ClinVar for Gene (Select 83872) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3525914	NM_031935.3(HMCN1):c.12006C>A (p.Asn4002Lys)	HMCN1 (N4002K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525913	NM_031935.3(HMCN1):c.8378A>G (p.Asn2793Ser)	HMCN1 (N2793S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525912	NM_031935.3(HMCN1):c.14455A>G (p.Ser4819Gly)	HMCN1 (S4819G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525911	NM_031935.3(HMCN1):c.14004A>T (p.Arg4668Ser)	HMCN1 (R4668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525910	NM_031935.3(HMCN1):c.11957A>C (p.Glu3986Ala)	HMCN1 (E3986A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525909	NM_031935.3(HMCN1):c.9769A>G (p.Ser3257Gly)	HMCN1 (S3257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525908	NM_031935.3(HMCN1):c.3818C>T (p.Thr1273Ile)	HMCN1 (T1273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525906	NM_031935.3(HMCN1):c.3820A>G (p.Thr1274Ala)	HMCN1 (T1274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525905	NM_031935.3(HMCN1):c.2185C>T (p.Pro729Ser)	HMCN1 (P729S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525904	NM_031935.3(HMCN1):c.5699C>T (p.Ala1900Val)	HMCN1 (A1900V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525902	NM_031935.3(HMCN1):c.5341T>C (p.Phe1781Leu)	HMCN1 (F1781L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525901	NM_031935.3(HMCN1):c.8750A>T (p.Asp2917Val)	HMCN1 (D2917V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525900	NM_031935.3(HMCN1):c.448T>C (p.Tyr150His)	HMCN1 (Y150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525899	NM_031935.3(HMCN1):c.7943C>T (p.Ala2648Val)	HMCN1 (A2648V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525898	NM_031935.3(HMCN1):c.711A>T (p.Arg237Ser)	HMCN1 (R237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525897	NM_031935.3(HMCN1):c.6793G>A (p.Ala2265Thr)	HMCN1 (A2265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525896	NM_031935.3(HMCN1):c.14138C>G (p.Ser4713Cys)	HMCN1 (S4713C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525894	NM_031935.3(HMCN1):c.13545G>T (p.Met4515Ile)	HMCN1 (M4515I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525893	NM_031935.3(HMCN1):c.6854A>C (p.Gln2285Pro)	HMCN1 (Q2285P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525892	NM_031935.3(HMCN1):c.12065A>C (p.Gln4022Pro)	HMCN1 (Q4022P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525891	NM_031935.3(HMCN1):c.87G>T (p.Glu29Asp)	HMCN1 (E29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525890	NM_031935.3(HMCN1):c.10999C>G (p.Arg3667Gly)	HMCN1 (R3667G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525889	NM_031935.3(HMCN1):c.5978C>G (p.Ala1993Gly)	HMCN1 (A1993G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525888	NM_031935.3(HMCN1):c.14569A>G (p.Thr4857Ala)	HMCN1 (T4857A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3525887	NM_031935.3(HMCN1):c.5692T>C (p.Cys1898Arg)	HMCN1 (C1898R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525886	NM_031935.3(HMCN1):c.5572A>G (p.Ile1858Val)	HMCN1 (I1858V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525884	NM_031935.3(HMCN1):c.5378C>A (p.Ala1793Asp)	HMCN1 (A1793D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525883	NM_031935.3(HMCN1):c.12151G>C (p.Glu4051Gln)	HMCN1 (E4051Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525882	NM_031935.3(HMCN1):c.8803A>G (p.Ile2935Val)	HMCN1 (I2935V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525881	NM_031935.3(HMCN1):c.9232T>C (p.Ser3078Pro)	HMCN1 (S3078P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525880	NM_031935.3(HMCN1):c.9663C>G (p.Asn3221Lys)	HMCN1 (N3221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525879	NM_031935.3(HMCN1):c.13421C>T (p.Ser4474Phe)	HMCN1 (S4474F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525877	NM_031935.3(HMCN1):c.3421C>T (p.Arg1141Cys)	HMCN1 (R1141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525876	NM_031935.3(HMCN1):c.16375C>T (p.Pro5459Ser)	HMCN1 (P5459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525875	NM_031935.3(HMCN1):c.10519A>C (p.Ile3507Leu)	HMCN1 (I3507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525873	NM_031935.3(HMCN1):c.7927A>G (p.Arg2643Gly)	HMCN1 (R2643G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525872	NM_031935.3(HMCN1):c.12799G>A (p.Gly4267Arg)	HMCN1 (G4267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525871	NM_031935.3(HMCN1):c.12350G>A (p.Arg4117His)	HMCN1 (R4117H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3525869	NM_031935.3(HMCN1):c.9253G>T (p.Ala3085Ser)	HMCN1 (A3085S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3525867	NM_031935.3(HMCN1):c.3878C>T (p.Thr1293Ile)	HMCN1 (T1293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352369	NM_031935.3(HMCN1):c.10163A>G (p.His3388Arg)	HMCN1 (H3388R)	Single nucleotide variant (missense variant)	HMCN1-related disorder	GUncertain significance
Select item 3284481	NM_031935.3(HMCN1):c.2357C>T (p.Thr786Ile)	HMCN1 (T786I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284480	NM_031935.3(HMCN1):c.1187C>T (p.Pro396Leu)	HMCN1 (P396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284479	NM_031935.3(HMCN1):c.13784G>T (p.Trp4595Leu)	HMCN1 (W4595L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284478	NM_031935.3(HMCN1):c.13288C>T (p.Arg4430Cys)	HMCN1 (R4430C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284477	NM_031935.3(HMCN1):c.2571A>C (p.Leu857Phe)	HMCN1 (L857F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284476	NM_031935.3(HMCN1):c.1546G>C (p.Val516Leu)	HMCN1 (V516L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284475	NM_031935.3(HMCN1):c.3649C>T (p.His1217Tyr)	HMCN1 (H1217Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284473	NM_031935.3(HMCN1):c.11266A>G (p.Asn3756Asp)	HMCN1 (N3756D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284472	NM_031935.3(HMCN1):c.13220A>G (p.Tyr4407Cys)	HMCN1 (Y4407C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284471	NM_031935.3(HMCN1):c.13960A>G (p.Thr4654Ala)	HMCN1 (T4654A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284470	NM_031935.3(HMCN1):c.761C>T (p.Pro254Leu)	HMCN1 (P254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284469	NM_031935.3(HMCN1):c.16545C>G (p.Phe5515Leu)	HMCN1 (F5515L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284468	NM_031935.3(HMCN1):c.16135A>G (p.Arg5379Gly)	HMCN1 (R5379G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284467	NM_031935.3(HMCN1):c.15715T>C (p.Cys5239Arg)	HMCN1 (C5239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284466	NM_031935.3(HMCN1):c.14270A>G (p.His4757Arg)	HMCN1 (H4757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284465	NM_031935.3(HMCN1):c.9442T>C (p.Tyr3148His)	HMCN1 (Y3148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284464	NM_031935.3(HMCN1):c.11881C>T (p.His3961Tyr)	HMCN1 (H3961Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284463	NM_031935.3(HMCN1):c.7958G>T (p.Gly2653Val)	HMCN1 (G2653V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284462	NM_031935.3(HMCN1):c.15613C>T (p.Arg5205Cys)	HMCN1 (R5205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284461	NM_031935.3(HMCN1):c.11321A>G (p.His3774Arg)	HMCN1 (H3774R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284460	NM_031935.3(HMCN1):c.14725C>T (p.Arg4909Cys)	HMCN1 (R4909C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284459	NM_031935.3(HMCN1):c.560A>T (p.Glu187Val)	HMCN1 (E187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248020	NC_000001.10:g.(?_186114515)_(186159010_?)dup	HMCN1	Duplication	not provided	GUncertain significance
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

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