57466[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59011	GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1	HUNK, LINC00159 +27 more	Copy number loss	See cases	GPathogenic
Select item 1802147	NM_000454.5(SOD1):c.272A>T (p.Asp91Val)	SCAF4, SOD1 (D91V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 3158174	NM_020706.2(SCAF4):c.3440G>A (p.Arg1147His)	SCAF4 (R1147H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158173	NM_020706.2(SCAF4):c.3439C>T (p.Arg1147Cys)	SCAF4 (R1147C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3316332	NM_020706.2(SCAF4):c.3436C>T (p.Pro1146Ser)	SCAF4 (P1146S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637218	NM_020706.2(SCAF4):c.3426del (p.Ala1143fs)	SCAF4 (A1121fs +2 more)	Deletion (frameshift variant)	SCAF4-related disorder	GUncertain significance
Select item 3158172	NM_020706.2(SCAF4):c.3347C>T (p.Ala1116Val)	SCAF4 (A1094V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068680	NM_020706.2(SCAF4):c.3254_3257del (p.Asp1085fs)	SCAF4 (D1063fs +2 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GLikely benign
Select item 3367922	NM_020706.2(SCAF4):c.3224C>A (p.Ala1075Asp)	SCAF4 (A1053D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443343	NM_020706.2(SCAF4):c.3212_3215del (p.Glu1071fs)	SCAF4 (E1049fs +2 more)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 1446058	NM_020706.2(SCAF4):c.3200A>T (p.Glu1067Val)	SCAF4 (E1052V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316334	NM_020706.2(SCAF4):c.3186T>G (p.Asp1062Glu)	SCAF4 (D1040E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539284	NM_020706.2(SCAF4):c.3178G>C (p.Glu1060Gln)	SCAF4 (E1045Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343268	NM_020706.2(SCAF4):c.3176G>C (p.Arg1059Thr)	SCAF4 (R1037T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507174	NM_020706.2(SCAF4):c.3157T>C (p.Ser1053Pro)	SCAF4 (S1031P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533300	NM_020706.2(SCAF4):c.3129C>G (p.His1043Gln)	SCAF4 (H1021Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708783	NM_020706.2(SCAF4):c.3127C>T (p.His1043Tyr)	SCAF4 (H1021Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370271	NM_020706.2(SCAF4):c.3125G>T (p.Arg1042Met)	SCAF4 (R1020M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344061	NM_020706.2(SCAF4):c.3100G>A (p.Gly1034Arg)	SCAF4 (G1012R +2 more)	Single nucleotide variant (missense variant)	SCAF4-related disorder	GUncertain significance
Select item 3352341	NM_020706.2(SCAF4):c.3085G>A (p.Asp1029Asn)	SCAF4 (D1007N +2 more)	Single nucleotide variant (missense variant)	SCAF4-related disorder	GLikely benign
Select item 3158171	NM_020706.2(SCAF4):c.3083G>A (p.Arg1028His)	SCAF4 (R1013H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352425	NM_020706.2(SCAF4):c.3019A>G (p.Asn1007Asp)	SCAF4 (N985D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068660	NM_020706.2(SCAF4):c.2989C>T (p.Gln997Ter)	SCAF4 (Q975* +2 more)	Single nucleotide variant (nonsense)	Complex neurodevelopmental disorder	GUncertain significance
Select item 2624187	NM_020706.2(SCAF4):c.2986G>C (p.Asp996His)	SCAF4 (D974H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316652	NM_020706.2(SCAF4):c.2981G>A (p.Gly994Asp)	SCAF4 (G994D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412865	NM_020706.2(SCAF4):c.2939_2944del (p.Pro980_Gln981del)	SCAF4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3370940	NM_020706.2(SCAF4):c.2908_2925del (p.Ser970_Pro975del)	SCAF4	Deletion	not provided	GUncertain significance
Select item 2381326	NM_020706.2(SCAF4):c.2879AGC[8] (p.Gln966_Pro967insGln)	SCAF4	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 3031204	NM_020706.2(SCAF4):c.2877_2888del (p.Gln963_Gln966del)	SCAF4	Deletion	SCAF4-related disorder	GUncertain significance
Select item 2351761	NM_020706.2(SCAF4):c.2873A>G (p.Gln958Arg)	SCAF4 (Q943R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216487	NM_020706.2(SCAF4):c.2840_2848dup (p.Gln949_Gln950insProGlnGln)	SCAF4	Duplication (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 3158170	NM_020706.2(SCAF4):c.2831C>T (p.Pro944Leu)	SCAF4 (P922L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3038324	NM_020706.2(SCAF4):c.2748T>C (p.Val916=)	SCAF4	Single nucleotide variant (synonymous variant)	SCAF4-related disorder	GBenign
Select item 1331572	NM_020706.2(SCAF4):c.2746G>A (p.Val916Ile)	SCAF4 (V894I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507305	NM_020706.2(SCAF4):c.2705C>T (p.Pro902Leu)	SCAF4 (P880L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610970	NM_020706.2(SCAF4):c.2630C>T (p.Pro877Leu)	SCAF4 (P862L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3378071	NM_020706.2(SCAF4):c.2612A>C (p.Gln871Pro)	SCAF4 (Q849P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316336	NM_020706.2(SCAF4):c.2558G>A (p.Arg853Gln)	SCAF4 (R831Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331571	NM_020706.2(SCAF4):c.2549T>C (p.Leu850Pro)	SCAF4 (L828P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3158169	NM_020706.2(SCAF4):c.2491A>T (p.Thr831Ser)	SCAF4 (T831S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491641	NM_020706.2(SCAF4):c.2464G>A (p.Val822Ile)	SCAF4 (V807I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158168	NM_020706.2(SCAF4):c.2444C>T (p.Thr815Met)	SCAF4 (T793M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350366	NM_020706.2(SCAF4):c.2386G>A (p.Ala796Thr)	SCAF4 (A774T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 987155	NM_020706.2(SCAF4):c.2375del (p.Ala792fs)	SCAF4 (A770fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2442564	NM_020706.2(SCAF4):c.2353A>G (p.Ile785Val)	SCAF4 (I770V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375366	NM_020706.2(SCAF4):c.2310T>G (p.Gly770=)	SCAF4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3158167	NM_020706.2(SCAF4):c.2299A>G (p.Thr767Ala)	SCAF4 (T767A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3364765	NM_020706.2(SCAF4):c.2288T>C (p.Ile763Thr)	SCAF4 (I748T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652588	NM_020706.2(SCAF4):c.2287A>C (p.Ile763Leu)	SCAF4 (I748L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2663246	NM_020706.2(SCAF4):c.2271C>A (p.His757Gln)	SCAF4 (H742Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3147975	NM_020706.2(SCAF4):c.2209+1G>T	SCAF4	Single nucleotide variant (splice donor variant)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 3043589	NM_020706.2(SCAF4):c.2209+1G>A	SCAF4	Single nucleotide variant (splice donor variant)	SCAF4-related disorder	GUncertain significance
Select item 2528010	NM_020706.2(SCAF4):c.2114G>T (p.Gly705Val)	SCAF4 (G690V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373929	NM_020706.2(SCAF4):c.2062G>A (p.Gly688Ser)	SCAF4 (G673S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3358610	NM_020706.2(SCAF4):c.2061G>A (p.Pro687=)	SCAF4	Single nucleotide variant (synonymous variant)	SCAF4-related disorder	GLikely benign
Select item 3375507	NM_020706.2(SCAF4):c.2058A>C (p.Gln686His)	SCAF4 (Q671H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368634	NM_020706.2(SCAF4):c.2009C>T (p.Pro670Leu)	SCAF4 (P655L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2590392	NM_020706.2(SCAF4):c.1996G>A (p.Val666Ile)	SCAF4 (V651I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2275932	NM_020706.2(SCAF4):c.1975C>G (p.Pro659Ala)	SCAF4 (P659A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372836	NM_020706.2(SCAF4):c.1974A>G (p.Ile658Met)	SCAF4 (I643M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2242266	NM_020706.2(SCAF4):c.1969C>T (p.Pro657Ser)	SCAF4 (P657S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331587	NM_020706.2(SCAF4):c.1925C>T (p.Ala642Val)	SCAF4 (A627V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316335	NM_020706.2(SCAF4):c.1903A>G (p.Lys635Glu)	SCAF4 (K620E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443556	NM_020706.2(SCAF4):c.1895G>A (p.Gly632Glu)	SCAF4 (G617E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989409	NM_020706.2(SCAF4):c.1889G>A (p.Trp630Ter)	SCAF4 (W630* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2301098	NM_020706.2(SCAF4):c.1880A>G (p.Asn627Ser)	SCAF4 (N627S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3375262	NM_020706.2(SCAF4):c.1865A>G (p.Asp622Gly)	SCAF4 (D607G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340494	NM_020706.2(SCAF4):c.1861_1862del (p.Leu621fs)	SCAF4 (L606fs +1 more)	Deletion (frameshift variant)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 3368832	NM_020706.2(SCAF4):c.1832A>T (p.Glu611Val)	SCAF4 (E596V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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