ClinVar for Gene (Select 23303) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658510	NM_015254.4(KIF13B):c.876T>C (p.Asp292=)	KIF13B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658509	NM_015254.4(KIF13B):c.3189G>A (p.Pro1063=)	KIF13B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622258	NM_015254.4(KIF13B):c.1954C>T (p.Arg652Trp)	KIF13B (R652W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616679	NM_015254.4(KIF13B):c.4121A>G (p.Lys1374Arg)	KIF13B (K1374R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614560	NM_015254.4(KIF13B):c.5378C>T (p.Thr1793Ile)	KIF13B (T1793I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606704	NM_015254.4(KIF13B):c.3131T>C (p.Leu1044Ser)	KIF13B (L1044S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601226	NM_015254.4(KIF13B):c.782C>T (p.Thr261Met)	KIF13B (T261M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598703	NM_015254.4(KIF13B):c.4894C>T (p.Arg1632Trp)	KIF13B (R1632W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594276	NM_015254.4(KIF13B):c.2440G>A (p.Val814Met)	KIF13B (V814M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590311	NM_015254.4(KIF13B):c.1135C>T (p.Arg379Trp)	KIF13B (R379W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588561	NM_015254.4(KIF13B):c.5125G>A (p.Val1709Met)	KIF13B (V1709M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2567053	NM_015254.4(KIF13B):c.5123C>G (p.Thr1708Ser)	KIF13B (T1708S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557829	NM_015254.4(KIF13B):c.4996G>T (p.Asp1666Tyr)	KIF13B (D1666Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552813	NM_015254.4(KIF13B):c.87T>G (p.Asp29Glu)	KIF13B (D29E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537711	NM_015254.4(KIF13B):c.3755G>A (p.Arg1252His)	KIF13B (R1252H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536636	NM_015254.4(KIF13B):c.1693G>A (p.Glu565Lys)	KIF13B (E565K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532613	NM_015254.4(KIF13B):c.2926C>T (p.Arg976Cys)	KIF13B (R976C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529694	NM_015254.4(KIF13B):c.4033A>G (p.Arg1345Gly)	KIF13B (R1345G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527681	NM_015254.4(KIF13B):c.1774G>A (p.Ala592Thr)	KIF13B (A592T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525196	NM_015254.4(KIF13B):c.2042A>C (p.Asn681Thr)	KIF13B (N681T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521167	NM_015254.4(KIF13B):c.68A>G (p.His23Arg)	KIF13B (H23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516042	NM_015254.4(KIF13B):c.4489A>G (p.Ser1497Gly)	KIF13B (S1497G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2485315	NM_015254.4(KIF13B):c.4493C>A (p.Pro1498Gln)	KIF13B (P1498Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481432	NM_015254.4(KIF13B):c.3715A>G (p.Arg1239Gly)	KIF13B (R1239G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478643	NM_015254.4(KIF13B):c.5303G>T (p.Arg1768Leu)	KIF13B (R1768L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473801	NM_015254.4(KIF13B):c.3931G>C (p.Asp1311His)	KIF13B (D1311H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472365	NM_015254.4(KIF13B):c.4652C>T (p.Pro1551Leu)	KIF13B (P1551L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471949	NM_015254.4(KIF13B):c.2195C>T (p.Ser732Phe)	KIF13B (S732F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464862	NM_015254.4(KIF13B):c.5146G>T (p.Val1716Leu)	KIF13B (V1716L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402742	NM_015254.4(KIF13B):c.4892G>C (p.Gly1631Ala)	KIF13B (G1631A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394563	NM_015254.4(KIF13B):c.47A>T (p.Asn16Ile)	KIF13B, LOC130000132 (N16I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391390	NM_015254.4(KIF13B):c.2326G>A (p.Asp776Asn)	KIF13B (D776N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386684	NM_015254.4(KIF13B):c.4846G>A (p.Val1616Ile)	KIF13B (V1616I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385759	NM_015254.4(KIF13B):c.1627A>C (p.Asn543His)	KIF13B (N543H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374119	NM_015254.4(KIF13B):c.5167G>T (p.Ala1723Ser)	KIF13B (A1723S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370488	NM_015254.4(KIF13B):c.1180A>C (p.Lys394Gln)	KIF13B (K394Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367258	NM_015254.4(KIF13B):c.4831C>T (p.Pro1611Ser)	KIF13B (P1611S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365981	NM_015254.4(KIF13B):c.2740G>A (p.Val914Ile)	KIF13B (V914I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364615	NM_015254.4(KIF13B):c.3829G>A (p.Gly1277Ser)	KIF13B (G1277S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357097	NM_015254.4(KIF13B):c.5420C>A (p.Ala1807Asp)	KIF13B (A1807D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357096	NM_015254.4(KIF13B):c.5419G>A (p.Ala1807Thr)	KIF13B (A1807T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356997	NM_015254.4(KIF13B):c.305A>G (p.Tyr102Cys)	KIF13B (Y102C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346170	NM_015254.4(KIF13B):c.3349C>T (p.Arg1117Cys)	KIF13B (R1117C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340671	NM_015254.4(KIF13B):c.3626T>C (p.Phe1209Ser)	KIF13B (F1209S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340279	NM_015254.4(KIF13B):c.4969C>G (p.Arg1657Gly)	KIF13B (R1657G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339578	NM_015254.4(KIF13B):c.5327G>C (p.Arg1776Pro)	KIF13B (R1776P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337090	NM_015254.4(KIF13B):c.2407G>A (p.Ala803Thr)	KIF13B (A803T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334891	NM_015254.4(KIF13B):c.2399T>C (p.Ile800Thr)	KIF13B (I800T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333337	NM_015254.4(KIF13B):c.1193A>T (p.Glu398Val)	KIF13B (E398V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332644	NM_015254.4(KIF13B):c.1632G>T (p.Leu544Phe)	KIF13B (L544F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330005	NM_015254.4(KIF13B):c.959G>T (p.Gly320Val)	KIF13B (G320V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328568	NM_015254.4(KIF13B):c.1960A>G (p.Met654Val)	KIF13B (M654V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328296	NM_015254.4(KIF13B):c.4463T>C (p.Val1488Ala)	KIF13B (V1488A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326172	NM_015254.4(KIF13B):c.1837A>G (p.Ser613Gly)	KIF13B (S613G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323363	NM_015254.4(KIF13B):c.5074G>A (p.Glu1692Lys)	KIF13B (E1692K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315536	NM_015254.4(KIF13B):c.2527G>A (p.Asp843Asn)	KIF13B (D843N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307138	NM_015254.4(KIF13B):c.2823T>A (p.His941Gln)	KIF13B (H941Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303344	NM_015254.4(KIF13B):c.3383C>T (p.Ala1128Val)	KIF13B (A1128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299759	NM_015254.4(KIF13B):c.4107A>C (p.Leu1369Phe)	KIF13B (L1369F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290339	NM_015254.4(KIF13B):c.973G>A (p.Ala325Thr)	KIF13B (A325T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271907	NM_015254.4(KIF13B):c.1013A>G (p.Asp338Gly)	KIF13B (D338G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271204	NM_015254.4(KIF13B):c.4265G>T (p.Gly1422Val)	KIF13B (G1422V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268905	NM_015254.4(KIF13B):c.3972G>A (p.Met1324Ile)	KIF13B (M1324I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266806	NM_015254.4(KIF13B):c.212A>G (p.Glu71Gly)	KIF13B (E71G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251577	NM_015254.4(KIF13B):c.1990G>A (p.Ala664Thr)	KIF13B (A664T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233597	NM_015254.4(KIF13B):c.3154C>A (p.Leu1052Met)	KIF13B (L1052M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225096	NM_015254.4(KIF13B):c.1685T>C (p.Met562Thr)	KIF13B (M562T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220515	NM_015254.4(KIF13B):c.4981C>A (p.Arg1661Ser)	KIF13B (R1661S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217733	NM_015254.4(KIF13B):c.3356A>T (p.Lys1119Ile)	KIF13B (K1119I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217536	NM_015254.4(KIF13B):c.3460C>G (p.Pro1154Ala)	KIF13B (P1154A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214060	NM_015254.4(KIF13B):c.4669C>G (p.Pro1557Ala)	KIF13B (P1557A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214020	NM_015254.4(KIF13B):c.4128C>G (p.Ser1376Arg)	KIF13B (S1376R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206478	NM_015254.4(KIF13B):c.1486G>A (p.Asp496Asn)	KIF13B (D496N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 792105	NM_015254.4(KIF13B):c.3821A>G (p.Asn1274Ser)	KIF13B (N1274S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776311	NM_015254.4(KIF13B):c.4440G>A (p.Pro1480=)	KIF13B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712473	NM_015254.4(KIF13B):c.5156A>G (p.Tyr1719Cys)	KIF13B (Y1719C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 685669	GRCh37/hg19 8p12(chr8:29103983-35728509)x1	DCTN6, DUSP26 +20 more	Copy number loss	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ADAM28, ADAM7 +129 more	Copy number gain	See cases	GPathogenic

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