.10261G>T (p.Val3421Leu)	HMCN1 (V3421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106203	NM_031935.3(HMCN1):c.10030G>A (p.Gly3344Ser)	HMCN1 (G3344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066031	NM_031935.3(HMCN1):c.6292C>A (p.Leu2098Ile)	HMCN1 (L2098I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3057675	NM_031935.3(HMCN1):c.9510A>G (p.Thr3170=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related condition	GLikely benign
Select item 3054885	NM_031935.3(HMCN1):c.15574+9A>T	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related condition	GLikely benign
Select item 3054157	NM_031935.3(HMCN1):c.15574+10T>A	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related condition	GLikely benign
Select item 3052498	NM_031935.3(HMCN1):c.13677C>T (p.Pro4559=)	HMCN1	Single nucleotide variant (synonymous variant)	HMCN1-related condition	GLikely benign
Select item 3050796	NM_031935.3(HMCN1):c.499-8A>G	HMCN1	Single nucleotide variant (intron variant)	HMCN1-related condition	GLikely benign
Select item 3049598	NM_031935.3(HMCN1):c.9446-30TTTG[6]	HMCN1	Microsatellite (intron variant)	HMCN1-related condition	GLikely benign
Select item 3049422	NM_031935.3(HMCN1):c.-4_-3del	HMCN1	Deletion (5 prime UTR variant)	HMCN1-related condition	GLikely benign
Select item 3043836	NM_031935.3(HMCN1):c.7427-23TTG[4]	HMCN1	Microsatellite (intron variant)	HMCN1-related condition	GLikely benign
Select item 3023008	NM_031935.3(HMCN1):c.8221G>A (p.Gly2741Arg)	HMCN1 (G2741R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3022509	NM_031935.3(HMCN1):c.948T>C (p.Thr316=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022423	NM_031935.3(HMCN1):c.6568A>G (p.Asn2190Asp)	HMCN1 (N2190D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022360	NM_031935.3(HMCN1):c.2861A>G (p.Asp954Gly)	HMCN1 (D954G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021273	NM_031935.3(HMCN1):c.12183G>A (p.Gln4061=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020406	NM_031935.3(HMCN1):c.1143A>T (p.Pro381=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020126	NM_031935.3(HMCN1):c.8598C>T (p.Leu2866=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3019408	NM_031935.3(HMCN1):c.15724G>T (p.Asp5242Tyr)	HMCN1 (D5242Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019323	NM_031935.3(HMCN1):c.15477C>T (p.His5159=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019127	NM_031935.3(HMCN1):c.13209C>T (p.Ser4403=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018452	NM_031935.3(HMCN1):c.14438-2A>G	HMCN1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3018430	NM_031935.3(HMCN1):c.10106C>T (p.Thr3369Met)	HMCN1 (T3369M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016720	NM_031935.3(HMCN1):c.3217A>G (p.Arg1073Gly)	HMCN1 (R1073G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016619	NM_031935.3(HMCN1):c.14266+7_14266+22del	HMCN1	Deletion (splice donor 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 3016159	NM_031935.3(HMCN1):c.7773C>G (p.Ser2591Arg)	HMCN1 (S2591R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016013	NM_031935.3(HMCN1):c.10700G>A (p.Arg3567Gln)	HMCN1 (R3567Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013153	NM_031935.3(HMCN1):c.4909+6G>A	HMCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3012973	NM_031935.3(HMCN1):c.16047G>T (p.Gly5349=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012909	NM_031935.3(HMCN1):c.4076C>T (p.Pro1359Leu)	HMCN1 (P1359L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012695	NM_031935.3(HMCN1):c.14160C>T (p.Ala4720=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012531	NM_031935.3(HMCN1):c.5301-14G>C	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012171	NM_031935.3(HMCN1):c.10830G>C (p.Lys3610Asn)	HMCN1 (K3610N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012100	NM_031935.3(HMCN1):c.12864G>C (p.Leu4288Phe)	HMCN1 (L4288F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011365	NM_031935.3(HMCN1):c.3714A>G (p.Ile1238Met)	HMCN1 (I1238M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010643	NM_031935.3(HMCN1):c.14456G>C (p.Ser4819Thr)	HMCN1 (S4819T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009696	NM_031935.3(HMCN1):c.3209-15A>T	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008337	NM_031935.3(HMCN1):c.2935+18T>C	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008274	NM_031935.3(HMCN1):c.9363+10T>G	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007886	NM_031935.3(HMCN1):c.14792A>G (p.Asn4931Ser)	HMCN1 (N4931S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007465	NM_031935.3(HMCN1):c.14249A>G (p.Asn4750Ser)	HMCN1 (N4750S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007012	NM_031935.3(HMCN1):c.5061T>G (p.Asn1687Lys)	HMCN1 (N1687K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006815	NM_031935.3(HMCN1):c.6251T>A (p.Val2084Glu)	HMCN1 (V2084E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006755	NM_031935.3(HMCN1):c.2489A>G (p.Asp830Gly)	HMCN1 (D830G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006285	NM_031935.3(HMCN1):c.3365C>T (p.Pro1122Leu)	HMCN1 (P1122L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006277	NM_031935.3(HMCN1):c.4018G>T (p.Ala1340Ser)	HMCN1 (A1340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005933	NM_031935.3(HMCN1):c.16095T>A (p.Thr5365=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005716	NM_031935.3(HMCN1):c.7513+6G>A	HMCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3005249	NM_031935.3(HMCN1):c.4214G>A (p.Ser1405Asn)	HMCN1 (S1405N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004614	NM_031935.3(HMCN1):c.14221G>A (p.Gly4741Arg)	HMCN1 (G4741R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003352	NM_031935.3(HMCN1):c.5079T>C (p.Gly1693=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002456	NM_031935.3(HMCN1):c.3209-14T>C	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002328	NM_031935.3(HMCN1):c.10508A>G (p.Lys3503Arg)	HMCN1 (K3503R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001991	NM_031935.3(HMCN1):c.4738A>G (p.Thr1580Ala)	HMCN1 (T1580A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001967	NM_031935.3(HMCN1):c.3049-12C>T	HMCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001928	NM_031935.3(HMCN1):c.2104C>T (p.Pro702Ser)	HMCN1 (P702S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001740	NM_031935.3(HMCN1):c.15496A>G (p.Asn5166Asp)	HMCN1 (N5166D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001331	NM_031935.3(HMCN1):c.15039T>G (p.Ile5013Met)	HMCN1 (I5013M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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