12538[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 57177	GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3	DGKD, DNAJB3 +16 more	Copy number gain	See cases	GUncertain significance
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 2690422	NM_001072.4(UGT1A6):c.16C>T (p.Arg6Cys)	UGT1A, UGT1A10 +4 more (R6C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2428588	NM_001072.4(UGT1A6):c.18_19delinsTG (p.Ser7Ala)	UGT1A, UGT1A10 +4 more (S7A)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 440378	NM_019076.5(UGT1A8):c.856-74011T>G	UGT1A9, UGT1A8 +4 more (S7A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2690424	NM_001072.4(UGT1A6):c.29G>A (p.Arg10Lys)	UGT1A, UGT1A10 +4 more (R10K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690423	NM_001072.4(UGT1A6):c.61T>C (p.Trp21Arg)	UGT1A, UGT1A10 +4 more (W21R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3186115	NM_001072.4(UGT1A6):c.85C>A (p.Leu29Met)	UGT1A, UGT1A10 +4 more (L29M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 810915	NM_001072.4(UGT1A6):c.105C>T (p.Asp35=)	UGT1A9, UGT1A +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2464005	NM_001072.4(UGT1A6):c.124A>G (p.Met42Val)	UGT1A, UGT1A10 +4 more (M42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186110	NM_001072.4(UGT1A6):c.130G>C (p.Asp44His)	UGT1A, UGT1A10 +4 more (D44H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330836	NM_001072.4(UGT1A6):c.142G>A (p.Val48Ile)	UGT1A, UGT1A10 +4 more (V48I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 811907	NM_001072.4(UGT1A6):c.146T>G (p.Leu49Arg)	UGT1A, UGT1A10 +4 more (L49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405375	NM_001072.4(UGT1A6):c.154C>T (p.Arg52Trp)	UGT1A, UGT1A10 +4 more (R52W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330907	NM_001072.4(UGT1A6):c.159del (p.His54fs)	UGT1A, UGT1A10 +4 more (H54fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2480793	NM_001072.4(UGT1A6):c.206A>G (p.Glu69Gly)	UGT1A, UGT1A10 +4 more (E69G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 994070	NM_001072.4(UGT1A6):c.214T>C (p.Tyr72His)	UGT1A, UGT1A10 +4 more (Y72H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2535022	NM_001072.4(UGT1A6):c.229A>G (p.Ile77Val)	UGT1A, UGT1A10 +4 more (I77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2690421	NM_001072.4(UGT1A6):c.263A>G (p.Lys88Arg)	UGT1A, UGT1A10 +4 more (K88R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2519846	NM_001072.4(UGT1A6):c.268C>T (p.Arg90Cys)	UGT1A, UGT1A10 +4 more (R90C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2690419	NM_001072.4(UGT1A6):c.269G>A (p.Arg90His)	UGT1A, UGT1A10 +4 more (R90H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2369994	NM_001072.4(UGT1A6):c.293A>G (p.His98Arg)	UGT1A, UGT1A10 +4 more (H98R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 440379	NM_019076.5(UGT1A8):c.856-73715A>G	UGT1A8, UGT1A9 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 618468	NM_001072.4(UGT1A6):c.348G>C (p.Met116Ile)	UGT1A10, UGT1A6 +4 more (M116I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2404566	NM_001072.4(UGT1A6):c.371T>A (p.Ile124Asn)	UGT1A, UGT1A10 +4 more (I124N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206502	NM_001072.4(UGT1A6):c.433G>C (p.Asp145His)	UGT1A, UGT1A10 +4 more (D145H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254557	NM_001072.4(UGT1A6):c.454G>A (p.Ala152Thr)	UGT1A, UGT1A10 +4 more (A152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250118	NM_001072.4(UGT1A6):c.496C>T (p.Pro166Ser)	UGT1A, UGT1A10 +4 more (P166S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2920754	NM_019076.5(UGT1A8):c.856-73523C>T	UGT1A9, UGT1A +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2492344	NM_001072.4(UGT1A6):c.517G>A (p.Gly173Ser)	UGT1A, UGT1A10 +4 more (G173S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508831	NM_001072.4(UGT1A6):c.523C>G (p.Pro175Ala)	UGT1A, UGT1A10 +4 more (P175A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328917	NM_001072.4(UGT1A6):c.530C>G (p.Ser177Cys)	UGT1A, UGT1A10 +4 more (S177C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 440381	NM_019076.5(UGT1A8):c.856-73489A>G	UGT1A8, UGT1A10 +4 more (T181A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 440380	NM_019076.5(UGT1A8):c.856-73478A>C	UGT1A, UGT1A10 +4 more (R184S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 994217	NM_001072.4(UGT1A6):c.554G>A (p.Ser185Asn)	UGT1A7, UGT1A8 +4 more (S185N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 995670	NM_001072.4(UGT1A6):c.557C>T (p.Pro186Leu)	UGT1A, UGT1A10 +4 more (P186L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690420	NM_001072.4(UGT1A6):c.622C>T (p.Arg208Ter)	UGT1A, UGT1A10 +4 more (R208*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2377504	NM_001072.4(UGT1A6):c.623G>A (p.Arg208Gln)	UGT1A, UGT1A10 +4 more (R208Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 440382	NM_019076.5(UGT1A8):c.856-73403G>T	UGT1A, UGT1A10 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3330835	NM_001072.4(UGT1A6):c.661C>A (p.Leu221Ile)	UGT1A, UGT1A10 +4 more (L221I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186112	NM_001072.4(UGT1A6):c.713A>G (p.Lys238Arg)	UGT1A, UGT1A10 +4 more (K238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186113	NM_001072.4(UGT1A6):c.731T>A (p.Ile244Asn)	UGT1A, UGT1A10 +4 more (I244N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330834	NM_001072.4(UGT1A6):c.740A>G (p.Tyr247Cys)	UGT1A, UGT1A10 +4 more (Y247C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538376	NM_001072.4(UGT1A6):c.754G>T (p.Val252Phe)	UGT1A, UGT1A10 +4 more (V252F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608310	NM_001072.4(UGT1A6):c.831C>G (p.Ile277Met)	UGT1A, UGT1A10 +4 more (I277M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218190	NM_019078.2(UGT1A5):c.13C>A (p.Leu5Ile)	UGT1A, UGT1A10 +5 more (L5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615931	NM_019078.2(UGT1A5):c.23C>T (p.Pro8Leu)	UGT1A8, UGT1A9 +5 more (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186108	NM_019078.2(UGT1A5):c.134G>A (p.Arg45Gln)	UGT1A, UGT1A10 +5 more (R45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496017	NM_019078.2(UGT1A5):c.160A>G (p.Arg54Gly)	UGT1A, UGT1A10 +5 more (R54G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779229	NM_019078.2(UGT1A5):c.261C>T (p.Asp87=)	UGT1A, UGT1A10 +5 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2518787	NM_019078.2(UGT1A5):c.380C>G (p.Ser127Cys)	UGT1A, UGT1A10 +5 more (S127C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186109	NM_019078.2(UGT1A5):c.400A>G (p.Asn134Asp)	UGT1A, UGT1A10 +5 more (N134D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374653	NM_019078.2(UGT1A5):c.496T>C (p.Ser166Pro)	UGT1A, UGT1A10 +5 more (S166P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514875	NM_019078.2(UGT1A5):c.520A>G (p.Arg174Gly)	UGT1A, UGT1A10 +5 more (R174G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 585111	NM_019078.2(UGT1A5):c.695del (p.Ala232fs)	UGT1A, UGT1A10 +5 more (A232fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2529440	NM_019078.2(UGT1A5):c.720G>C (p.Gln240His)	UGT1A, UGT1A10 +5 more (Q240H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770344	NM_019078.2(UGT1A5):c.742C>A (p.Leu248Ile)	UGT1A, UGT1A10 +5 more (L248I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 770345	NM_019078.2(UGT1A5):c.745G>C (p.Val249Leu)	UGT1A, UGT1A10 +5 more (V249L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2600692	NM_019078.2(UGT1A5):c.773G>A (p.Arg258Gln)	UGT1A, UGT1A10 +5 more (R258Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770346	NM_019076.5(UGT1A8):c.856-53268G>C	UGT1A, UGT1A10 +5 more (G259R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 770347	NM_019078.2(UGT1A5):c.783T>C (p.Phe261=)	UGT1A, UGT1A10 +5 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 715222	NM_019078.2(UGT1A5):c.849C>T (p.Asn283=)	UGT1A, UGT1A10 +5 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 218787	NM_021027.3(UGT1A9):c.855+45828G>A	UGT1A, UGT1A10 +5 more	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2552288	NM_007120.3(UGT1A4):c.11G>A (p.Gly4Glu)	UGT1A, UGT1A10 +6 more (G4E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467004	NM_007120.3(UGT1A4):c.32G>A (p.Arg11Gln)	UGT1A, UGT1A10 +6 more (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2652020	NM_007120.3(UGT1A4):c.42A>G (p.Thr14=)	UGT1A, UGT1A10 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3186101	NM_007120.3(UGT1A4):c.44G>T (p.Gly15Val)	UGT1A, UGT1A10 +6 more (G15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366407	NM_007120.3(UGT1A4):c.53T>A (p.Leu18His)	UGT1A, UGT1A10 +6 more (L18H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186104	NM_007120.3(UGT1A4):c.65T>C (p.Val22Ala)	UGT1A, UGT1A10 +6 more (V22A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406536	NM_007120.3(UGT1A4):c.140C>T (p.Ala47Val)	UGT1A, UGT1A10 +6 more (A47V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2672867	NM_007120.3(UGT1A4):c.150G>C (p.Glu50Asp)	UGT1A, UGT1A10 +6 more (E50D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3186099	NM_007120.3(UGT1A4):c.157G>T (p.Ala53Ser)	UGT1A, UGT1A10 +6 more (A53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297777	NM_007120.3(UGT1A4):c.158C>G (p.Ala53Gly)	UGT1A, UGT1A10 +6 more (A53G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186100	NM_007120.3(UGT1A4):c.167A>G (p.His56Arg)	UGT1A, UGT1A10 +6 more (H56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465817	NM_007120.3(UGT1A4):c.257A>G (p.Gln86Arg)	UGT1A, UGT1A10 +6 more (Q86R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459401	NM_007120.3(UGT1A4):c.274G>A (p.Val92Ile)	UGT1A, UGT1A10 +6 more (V92I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483405	NM_007120.3(UGT1A4):c.295G>C (p.Gly99Arg)	UGT1A, UGT1A10 +6 more (G99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467792	NM_007120.3(UGT1A4):c.334A>G (p.Arg112Gly)	UGT1A, UGT1A10 +6 more (R112G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495923	NM_007120.3(UGT1A4):c.348T>G (p.Ile116Met)	UGT1A, UGT1A10 +6 more (I116M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186103	NM_007120.3(UGT1A4):c.460G>T (p.Val154Phe)	UGT1A, UGT1A10 +6 more (V154F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366207	NM_007120.3(UGT1A4):c.476C>T (p.Ala159Val)	UGT1A, UGT1A10 +6 more (A159V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309708	NM_007120.3(UGT1A4):c.685G>T (p.Ala229Ser)	UGT1A, UGT1A10 +6 more (A229S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652021	NM_007120.3(UGT1A4):c.699T>C (p.Ser233=)	UGT1A, UGT1A10 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3186105	NM_007120.3(UGT1A4):c.711G>C (p.Glu237Asp)	UGT1A, UGT1A10 +6 more (E237D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464085	NM_007120.3(UGT1A4):c.745G>C (p.Val249Leu)	UGT1A, UGT1A10 +6 more (V249L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2464086	NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His)	UGT1A, UGT1A10 +6 more (Y251H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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