57167[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 389

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 148190	GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1	ADNP, ADNP-AS1 +63 more	Copy number loss	See cases	GPathogenic
Select item 3327	NC_000020.11:g.(51758515_51770114)_(51894383_?)del	ATP9A, LINC01429 +2 more	Deletion	Duane-radial ray syndrome	GPathogenic
Select item 3061842	GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1	SALL4	Copy number loss	Duane-radial ray syndrome	GUncertain significance
Select item 1233920	NM_020436.5(SALL4):c.244_245dup	SALL4	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1190265	NM_020436.5(SALL4):c.*245del	SALL4	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1296361	NM_020436.5(SALL4):c.*211dup	SALL4	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1278396	NM_020436.5(SALL4):c.*125T>A	SALL4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 497750	NM_020436.5(SALL4):c.3161A>G (p.Ter1054=)	SALL4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 500281	NM_020436.5(SALL4):c.3153G>A (p.Ala1051=)	SALL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2745399	NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)	SALL4 (A1051V +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 2312228	NM_020436.5(SALL4):c.3128A>C (p.His1043Pro)	SALL4 (H1043P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2703008	NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)	SALL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 674937	NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser)	SALL4 (G1035S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2407371	NM_020436.5(SALL4):c.3098C>T (p.Thr1033Ile)	SALL4 (T1033I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 856853	NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala)	SALL4 (T1033A +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 767016	NM_020436.5(SALL4):c.3096T>C (p.Ala1032=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 940159	NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly)	SALL4 (V1027G +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 3316061	NM_020436.5(SALL4):c.3076G>T (p.Asp1026Tyr)	SALL4 (D1026Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380344	NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)	SALL4 (S1021L +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2580907	NM_020436.5(SALL4):c.3058del (p.Gln1020fs)	SALL4 (Q1020fs +1 more)	Deletion (frameshift variant)	Duane-radial ray syndrome	GLikely pathogenic
Select item 2830167	NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr)	SALL4 (A574T +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1955143	NM_020436.5(SALL4):c.3030C>T (p.Asn1010=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 1314754	NM_020436.5(SALL4):c.3010del (p.Ala1004fs)	SALL4 (A1004fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2813402	NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe)	SALL4 (S564F +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 739653	NM_020436.5(SALL4):c.2991C>T (p.Thr997=)	SALL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370536	NM_020436.5(SALL4):c.2984T>G (p.Val995Gly)	SALL4 (V995G +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2581917	NM_020436.5(SALL4):c.2983del (p.Val995fs)	SALL4 (V558fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2733149	NM_020436.5(SALL4):c.2982G>T (p.Gly994=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +1 more	GLikely benign
Select item 2894201	NM_020436.5(SALL4):c.2980G>A (p.Gly994Arg)	SALL4 (G557R +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1683703	NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp)	SALL4 (G556W +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 1373144	NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg)	SALL4 (G993R +1 more)	Single nucleotide variant (missense variant)	Oculootoradial syndrome +1 more	GUncertain significance
Select item 197323	NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg)	SALL4 (G993R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2701971	NM_020436.5(SALL4):c.2944G>A (p.Val982Met)	SALL4 (V545M +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1176429	NM_020436.5(SALL4):c.2935G>A (p.Gly979Ser)	SALL4 (G542S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041050	NM_020436.5(SALL4):c.2916C>T (p.Tyr972=)	SALL4	Single nucleotide variant (synonymous variant)	SALL4-related disorder	GLikely benign
Select item 711448	NM_020436.5(SALL4):c.2913G>A (p.Gln971=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +2 more	GLikely benign
Select item 1309665	NM_020436.5(SALL4):c.2899G>A (p.Val967Ile)	SALL4 (V530I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3157617	NM_020436.5(SALL4):c.2873T>A (p.Leu958Gln)	SALL4 (L958Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2024717	NM_020436.5(SALL4):c.2872C>T (p.Leu958=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 3356004	NM_020436.5(SALL4):c.2860C>T (p.Pro954Ser)	SALL4 (P517S +1 more)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 423567	NM_020436.5(SALL4):c.2848_2849delinsAA (p.Ser950Lys)	SALL4 (S950K +1 more)	Indel (missense variant)	not specified	GUncertain significance
Select item 504073	NM_020436.5(SALL4):c.2841_2842del (p.Arg948fs)	SALL4 (R948fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 509052	NM_020436.5(SALL4):c.2835C>T (p.Asp945=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +2 more	GBenign/Likely benign
Select item 1174696	NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn)	SALL4 (D508N +1 more)	Single nucleotide variant (missense variant)	Oculootoradial syndrome +1 more	GUncertain significance
Select item 3033985	NM_020436.5(SALL4):c.2831C>T (p.Thr944Met)	SALL4 (T507M +1 more)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 1462053	NM_020436.5(SALL4):c.2816T>G (p.Met939Arg)	SALL4 (M939R +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2293816	NM_020436.5(SALL4):c.2809A>C (p.Asn937His)	SALL4 (N937H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312216	NM_020436.5(SALL4):c.2806G>A (p.Glu936Lys)	SALL4 (E499K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682463	NM_020436.5(SALL4):c.2803A>G (p.Ile935Val)	SALL4 (I498V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338762	NM_020436.5(SALL4):c.2792G>A (p.Arg931Lys)	SALL4 (R494K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630372	NM_020436.5(SALL4):c.2788_2789delinsC (p.Gly930fs)	SALL4 (G493fs +1 more)	Indel (frameshift variant)	SALL4-related disorder	GUncertain significance
Select item 2471177	NM_020436.5(SALL4):c.2786G>A (p.Arg929His)	SALL4 (R492H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872737	NM_020436.5(SALL4):c.2783G>A (p.Arg928His)	SALL4 (R491H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753344	NM_020436.5(SALL4):c.2782C>T (p.Arg928Cys)	SALL4 (R491C +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2747079	NM_020436.5(SALL4):c.2765C>T (p.Ala922Val)	SALL4 (A485V +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2086094	NM_020436.5(SALL4):c.2743-3T>C	SALL4	Single nucleotide variant (intron variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2056237	NM_020436.5(SALL4):c.2743-5C>T	SALL4	Single nucleotide variant (intron variant)	Duane-radial ray syndrome	GLikely benign
Select item 1242613	NM_020436.5(SALL4):c.2743-132C>T	SALL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264542	NM_020436.5(SALL4):c.2743-153C>G	SALL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204362	NM_020436.5(SALL4):c.2742+314G>A	SALL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240411	NM_020436.5(SALL4):c.2742+209C>G	SALL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247821	NM_020436.5(SALL4):c.2742+158A>G	SALL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2053178	NM_020436.5(SALL4):c.2742+16C>T	SALL4	Single nucleotide variant (intron variant)	Duane-radial ray syndrome	GBenign
Select item 722237	NM_020436.5(SALL4):c.2742+7T>C	SALL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3328	NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter)	SALL4 (R905* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1406494	NM_020436.5(SALL4):c.2704A>G (p.Ile902Val)	SALL4 (I465V +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1570973	NM_020436.5(SALL4):c.2673T>C (p.Thr891=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 3157616	NM_020436.5(SALL4):c.2672C>T (p.Thr891Ile)	SALL4 (T891I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 850032	NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp)	SALL4 (R890W +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1148183	NM_020436.5(SALL4):c.2664C>T (p.His888=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 3329	NM_020436.5(SALL4):c.2663A>G (p.His888Arg)	SALL4 (H888R +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GPathogenic
Select item 725355	NM_020436.5(SALL4):c.2649C>T (p.Ser883=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GBenign
Select item 3364939	NM_020436.5(SALL4):c.2640_2642del (p.Ser881del)	SALL4 (S444del +1 more)	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 338764	NM_020436.5(SALL4):c.2640G>A (p.Ser880=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 261263	NM_020436.5(SALL4):c.2640G>C (p.Ser880=)	SALL4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3330	NM_020436.5(SALL4):c.2607del (p.Gln869fs)	SALL4 (Q432fs +1 more)	Deletion (frameshift variant)	Oculootoradial syndrome	GPathogenic
Select item 2290046	NM_020436.5(SALL4):c.2606A>C (p.Gln869Pro)	SALL4 (Q869P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635209	NM_020436.5(SALL4):c.2594G>T (p.Arg865Leu)	SALL4 (R428L +1 more)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 3322	NM_020436.5(SALL4):c.2593C>T (p.Arg865Ter)	SALL4 (R865* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 591080	NM_020436.5(SALL4):c.2591_2592delinsTT (p.Arg864Leu)	SALL4 (R427L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1370519	NM_020436.5(SALL4):c.2590C>T (p.Arg864Cys)	SALL4 (R427C +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 3157615	NM_020436.5(SALL4):c.2555C>T (p.Ser852Phe)	SALL4 (S415F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652411	NM_020436.5(SALL4):c.2502G>A (p.Pro834=)	SALL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922212	NM_020436.5(SALL4):c.2501C>T (p.Pro834Leu)	SALL4 (P834L +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 3002207	NM_020436.5(SALL4):c.2496C>T (p.Ala832=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 338765	NM_020436.5(SALL4):c.2493A>G (p.Arg831=)	SALL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 381683	NM_020436.5(SALL4):c.2491C>T (p.Arg831Ter)	SALL4 (R831* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 281638	NM_020436.5(SALL4):c.2483C>T (p.Thr828Met)	SALL4 (T828M +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +3 more	GConflicting classifications of pathogenicity
Select item 283195	NM_020436.5(SALL4):c.2482A>T (p.Thr828Ser)	SALL4 (T828S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030771	NM_020436.5(SALL4):c.2477C>G (p.Pro826Arg)	SALL4 (P389R +1 more)	Single nucleotide variant (missense variant)	SALL4-related disorder	GUncertain significance
Select item 3157614	NM_020436.5(SALL4):c.2465G>A (p.Arg822Gln)	SALL4 (R822Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804244	NM_020436.5(SALL4):c.2462-12T>C	SALL4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2201464	NM_020436.5(SALL4):c.2462-13C>T	SALL4	Single nucleotide variant (intron variant)	Duane-radial ray syndrome	GLikely benign
Select item 1266995	NM_020436.5(SALL4):c.2462-49A>T	SALL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209035	NM_020436.5(SALL4):c.2462-207del	SALL4	Deletion (intron variant)	not provided	GLikely benign
Select item 1239739	NM_020436.5(SALL4):c.2462-292T>C	SALL4	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 4