IQCN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 3110575	NM_001145304.2(IQCN):c.4079G>A (p.Arg1360Gln)	IQCN (R1127Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110574	NM_001145304.2(IQCN):c.4043C>T (p.Ala1348Val)	IQCN (A1161V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110573	NM_001145304.2(IQCN):c.4021A>C (p.Ser1341Arg)	IQCN (S1154R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110572	NM_001145304.2(IQCN):c.3977C>T (p.Ala1326Val)	IQCN (A1326V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110571	NM_001145304.2(IQCN):c.3896G>A (p.Arg1299His)	IQCN (R1112H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110570	NM_001145304.2(IQCN):c.3893A>G (p.His1298Arg)	IQCN (H1065R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110569	NM_001145304.2(IQCN):c.3848G>T (p.Trp1283Leu)	IQCN (W1050L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454468	NM_001145304.2(IQCN):c.3781C>T (p.Arg1261Cys)	IQCN (R1028C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520750	NM_001145304.2(IQCN):c.3760C>T (p.Arg1254Cys)	IQCN (R1254C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591251	NM_001145304.2(IQCN):c.3725C>T (p.Pro1242Leu)	IQCN (P1009L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110568	NM_001145304.2(IQCN):c.3682G>A (p.Ala1228Thr)	IQCN (A1041T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559886	NM_001145304.2(IQCN):c.3656G>A (p.Arg1219His)	IQCN (R1219H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110567	NM_001145304.2(IQCN):c.3561C>A (p.His1187Gln)	IQCN (H1187Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649576	NM_001145304.2(IQCN):c.3542G>A (p.Arg1181Gln)	IQCN (R1181Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3110566	NM_001145304.2(IQCN):c.3511C>A (p.Arg1171Ser)	IQCN (R1171S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110564	NM_001145304.2(IQCN):c.3491C>T (p.Thr1164Met)	IQCN (T977M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110563	NM_001145304.2(IQCN):c.3488C>A (p.Thr1163Asn)	IQCN (T1163N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460937	NM_001145304.2(IQCN):c.3461G>A (p.Arg1154Gln)	IQCN (R1154Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110562	NM_001145304.2(IQCN):c.3460C>T (p.Arg1154Trp)	IQCN (R921W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552357	NM_001145304.2(IQCN):c.3460C>G (p.Arg1154Gly)	IQCN (R921G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531203	NM_001145304.2(IQCN):c.3457C>T (p.Arg1153Trp)	IQCN (R966W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110561	NM_001145304.2(IQCN):c.3452G>A (p.Arg1151His)	IQCN (R1151H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110560	NM_001145304.2(IQCN):c.3451C>T (p.Arg1151Cys)	IQCN (R964C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110559	NM_001145304.2(IQCN):c.3443G>A (p.Arg1148His)	IQCN (R961H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110558	NM_001145304.2(IQCN):c.3388C>T (p.Arg1130Cys)	IQCN (R897C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110557	NM_001145304.2(IQCN):c.3373C>T (p.Arg1125Cys)	IQCN (R892C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110556	NM_001145304.2(IQCN):c.3346G>A (p.Ala1116Thr)	IQCN (A1116T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110555	NM_001145304.2(IQCN):c.3337C>T (p.Arg1113Cys)	IQCN (R880C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466650	NM_001145304.2(IQCN):c.3307A>G (p.Met1103Val)	IQCN (M916V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110554	NM_001145304.2(IQCN):c.3293G>A (p.Arg1098Gln)	IQCN (R865Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110553	NM_001145304.2(IQCN):c.3266G>T (p.Arg1089Leu)	IQCN (R902L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110552	NM_001145304.2(IQCN):c.3260C>T (p.Thr1087Ile)	IQCN (T1087I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543408	NM_001145304.2(IQCN):c.3256G>A (p.Asp1086Asn)	IQCN (D1086N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110551	NM_001145304.2(IQCN):c.3223G>A (p.Ala1075Thr)	IQCN (A1075T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110550	NM_001145304.2(IQCN):c.3185C>T (p.Ala1062Val)	IQCN (A829V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483507	NM_001145304.2(IQCN):c.3139G>T (p.Gly1047Trp)	IQCN (G1047W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483506	NM_001145304.2(IQCN):c.3137G>T (p.Trp1046Leu)	IQCN (W1046L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464748	NM_001145304.2(IQCN):c.3094G>T (p.Ala1032Ser)	IQCN (A1032S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110548	NM_001145304.2(IQCN):c.3089C>T (p.Thr1030Met)	IQCN (T1030M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110547	NM_001145304.2(IQCN):c.3079G>T (p.Val1027Leu)	IQCN (V1027L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110546	NM_001145304.2(IQCN):c.3059C>T (p.Ser1020Leu)	IQCN (S1020L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110545	NM_001145304.2(IQCN):c.3055G>A (p.Ala1019Thr)	IQCN (A1019T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2649577	NM_001145304.2(IQCN):c.3030G>A (p.Arg1010=)	IQCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3110544	NM_001145304.2(IQCN):c.2998C>G (p.Leu1000Val)	IQCN (L1000V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110543	NM_001145304.2(IQCN):c.2900T>C (p.Met967Thr)	IQCN (M967T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110542	NM_001145304.2(IQCN):c.2866C>T (p.Arg956Trp)	IQCN (R956W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110541	NM_001145304.2(IQCN):c.2840G>A (p.Arg947His)	IQCN (R947H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110540	NM_001145304.2(IQCN):c.2839C>T (p.Arg947Cys)	IQCN (R947C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110539	NM_001145304.2(IQCN):c.2796G>A (p.Met932Ile)	IQCN (M932I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649578	NM_001145304.2(IQCN):c.2718A>G (p.Glu906=)	IQCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3110538	NM_001145304.2(IQCN):c.2702C>A (p.Ala901Asp)	IQCN (A901D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457296	NM_001145304.2(IQCN):c.2611G>T (p.Asp871Tyr)	IQCN (D825Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110537	NM_001145304.2(IQCN):c.2587G>A (p.Gly863Ser)	IQCN (G817S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110536	NM_001145304.2(IQCN):c.2566C>T (p.Arg856Cys)	IQCN (R810C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458305	NM_001145304.2(IQCN):c.2566C>G (p.Arg856Gly)	IQCN (R810G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110535	NM_001145304.2(IQCN):c.2557G>C (p.Gly853Arg)	IQCN (G807R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110534	NM_001145304.2(IQCN):c.2557G>A (p.Gly853Arg)	IQCN (G807R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600881	NM_001145304.2(IQCN):c.2536G>A (p.Val846Ile)	IQCN (V800I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110533	NM_001145304.2(IQCN):c.2501C>T (p.Pro834Leu)	IQCN (P834L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110532	NM_001145304.2(IQCN):c.2459G>C (p.Gly820Ala)	IQCN (G774A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626861	NM_001145304.2(IQCN):c.2453_2454del (p.Gln818fs)	IQCN (Q772fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 78	GPathogenic
Select item 3110531	NM_001145304.2(IQCN):c.2434G>T (p.Val812Leu)	IQCN (V812L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110530	NM_001145304.2(IQCN):c.2432A>G (p.His811Arg)	IQCN (H765R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589587	NM_001145304.2(IQCN):c.2359C>T (p.Arg787Cys)	IQCN (R741C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110528	NM_001145304.2(IQCN):c.2345A>G (p.Asn782Ser)	IQCN (N736S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110527	NM_001145304.2(IQCN):c.2342C>G (p.Ser781Cys)	IQCN (S781C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512061	NM_001145304.2(IQCN):c.2330G>A (p.Gly777Glu)	IQCN (G777E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110525	NM_001145304.2(IQCN):c.2284G>C (p.Ala762Pro)	IQCN (A716P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110524	NM_001145304.2(IQCN):c.2276C>T (p.Ala759Val)	IQCN (A713V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488850	NM_001145304.2(IQCN):c.2245A>G (p.Ile749Val)	IQCN (I749V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110523	NM_001145304.2(IQCN):c.2233C>T (p.Arg745Trp)	IQCN (R699W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623787	NM_001145304.2(IQCN):c.2225C>T (p.Thr742Met)	IQCN (T742M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610570	NM_001145304.2(IQCN):c.2132C>A (p.Thr711Asn)	IQCN (T665N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568636	NM_001145304.2(IQCN):c.1976G>A (p.Arg659Gln)	IQCN (R613Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110521	NM_001145304.2(IQCN):c.1975C>T (p.Arg659Trp)	IQCN (R613W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110520	NM_001145304.2(IQCN):c.1924G>A (p.Asp642Asn)	IQCN (D642N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110519	NM_001145304.2(IQCN):c.1880A>T (p.Glu627Val)	IQCN (E581V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460926	NM_001145304.2(IQCN):c.1847C>G (p.Thr616Arg)	IQCN (T616R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110518	NM_001145304.2(IQCN):c.1806A>C (p.Glu602Asp)	IQCN (E602D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110516	NM_001145304.2(IQCN):c.1778C>G (p.Pro593Arg)	IQCN (P593R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110515	NM_001145304.2(IQCN):c.1763C>T (p.Pro588Leu)	IQCN (P588L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2475758	NM_001145304.2(IQCN):c.1748T>A (p.Leu583Gln)	IQCN (L537Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110514	NM_001145304.2(IQCN):c.1743G>T (p.Arg581Ser)	IQCN (R535S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110513	NM_001145304.2(IQCN):c.1721A>G (p.Tyr574Cys)	IQCN (Y528C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110512	NM_001145304.2(IQCN):c.1696G>C (p.Val566Leu)	IQCN (V520L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110511	NM_001145304.2(IQCN):c.1687G>T (p.Ala563Ser)	IQCN (A517S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649579	NM_001145304.2(IQCN):c.1605G>A (p.Ala535=)	IQCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110510	NM_001145304.2(IQCN):c.1594C>T (p.Pro532Ser)	IQCN (P532S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110509	NM_001145304.2(IQCN):c.1526G>A (p.Arg509His)	IQCN (R463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110508	NM_001145304.2(IQCN):c.1522T>A (p.Leu508Ile)	IQCN (L462I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110507	NM_001145304.2(IQCN):c.1502T>C (p.Ile501Thr)	IQCN (I455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524772	NM_001145304.2(IQCN):c.1483A>G (p.Thr495Ala)	IQCN (T495A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110506	NM_001145304.2(IQCN):c.1445A>C (p.Gln482Pro)	IQCN (Q436P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110505	NM_001145304.2(IQCN):c.1400C>T (p.Pro467Leu)	IQCN (P467L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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