ClinVar for Gene (Select 8924) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148917	GRCh37/hg19 15q12-13.1(chr15:27065946-28659911)x1	GABRA5, GABRG3 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3148890	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28962791)x1	ATP10A, CYFIP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 3105415	NM_004667.6(HERC2):c.9937C>T (p.Arg3313Cys)	HERC2 (R3313C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105414	NM_004667.6(HERC2):c.9878C>T (p.Thr3293Met)	HERC2 (T3293M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105413	NM_004667.6(HERC2):c.9633G>C (p.Glu3211Asp)	HERC2 (E3211D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105412	NM_004667.6(HERC2):c.953A>G (p.Asp318Gly)	HERC2 (D318G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105410	NM_004667.6(HERC2):c.8770C>T (p.Pro2924Ser)	HERC2 (P2924S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105409	NM_004667.6(HERC2):c.8660A>G (p.Tyr2887Cys)	HERC2 (Y2887C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105408	NM_004667.6(HERC2):c.8627C>T (p.Pro2876Leu)	HERC2 (P2876L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105407	NM_004667.6(HERC2):c.8345G>T (p.Trp2782Leu)	HERC2 (W2782L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105406	NM_004667.6(HERC2):c.8144C>T (p.Pro2715Leu)	HERC2 (P2715L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105405	NM_004667.6(HERC2):c.8032G>T (p.Asp2678Tyr)	HERC2 (D2678Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105404	NM_004667.6(HERC2):c.7883T>C (p.Ile2628Thr)	HERC2 (I2628T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105403	NM_004667.6(HERC2):c.7858G>T (p.Val2620Phe)	HERC2 (V2620F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105402	NM_004667.6(HERC2):c.7817A>G (p.Asn2606Ser)	HERC2 (N2606S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105401	NM_004667.6(HERC2):c.7373C>T (p.Ala2458Val)	HERC2 (A2458V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105400	NM_004667.6(HERC2):c.7312G>T (p.Val2438Phe)	HERC2 (V2438F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105399	NM_004667.6(HERC2):c.6988C>T (p.Arg2330Trp)	HERC2 (R2330W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105398	NM_004667.6(HERC2):c.6851C>G (p.Ala2284Gly)	HERC2 (A2284G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3105397	NM_004667.6(HERC2):c.6662G>C (p.Gly2221Ala)	HERC2 (G2221A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105396	NM_004667.6(HERC2):c.6592C>T (p.Pro2198Ser)	HERC2 (P2198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105395	NM_004667.6(HERC2):c.6389C>T (p.Pro2130Leu)	HERC2 (P2130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105394	NM_004667.6(HERC2):c.6376C>T (p.Arg2126Cys)	HERC2 (R2126C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3105393	NM_004667.6(HERC2):c.5720A>G (p.Gln1907Arg)	HERC2 (Q1907R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105392	NM_004667.6(HERC2):c.5566C>T (p.Leu1856Phe)	HERC2 (L1856F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105390	NM_004667.6(HERC2):c.5224A>G (p.Asn1742Asp)	HERC2 (N1742D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105388	NM_004667.6(HERC2):c.5042A>G (p.Lys1681Arg)	HERC2 (K1681R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105387	NM_004667.6(HERC2):c.4869G>T (p.Lys1623Asn)	HERC2 (K1623N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105386	NM_004667.6(HERC2):c.410C>A (p.Ala137Asp)	HERC2 (A137D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105385	NM_004667.6(HERC2):c.3953C>T (p.Ser1318Leu)	HERC2 (S1318L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105384	NM_004667.6(HERC2):c.3129C>G (p.His1043Gln)	HERC2 (H1043Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105383	NM_004667.6(HERC2):c.3098G>A (p.Arg1033Gln)	HERC2 (R1033Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105382	NM_004667.6(HERC2):c.3088G>A (p.Val1030Ile)	HERC2 (V1030I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105380	NM_004667.6(HERC2):c.299G>A (p.Ser100Asn)	HERC2 (S100N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105379	NM_004667.6(HERC2):c.2997G>T (p.Glu999Asp)	HERC2 (E999D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105378	NM_004667.6(HERC2):c.2927C>T (p.Ala976Val)	HERC2 (A976V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105377	NM_004667.6(HERC2):c.256G>C (p.Glu86Gln)	HERC2 (E86Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105376	NM_004667.6(HERC2):c.2488G>A (p.Val830Met)	HERC2 (V830M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105375	NM_004667.6(HERC2):c.2449G>A (p.Ala817Thr)	HERC2 (A817T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3105374	NM_004667.6(HERC2):c.2350A>C (p.Ile784Leu)	HERC2 (I784L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105373	NM_004667.6(HERC2):c.2214G>T (p.Gln738His)	HERC2 (Q738H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105372	NM_004667.6(HERC2):c.2168C>T (p.Ala723Val)	HERC2 (A723V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105370	NM_004667.6(HERC2):c.1448C>T (p.Ala483Val)	HERC2 (A483V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105369	NM_004667.6(HERC2):c.14425G>A (p.Asp4809Asn)	HERC2 (D4809N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105367	NM_004667.6(HERC2):c.13785G>T (p.Glu4595Asp)	HERC2 (E4595D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105366	NM_004667.6(HERC2):c.13709C>T (p.Ala4570Val)	HERC2 (A4570V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105365	NM_004667.6(HERC2):c.13565C>T (p.Pro4522Leu)	HERC2 (P4522L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105364	NM_004667.6(HERC2):c.12758C>T (p.Ala4253Val)	HERC2 (A4253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105362	NM_004667.6(HERC2):c.11735G>A (p.Ser3912Asn)	HERC2 (S3912N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105361	NM_004667.6(HERC2):c.11414C>T (p.Ala3805Val)	HERC2 (A3805V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105360	NM_004667.6(HERC2):c.1133C>A (p.Thr378Asn)	HERC2 (T378N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105359	NM_004667.6(HERC2):c.1109A>G (p.Asn370Ser)	HERC2 (N370S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105358	NM_004667.6(HERC2):c.10961C>G (p.Pro3654Arg)	HERC2 (P3654R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105356	NM_004667.6(HERC2):c.10507C>G (p.Leu3503Val)	HERC2 (L3503V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105355	NM_004667.6(HERC2):c.10219A>G (p.Met3407Val)	HERC2 (M3407V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105354	NM_004667.6(HERC2):c.10090A>G (p.Ser3364Gly)	HERC2 (S3364G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105353	NM_004667.6(HERC2):c.10030A>G (p.Arg3344Gly)	HERC2 (R3344G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067243	NM_004667.6(HERC2):c.9564C>T (p.Gly3188=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067230	NM_004667.6(HERC2):c.11667A>G (p.Lys3889=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067203	NM_004667.6(HERC2):c.10191A>G (p.Leu3397=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065557	NM_004667.6(HERC2):c.6289G>A (p.Val2097Met)	HERC2 (V2097M)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GUncertain significance
Select item 3065359	NM_004667.6(HERC2):c.7704_7716+5del	HERC2	Deletion (splice donor variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	PWRN3, PWRN4 +170 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3059765	NM_004667.6(HERC2):c.9210G>A (p.Ser3070=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GBenign
Select item 3058222	NM_004667.6(HERC2):c.10068A>G (p.Ser3356=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3057659	NM_004667.6(HERC2):c.11299+5A>G	HERC2	Single nucleotide variant (intron variant)	HERC2-related condition	GLikely benign
Select item 3056273	NM_004667.6(HERC2):c.3235+10T>A	HERC2	Single nucleotide variant (intron variant)	HERC2-related condition	GBenign
Select item 3056226	NM_004667.6(HERC2):c.801-3C>G	HERC2	Single nucleotide variant (intron variant)	HERC2-related condition	GBenign
Select item 3055852	NM_004667.6(HERC2):c.952G>T (p.Asp318Tyr)	HERC2 (D318Y)	Single nucleotide variant (missense variant)	HERC2-related condition	GBenign
Select item 3055821	NM_004667.6(HERC2):c.11079C>T (p.Ser3693=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GBenign
Select item 3055380	NM_004667.6(HERC2):c.9096G>A (p.Thr3032=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GBenign
Select item 3054727	NM_004667.6(HERC2):c.13414+3G>A	HERC2	Single nucleotide variant (intron variant)	HERC2-related condition	GLikely benign
Select item 3054573	NM_004667.6(HERC2):c.10863C>T (p.Thr3621=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3054118	NM_004667.6(HERC2):c.801-7A>G	HERC2	Single nucleotide variant (intron variant)	HERC2-related condition	GLikely benign
Select item 3052736	NM_004667.6(HERC2):c.1731C>T (p.Arg577=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3052146	NM_004667.6(HERC2):c.8454C>T (p.His2818=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3051924	NM_004667.6(HERC2):c.2604G>A (p.Thr868=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3051496	NM_004667.6(HERC2):c.11790C>T (p.Asp3930=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3051319	NM_004667.6(HERC2):c.1467C>A (p.Gly489=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3048971	NM_004667.6(HERC2):c.1869C>T (p.Asn623=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3047821	NM_004667.6(HERC2):c.11202G>A (p.Thr3734=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3047515	NM_004667.6(HERC2):c.10500G>A (p.Thr3500=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3046944	NM_004667.6(HERC2):c.2571G>T (p.Leu857=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3046647	NM_004667.6(HERC2):c.646G>T (p.Glu216Ter)	HERC2 (E216*)	Single nucleotide variant (nonsense)	HERC2-related condition	GUncertain significance
Select item 3046126	NM_004667.6(HERC2):c.1662G>T (p.Val554=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3045971	NM_004667.6(HERC2):c.471C>T (p.Thr157=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3045321	NM_004667.6(HERC2):c.12951G>A (p.Ser4317=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3043683	NM_004667.6(HERC2):c.10371C>A (p.Ile3457=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3042253	NM_004667.6(HERC2):c.10032A>G (p.Arg3344=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3041624	NM_004667.6(HERC2):c.810C>T (p.His270=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3040961	NM_004667.6(HERC2):c.9832-9C>T	HERC2	Single nucleotide variant (intron variant)	HERC2-related condition	GLikely benign
Select item 3039846	NM_004667.6(HERC2):c.11818C>A (p.Arg3940=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3038626	NM_004667.6(HERC2):c.10713G>A (p.Ala3571=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related condition	GLikely benign
Select item 3038238	NM_004667.6(HERC2):c.6686G>C (p.Gly2229Ala)	HERC2 (G2229A)	Single nucleotide variant (missense variant)	HERC2-related condition	GUncertain significance

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