"Genetic Services Laboratory, University of Chicago"[submitter] AND "A - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210385	NM_000052.7(ATP7A):c.-54T>C	ATP7A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 210474	NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)	ATP7A (E141fs)	Microsatellite (frameshift variant)	Menkes kinky-hair syndrome +2 more	GPathogenic
Select item 210477	NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)	ATP7A (I189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 210478	NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter)	ATP7A (Q200*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome	GPathogenic
Select item 11793	NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)	ATP7A (R201*)	Single nucleotide variant (nonsense)	Cutis laxa, X-linked +3 more	GPathogenic
Select item 210479	NM_000052.7(ATP7A):c.876del (p.Ser293fs)	ATP7A (S293fs)	Deletion (frameshift variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210386	NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter)	ATP7A (E336*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome	GPathogenic
Select item 210387	NM_000052.7(ATP7A):c.1013T>A (p.Val338Glu)	ATP7A (V338E)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 210388	NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs)	ATP7A (L342fs)	Duplication (frameshift variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210389	NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)	ATP7A (R409*)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GConflicting classifications of pathogenicity
Select item 210390	NM_000052.7(ATP7A):c.1299A>T (p.Gly433=)	ATP7A	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 210391	NM_000052.7(ATP7A):c.1355del (p.Val452fs)	ATP7A (V452fs)	Deletion (frameshift variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210392	NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter)	ATP7A (S487*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome	GPathogenic
Select item 210393	NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)	ATP7A (I506V)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +5 more	GConflicting classifications of pathogenicity
Select item 210394	NM_000052.7(ATP7A):c.1544-1G>A	ATP7A	Single nucleotide variant (splice acceptor variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210395	NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)	ATP7A (R547*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome +2 more	GPathogenic
Select item 210396	NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs)	ATP7A (I556fs)	Deletion (frameshift variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210397	NM_000052.7(ATP7A):c.1707+6T>A	ATP7A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 210398	NM_000052.7(ATP7A):c.1708-11G>T	ATP7A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 210399	NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)	ATP7A (Y594*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 210400	NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter)	ATP7A (E611*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome	GPathogenic
Select item 210401	NM_000052.7(ATP7A):c.1870-1G>C	ATP7A	Single nucleotide variant (splice acceptor variant)	Cutis laxa, X-linked +2 more	GPathogenic
Select item 210402	NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)	ATP7A (L625*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome +2 more	GPathogenic
Select item 210403	NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro)	ATP7A (A629P)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 11782	NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)	ATP7A (S637L)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210404	NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)	ATP7A (R645*)	Single nucleotide variant (nonsense)	Cutis laxa, X-linked +3 more	GPathogenic
Select item 210405	NM_000052.7(ATP7A):c.1946+1G>C	ATP7A	Single nucleotide variant (splice donor variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210406	NM_000052.7(ATP7A):c.1946+5G>A	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210407	NM_000052.7(ATP7A):c.1947-1G>C	ATP7A	Single nucleotide variant (splice acceptor variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210408	NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter)	ATP7A (W650*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome	GPathogenic
Select item 210409	NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs)	ATP7A (Y670fs)	Duplication (frameshift variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210411	NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)	ATP7A (G666R)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +1 more	GPathogenic
Select item 210410	NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg)	ATP7A (G666R)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 210412	NM_000052.7(ATP7A):c.2006T>C (p.Ile669Thr)	ATP7A (I669T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 198987	NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)	ATP7A	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +5 more	GConflicting classifications of pathogenicity
Select item 210413	NM_000052.7(ATP7A):c.2106G>T (p.Glu702Asp)	ATP7A (E702D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 210414	NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter)	ATP7A (C720*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome	GPathogenic
Select item 210416	NM_000052.7(ATP7A):c.2172G>T (p.Gln724His)	ATP7A (Q724H)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 210415	NM_000052.7(ATP7A):c.2172+5G>C	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GPathogenic/Likely pathogenic
Select item 210417	NM_000052.7(ATP7A):c.2173-2A>G	ATP7A	Single nucleotide variant (splice acceptor variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210419	NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter)	ATP7A (G727*)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210418	NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)	ATP7A (G727R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GPathogenic
Select item 210420	NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)	ATP7A (G728D)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GConflicting classifications of pathogenicity
Select item 210421	NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter)	ATP7A (W729*)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210422	NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs)	ATP7A (V751fs)	Duplication (frameshift variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 92382	NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)	ATP7A (V767L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +5 more	GBenign
Select item 210423	NM_000052.7(ATP7A):c.2302del (p.Ala768fs)	ATP7A (A768fs)	Deletion (frameshift variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210424	NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg)	ATP7A (M786R)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210425	NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)	ATP7A (R795*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 210426	NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs)	ATP7A (H799fs)	Indel (frameshift variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210427	NM_000052.7(ATP7A):c.2405_2406+1delinsT	ATP7A	Indel (splice donor variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210428	NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)	ATP7A (T818A +1 more)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +6 more	GBenign/Likely benign
Select item 210429	NM_000052.7(ATP7A):c.2498+2T>A	ATP7A	Single nucleotide variant (splice donor variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210430	NM_000052.7(ATP7A):c.2499-1_2504dup	ATP7A	Duplication (splice acceptor variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210431	NM_000052.7(ATP7A):c.2499-1G>A	ATP7A	Single nucleotide variant (splice acceptor variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210432	NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu)	ATP7A (P852L +1 more)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210433	NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer)	ATP7A	Duplication (frameshift variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210434	NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp)	ATP7A (V917D +1 more)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 210435	NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn)	ATP7A (K927N +1 more)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 210436	NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)	ATP7A (E968G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 210437	NM_000052.7(ATP7A):c.2916+3_2916+6del	ATP7A	Deletion (splice donor variant)	Menkes kinky-hair syndrome +2 more	GPathogenic/Likely pathogenic
Select item 11784	NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)	ATP7A (R980* +1 more)	Single nucleotide variant (nonsense)	Cutis laxa, X-linked +2 more	GPathogenic
Select item 210438	NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)	ATP7A (R986* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 210439	NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)	ATP7A (P1001L +1 more)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GLikely pathogenic
Select item 11788	NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)	ATP7A (G1019D +1 more)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210440	NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del)	ATP7A	Deletion (inframe_deletion)	Menkes kinky-hair syndrome	GPathogenic
Select item 210441	NM_000052.7(ATP7A):c.3112-1G>A	ATP7A	Single nucleotide variant (splice acceptor variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210442	NM_000052.7(ATP7A):c.3124del (p.Val1042fs)	ATP7A (V964fs +1 more)	Deletion (frameshift variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210443	NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly)	ATP7A	Indel (inframe_indel +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210444	NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu)	ATP7A (D1044E +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210445	NM_000052.6(ATP7A):c.3152_3156delACGGAins4	ATP7A	Indel	Menkes kinky-hair syndrome	GPathogenic
Select item 210446	NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter)	ATP7A (Y1095* +1 more)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210447	NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter)	ATP7A (C1096* +1 more)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210448	NM_000052.7(ATP7A):c.3294+1G>T	ATP7A	Single nucleotide variant (splice donor variant)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 434447	NM_000052.7(ATP7A):c.3295-12_3295-3del	ATP7A	Deletion (intron variant)	not specified	GUncertain significance
Select item 210449	NM_000052.7(ATP7A):c.3340del (p.Val1114fs)	ATP7A (V1114fs +1 more)	Deletion (frameshift variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210450	NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys)	ATP7A (G1118C +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 210451	NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter)	ATP7A (E1127* +1 more)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210452	NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)	ATP7A (I1150T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 210453	NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter)	ATP7A (Q1156* +1 more)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210454	NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter)	ATP7A (Q1168* +1 more)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210455	NM_000052.7(ATP7A):c.3532T>C (p.Tyr1178His)	ATP7A (Y1178H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 210456	NM_000052.7(ATP7A):c.3537del (p.Val1180fs)	ATP7A (V1102fs +1 more)	Deletion (frameshift variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210457	NM_000052.7(ATP7A):c.3658+13A>G	ATP7A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 210458	NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu)	ATP7A (G1255E +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210459	NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer)	ATP7A	Indel (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210460	NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs)	ATP7A (K1181fs +1 more)	Indel (frameshift variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210461	NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu)	ATP7A (Q1267L +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 210462	NM_000052.7(ATP7A):c.3801+1G>T	ATP7A	Single nucleotide variant (splice donor variant)	Menkes kinky-hair syndrome	GPathogenic
Select item 210463	NM_000052.7(ATP7A):c.3801+4A>G	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 11792	NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)	ATP7A (N1304S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 210465	NM_000052.7(ATP7A):c.3920del (p.Pro1307fs)	ATP7A (P1229fs +1 more)	Deletion (frameshift variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210464	NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg)	ATP7A (P1307R +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210466	NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)	ATP7A (M1311V +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked distal spinal muscular atrophy type 3 +6 more	GConflicting classifications of pathogenicity
Select item 210467	NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg)	ATP7A (G1315R +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 210468	NM_000052.7(ATP7A):c.4005+1G>T	ATP7A	Single nucleotide variant (splice donor variant)	Menkes kinky-hair syndrome +2 more	GPathogenic/Likely pathogenic
Select item 210469	NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del)	ATP7A (L1339del +1 more)	Microsatellite (inframe_deletion +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 92384	NM_000052.7(ATP7A):c.4048= (p.Lys1350=)	ATP7A	Single nucleotide variant (no sequence alteration +1 more)	Cutis laxa, X-linked +5 more	GBenign
Select item 210471	NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg)	ATP7A (G1375R +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 210470	NM_000052.7(ATP7A):c.4123+1G>A	ATP7A	Single nucleotide variant (splice donor variant)	Menkes kinky-hair syndrome	GPathogenic

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