ClinVar for Gene (Select 154664) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 420

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094050	NM_152701.5(ABCA13):c.9994C>A (p.Gln3332Lys)	ABCA13 (Q3332K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093965	NM_152701.5(ABCA13):c.9920G>C (p.Trp3307Ser)	ABCA13 (W3307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093921	NM_152701.5(ABCA13):c.9877C>G (p.Leu3293Val)	ABCA13 (L3293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093828	NM_152701.5(ABCA13):c.9854A>C (p.Asp3285Ala)	ABCA13 (D3285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093754	NM_152701.5(ABCA13):c.979C>T (p.His327Tyr)	ABCA13 (H327Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093696	NM_152701.5(ABCA13):c.9719G>C (p.Gly3240Ala)	ABCA13 (G3240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093662	NM_152701.5(ABCA13):c.9584C>A (p.Ala3195Asp)	ABCA13 (A3195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093548	NM_152701.5(ABCA13):c.9421G>T (p.Ala3141Ser)	ABCA13 (A3141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093520	NM_152701.5(ABCA13):c.9410A>G (p.Lys3137Arg)	ABCA13 (K3137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093439	NM_152701.5(ABCA13):c.9343G>A (p.Val3115Ile)	ABCA13 (V3115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093413	NM_152701.5(ABCA13):c.9322G>C (p.Val3108Leu)	ABCA13 (V3108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093343	NM_152701.5(ABCA13):c.9124G>A (p.Ala3042Thr)	ABCA13 (A3042T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093305	NM_152701.5(ABCA13):c.9106C>G (p.Gln3036Glu)	ABCA13 (Q3036E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093224	NM_152701.5(ABCA13):c.9067C>A (p.Gln3023Lys)	ABCA13 (Q3023K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093181	NM_152701.5(ABCA13):c.8922A>G (p.Ile2974Met)	ABCA13 (I2974M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093018	NM_152701.5(ABCA13):c.830A>G (p.Lys277Arg)	ABCA13 (K277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092986	NM_152701.5(ABCA13):c.8251A>G (p.Lys2751Glu)	ABCA13 (K2751E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092903	NM_152701.5(ABCA13):c.811A>G (p.Lys271Glu)	ABCA13 (K271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092872	NM_152701.5(ABCA13):c.8040C>G (p.Cys2680Trp)	ABCA13 (C2680W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092831	NM_152701.5(ABCA13):c.8011G>A (p.Val2671Ile)	ABCA13 (V2671I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092807	NM_152701.5(ABCA13):c.7988C>T (p.Thr2663Ile)	ABCA13 (T2663I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092788	NM_152701.5(ABCA13):c.7978A>C (p.Asn2660His)	ABCA13 (N2660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092708	NM_152701.5(ABCA13):c.7941G>A (p.Met2647Ile)	ABCA13 (M2647I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092658	NM_152701.5(ABCA13):c.7898A>T (p.Asp2633Val)	ABCA13 (D2633V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092505	NM_152701.5(ABCA13):c.7715A>T (p.Glu2572Val)	ABCA13 (E2572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092423	NM_152701.5(ABCA13):c.7627C>G (p.His2543Asp)	ABCA13 (H2543D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092141	NM_152701.5(ABCA13):c.7244T>C (p.Leu2415Pro)	ABCA13 (L2415P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092116	NM_152701.5(ABCA13):c.7225C>G (p.Leu2409Val)	ABCA13 (L2409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091952	NM_152701.5(ABCA13):c.7123A>G (p.Met2375Val)	ABCA13 (M2375V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091930	NM_152701.5(ABCA13):c.7082T>A (p.Phe2361Tyr)	ABCA13 (F2361Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091861	NM_152701.5(ABCA13):c.6958A>G (p.Met2320Val)	ABCA13 (M2320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091362	NM_152701.5(ABCA13):c.6062A>G (p.Asn2021Ser)	ABCA13 (N2021S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091319	NM_152701.5(ABCA13):c.604G>T (p.Ala202Ser)	ABCA13 (A202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091215	NM_152701.5(ABCA13):c.5671C>A (p.His1891Asn)	ABCA13 (H1891N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091187	NM_152701.5(ABCA13):c.5648C>T (p.Thr1883Ile)	ABCA13 (T1883I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091026	NM_152701.5(ABCA13):c.5374G>A (p.Ala1792Thr)	ABCA13 (A1792T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090993	NM_152701.5(ABCA13):c.5373C>A (p.Phe1791Leu)	ABCA13 (F1791L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090728	NM_152701.5(ABCA13):c.4880C>T (p.Ala1627Val)	ABCA13 (A1627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090702	NM_152701.5(ABCA13):c.4870A>T (p.Ile1624Leu)	ABCA13 (I1624L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090415	NM_152701.5(ABCA13):c.4512C>G (p.Ile1504Met)	ABCA13 (I1504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090384	NM_152701.5(ABCA13):c.4498G>C (p.Val1500Leu)	ABCA13 (V1500L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090322	NM_152701.5(ABCA13):c.4378A>G (p.Asn1460Asp)	ABCA13 (N1460D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090298	NM_152701.5(ABCA13):c.4354A>G (p.Asn1452Asp)	ABCA13 (N1452D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090269	NM_152701.5(ABCA13):c.4330A>G (p.Ile1444Val)	ABCA13 (I1444V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090168	NM_152701.5(ABCA13):c.425G>A (p.Arg142Gln)	ABCA13 (R142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090121	NM_152701.5(ABCA13):c.4118G>A (p.Arg1373His)	ABCA13 (R1373H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090109	NM_152701.5(ABCA13):c.4117C>T (p.Arg1373Cys)	ABCA13 (R1373C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090045	NM_152701.5(ABCA13):c.3994G>A (p.Val1332Ile)	ABCA13 (V1332I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090014	NM_152701.5(ABCA13):c.3958T>C (p.Phe1320Leu)	ABCA13 (F1320L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089956	NM_152701.5(ABCA13):c.3740A>T (p.Lys1247Ile)	ABCA13 (K1247I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089666	NM_152701.5(ABCA13):c.3328G>A (p.Val1110Ile)	ABCA13 (V1110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089613	NM_152701.5(ABCA13):c.3091C>G (p.Gln1031Glu)	ABCA13 (Q1031E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089590	NM_152701.5(ABCA13):c.3077A>G (p.Asn1026Ser)	ABCA13 (N1026S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089513	NM_152701.5(ABCA13):c.3034G>A (p.Ala1012Thr)	ABCA13 (A1012T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089477	NM_152701.5(ABCA13):c.2997A>G (p.Ile999Met)	ABCA13 (I999M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089366	NM_152701.5(ABCA13):c.2739C>G (p.Ile913Met)	ABCA13 (I913M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089339	NM_152701.5(ABCA13):c.2728C>G (p.Gln910Glu)	ABCA13 (Q910E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089261	NM_152701.5(ABCA13):c.257G>T (p.Ser86Ile)	ABCA13 (S86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089095	NM_152701.5(ABCA13):c.2407A>C (p.Lys803Gln)	ABCA13 (K803Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088976	NM_152701.5(ABCA13):c.2183A>T (p.Glu728Val)	ABCA13 (E728V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088746	NM_152701.5(ABCA13):c.1738G>C (p.Glu580Gln)	ABCA13 (E580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088709	NM_152701.5(ABCA13):c.1655A>G (p.Asp552Gly)	ABCA13 (D552G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088618	NM_152701.5(ABCA13):c.1592T>G (p.Leu531Arg)	ABCA13, LOC126860027 (L531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088529	NM_152701.5(ABCA13):c.14843G>T (p.Gly4948Val)	ABCA13 (G4948V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088487	NM_152701.5(ABCA13):c.14794G>A (p.Gly4932Ser)	ABCA13 (G4932S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088331	NM_152701.5(ABCA13):c.14528G>A (p.Arg4843His)	ABCA13 (R4843H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088301	NM_152701.5(ABCA13):c.1435T>C (p.Phe479Leu)	ABCA13, LOC126860027 (F479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088265	NM_152701.5(ABCA13):c.14338A>G (p.Ile4780Val)	ABCA13 (I4780V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088104	NM_152701.5(ABCA13):c.14071G>A (p.Gly4691Ser)	ABCA13 (G4691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088010	NM_152701.5(ABCA13):c.1388A>G (p.Gln463Arg)	ABCA13 (Q463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087946	NM_152701.5(ABCA13):c.13876G>C (p.Glu4626Gln)	ABCA13 (E4626Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087915	NM_152701.5(ABCA13):c.13856G>C (p.Cys4619Ser)	ABCA13 (C4619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087694	NM_152701.5(ABCA13):c.13561G>A (p.Val4521Ile)	ABCA13 (V4521I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3087543	NM_152701.5(ABCA13):c.13404C>G (p.Ile4468Met)	ABCA13 (I4468M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087485	NM_152701.5(ABCA13):c.13325C>G (p.Ala4442Gly)	ABCA13 (A4442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087112	NM_152701.5(ABCA13):c.12802A>G (p.Thr4268Ala)	ABCA13 (T4268A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086886	NM_152701.5(ABCA13):c.12581G>C (p.Arg4194Pro)	ABCA13 (R4194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086826	NM_152701.5(ABCA13):c.12470T>C (p.Met4157Thr)	ABCA13 (M4157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086702	NM_152701.5(ABCA13):c.12229C>T (p.Pro4077Ser)	ABCA13 (P4077S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086670	NM_152701.5(ABCA13):c.12209G>A (p.Arg4070His)	ABCA13 (R4070H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086504	NM_152701.5(ABCA13):c.12116C>T (p.Ala4039Val)	ABCA13 (A4039V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086483	NM_152701.5(ABCA13):c.12082A>G (p.Ile4028Val)	ABCA13 (I4028V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086441	NM_152701.5(ABCA13):c.12004C>G (p.Pro4002Ala)	ABCA13 (P4002A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086408	NM_152701.5(ABCA13):c.11887G>A (p.Val3963Met)	ABCA13 (V3963M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086314	NM_152701.5(ABCA13):c.11804A>G (p.His3935Arg)	ABCA13 (H3935R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086258	NM_152701.5(ABCA13):c.11749C>G (p.Leu3917Val)	ABCA13 (L3917V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086148	NM_152701.5(ABCA13):c.11486A>C (p.Gln3829Pro)	ABCA13 (Q3829P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086041	NM_152701.5(ABCA13):c.11410G>C (p.Glu3804Gln)	ABCA13 (E3804Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086000	NM_152701.5(ABCA13):c.11197G>A (p.Glu3733Lys)	ABCA13 (E3733K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085930	NM_152701.5(ABCA13):c.10975A>T (p.Met3659Leu)	ABCA13 (M3659L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085905	NM_152701.5(ABCA13):c.1088G>A (p.Ser363Asn)	ABCA13 (S363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085808	NM_152701.5(ABCA13):c.10808T>C (p.Met3603Thr)	ABCA13 (M3603T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085747	NM_152701.5(ABCA13):c.10782G>T (p.Glu3594Asp)	ABCA13 (E3594D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085252	NM_152701.5(ABCA13):c.10365G>C (p.Gln3455His)	ABCA13 (Q3455H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085205	NM_152701.5(ABCA13):c.10302C>A (p.Asn3434Lys)	ABCA13 (N3434K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067184	NM_152701.5(ABCA13):c.927G>T (p.Met309Ile)	ABCA13 (M309I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3051732	NM_152701.5(ABCA13):c.12459+1G>T	ABCA13	Single nucleotide variant (splice donor variant)	ABCA13-related condition	GLikely benign
Select item 3049611	NM_152701.5(ABCA13):c.4078G>A (p.Asp1360Asn)	ABCA13 (D1360N)	Single nucleotide variant (missense variant)	ABCA13-related condition	GLikely benign
Select item 3047587	NM_152701.5(ABCA13):c.1150G>A (p.Glu384Lys)	ABCA13 (E384K)	Single nucleotide variant (missense variant)	ABCA13-related condition	GLikely benign
Select item 3045753	NM_152701.5(ABCA13):c.13768C>T (p.Arg4590Trp)	ABCA13 (R4590W)	Single nucleotide variant (missense variant)	ABCA13-related condition	GLikely benign

<< First< Prev

Page of 5