ClinVar for Gene (Select 1826) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085888	NM_001389.5(DSCAM):c.893G>A (p.Arg298Lys)	DSCAM (R298K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085886	NM_001389.5(DSCAM):c.854C>T (p.Pro285Leu)	DSCAM (P285L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085885	NM_001389.5(DSCAM):c.803C>T (p.Ser268Leu)	DSCAM (S268L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085884	NM_001389.5(DSCAM):c.5842A>G (p.Met1948Val)	DSCAM (M1930V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085883	NM_001389.5(DSCAM):c.5630A>T (p.Lys1877Ile)	DSCAM (K1877I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085882	NM_001389.5(DSCAM):c.4382G>A (p.Arg1461His)	DSCAM (R1461H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085881	NM_001389.5(DSCAM):c.377A>G (p.Tyr126Cys)	DSCAM (Y126C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085880	NM_001389.5(DSCAM):c.3756T>A (p.Ser1252Arg)	DSCAM (S1252R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085879	NM_001389.5(DSCAM):c.3214A>T (p.Thr1072Ser)	DSCAM (T1072S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085878	NM_001389.5(DSCAM):c.2690A>G (p.Lys897Arg)	DSCAM (K897R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3085877	NM_001389.5(DSCAM):c.2564C>T (p.Thr855Ile)	DSCAM (T855I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085876	NM_001389.5(DSCAM):c.2207C>G (p.Pro736Arg)	DSCAM (P736R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085875	NM_001389.5(DSCAM):c.2101G>A (p.Gly701Arg)	DSCAM (G701R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085873	NM_001389.5(DSCAM):c.1880C>T (p.Thr627Met)	DSCAM (T627M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3085872	NM_001389.5(DSCAM):c.1342C>T (p.Leu448Phe)	DSCAM (L448F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085871	NM_001389.5(DSCAM):c.1232C>A (p.Ser411Tyr)	DSCAM (S411Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061576	NM_001389.5(DSCAM):c.722G>A (p.Arg241His)	DSCAM (R241H)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 3061432	NM_001389.5(DSCAM):c.750del (p.His251fs)	DSCAM (H251fs)	Deletion (frameshift variant +1 more)	DSCAM-related disorder	GLikely pathogenic
Select item 3057009	NM_001389.5(DSCAM):c.186G>A (p.Thr62=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 3055878	NM_001389.5(DSCAM):c.2655C>T (p.Pro885=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GBenign
Select item 3051224	NM_001389.5(DSCAM):c.3260-9T>C	DSCAM	Single nucleotide variant (intron variant)	DSCAM-related disorder	GLikely benign
Select item 3049289	NM_001389.5(DSCAM):c.3939T>C (p.Pro1313=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 3048930	NM_001389.5(DSCAM):c.2187T>C (p.Ala729=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 3048065	NM_001389.5(DSCAM):c.5373G>A (p.Ser1791=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 3046759	NM_001389.5(DSCAM):c.3213C>T (p.Gly1071=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 3046579	NM_001389.5(DSCAM):c.4677G>A (p.Lys1559=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 3042912	NM_001389.5(DSCAM):c.1174C>T (p.Leu392=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 3040760	NM_001389.5(DSCAM):c.5115G>A (p.Thr1705=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder	GLikely benign
Select item 3036632	NM_001389.5(DSCAM):c.4969C>T (p.Arg1657Ter)	DSCAM (R1657*)	Single nucleotide variant (nonsense +1 more)	DSCAM-related disorder	GUncertain significance
Select item 3029838	NM_001389.5(DSCAM):c.581A>T (p.Asn194Ile)	DSCAM (N194I)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 3026291	NM_001389.5(DSCAM):c.5049G>A (p.Thr1683=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025583	NM_001389.5(DSCAM):c.3577G>A (p.Ala1193Thr)	DSCAM (A1193T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2808911	NM_001389.5(DSCAM):c.3219del (p.Pro1074fs)	DSCAM (P1074fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2688979	NM_001389.5(DSCAM):c.1814del (p.Pro605fs)	DSCAM (P605fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2688978	NM_001389.5(DSCAM):c.4040G>T (p.Arg1347Leu)	DSCAM (R1347L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688977	NM_001389.5(DSCAM):c.5048C>T (p.Thr1683Met)	DSCAM (T1683M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688976	NM_001389.5(DSCAM):c.3889A>G (p.Thr1297Ala)	DSCAM (T1297A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688975	NM_001389.5(DSCAM):c.3105C>G (p.Phe1035Leu)	DSCAM (F1035L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684916	GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3	B3GALT5, BACE2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652677	NM_001389.5(DSCAM):c.651A>G (p.Val217=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	DSCAM-related disorder +1 more	GBenign
Select item 2652676	NM_001389.5(DSCAM):c.663G>A (p.Ala221=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652675	NM_001389.5(DSCAM):c.1507+8T>C	DSCAM, LOC126653376	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2652674	NM_001389.5(DSCAM):c.2090G>A (p.Arg697Gln)	DSCAM (R697Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2652673	NM_001389.5(DSCAM):c.2146T>C (p.Tyr716His)	DSCAM (Y716H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652672	NM_001389.5(DSCAM):c.2477G>A (p.Arg826Gln)	DSCAM (R826Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2652671	NM_001389.5(DSCAM):c.3313A>G (p.Ile1105Val)	DSCAM (I1105V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652670	NM_001389.5(DSCAM):c.4043C>T (p.Thr1348Met)	DSCAM (T1348M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2652669	NM_001389.5(DSCAM):c.5454C>T (p.Tyr1818=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2635454	NM_001389.5(DSCAM):c.5926G>C (p.Gly1976Arg)	DSCAM (G1958R +1 more)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2635253	NM_001389.5(DSCAM):c.3849A>T (p.Lys1283Asn)	DSCAM (K1283N)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2634419	NM_001389.5(DSCAM):c.1163G>T (p.Arg388Leu)	DSCAM (R388L)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2630736	NM_001389.5(DSCAM):c.1454C>T (p.Thr485Ile)	DSCAM, LOC126653376 (T485I)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2629972	NM_001389.5(DSCAM):c.1172A>G (p.Lys391Arg)	DSCAM (K391R)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2629791	NM_001389.5(DSCAM):c.4644G>T (p.Met1548Ile)	DSCAM (M1548I)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2629223	NM_001389.5(DSCAM):c.1577G>A (p.Arg526His)	DSCAM, LOC126653376 (R526H)	Single nucleotide variant (missense variant +1 more)	DSCAM-related disorder	GUncertain significance
Select item 2628499	NM_001389.5(DSCAM):c.4420G>T (p.Glu1474Ter)	DSCAM (E1474*)	Single nucleotide variant (nonsense +1 more)	DSCAM-related disorder	GLikely pathogenic
Select item 2620354	NM_001389.5(DSCAM):c.2986A>C (p.Ile996Leu)	DSCAM (I996L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619037	NM_001389.5(DSCAM):c.5284C>T (p.His1762Tyr)	DSCAM (H1762Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615593	NM_001389.5(DSCAM):c.4717A>G (p.Ile1573Val)	DSCAM (I1573V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2607604	NM_001389.5(DSCAM):c.4730T>A (p.Ile1577Asn)	DSCAM (I1577N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595176	NM_001389.5(DSCAM):c.874G>A (p.Val292Ile)	DSCAM (V292I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589962	NM_001389.5(DSCAM):c.824T>C (p.Val275Ala)	DSCAM (V275A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554159	NM_001389.5(DSCAM):c.4556C>A (p.Thr1519Lys)	DSCAM (T1519K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550442	NM_001389.5(DSCAM):c.1201G>A (p.Val401Ile)	DSCAM (V401I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546233	NM_001389.5(DSCAM):c.5182A>G (p.Thr1728Ala)	DSCAM (T1728A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544922	NM_001389.5(DSCAM):c.4532T>C (p.Leu1511Pro)	DSCAM (L1511P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529475	NM_001389.5(DSCAM):c.2014C>T (p.Arg672Trp)	DSCAM (R672W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523055	NM_001389.5(DSCAM):c.610A>G (p.Thr204Ala)	DSCAM (T204A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520528	NM_001389.5(DSCAM):c.5867C>G (p.Ser1956Cys)	DSCAM (S1956C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2513561	NM_001389.5(DSCAM):c.2209A>G (p.Ile737Val)	DSCAM (I737V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512827	NM_001389.5(DSCAM):c.2372C>T (p.Thr791Ile)	DSCAM (T791I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512714	NM_001389.5(DSCAM):c.1787C>T (p.Pro596Leu)	DSCAM (P596L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498897	NM_001389.5(DSCAM):c.2352T>G (p.Val784=)	DSCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2496230	NM_001389.5(DSCAM):c.4232G>A (p.Gly1411Glu)	DSCAM (G1411E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487598	NM_001389.5(DSCAM):c.1059C>G (p.Ile353Met)	DSCAM (I353M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484524	NM_001389.5(DSCAM):c.5294C>A (p.Thr1765Asn)	DSCAM (T1765N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482944	NM_001389.5(DSCAM):c.5290C>T (p.Leu1764Phe)	DSCAM (L1764F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469187	NM_001389.5(DSCAM):c.3596C>T (p.Ala1199Val)	DSCAM (A1199V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394438	NM_001389.5(DSCAM):c.5225C>T (p.Ala1742Val)	DSCAM (A1742V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2390645	NM_001389.5(DSCAM):c.2347A>G (p.Thr783Ala)	DSCAM (T783A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378580	NM_001389.5(DSCAM):c.851G>A (p.Arg284His)	DSCAM (R284H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377743	NM_001389.5(DSCAM):c.3702C>G (p.Ile1234Met)	DSCAM (I1234M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2375587	NM_001389.5(DSCAM):c.5359A>G (p.Ser1787Gly)	DSCAM (S1787G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375196	NM_001389.5(DSCAM):c.5041C>T (p.Arg1681Cys)	DSCAM (R1681C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373981	NM_001389.5(DSCAM):c.753C>A (p.His251Gln)	DSCAM (H251Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373347	NM_001389.5(DSCAM):c.1532A>G (p.Lys511Arg)	DSCAM, LOC126653376 (K511R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368291	NM_001389.5(DSCAM):c.770G>A (p.Arg257His)	DSCAM (R257H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2367453	NM_001389.5(DSCAM):c.2566G>C (p.Val856Leu)	DSCAM (V856L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366416	NM_001389.5(DSCAM):c.5955G>A (p.Met1985Ile)	DSCAM (M1967I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360465	NM_001389.5(DSCAM):c.965A>G (p.Lys322Arg)	DSCAM (K322R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355327	NM_001389.5(DSCAM):c.4063G>A (p.Gly1355Ser)	DSCAM (G1355S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2346659	NM_001389.5(DSCAM):c.5346G>C (p.Glu1782Asp)	DSCAM (E1782D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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