9091[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 58598	GRCh38/hg38 16p13.3(chr16:239680-589745)x3	ARHGDIG, AXIN1 +34 more	Copy number gain	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 1185510	NM_004204.5(PIGQ):c.-9-1501A>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 2168502	NM_004204.5(PIGQ):c.1A>C (p.Met1Leu)	PIGQ (M1L)	Single nucleotide variant (missense variant +1 more)	Epilepsy	GUncertain significance
Select item 1377660	NM_004204.5(PIGQ):c.12G>A (p.Lys4=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GUncertain significance
Select item 1361864	NM_004204.5(PIGQ):c.12G>T (p.Lys4Asn)	PIGQ (K4N)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1054114	NM_004204.5(PIGQ):c.19T>G (p.Phe7Val)	PIGQ (F7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1597764	NM_004204.5(PIGQ):c.21C>T (p.Phe7=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1055203	NM_004204.5(PIGQ):c.23C>A (p.Pro8His)	PIGQ (P8H)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 456041	NM_004204.5(PIGQ):c.27G>A (p.Thr9=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy +1 more	GBenign
Select item 1396168	NM_004204.5(PIGQ):c.28T>G (p.Cys10Gly)	PIGQ (C10G)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1106360	NM_004204.5(PIGQ):c.33C>T (p.Cys11=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 456045	NM_004204.5(PIGQ):c.34G>A (p.Val12Ile)	PIGQ (V12I)	Single nucleotide variant (missense variant)	Epilepsy +1 more	GBenign
Select item 1361524	NM_004204.5(PIGQ):c.38C>T (p.Ser13Leu)	PIGQ (S13L)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 937001	NM_004204.5(PIGQ):c.38C>G (p.Ser13Trp)	PIGQ (S13W)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2740261	NM_004204.5(PIGQ):c.39G>A (p.Ser13=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 526275	NM_004204.5(PIGQ):c.39_40delinsAG (p.Thr14Ala)	PIGQ (T14A)	Indel (missense variant)	Epilepsy	GUncertain significance
Select item 2176106	NM_004204.5(PIGQ):c.40_41inv (p.Thr14Val)	PIGQ (T14V)	Inversion (missense variant)	Epilepsy	GUncertain significance
Select item 1164853	NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala)	PIGQ (T14A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 526290	NM_004204.5(PIGQ):c.41C>T (p.Thr14Met)	PIGQ (T14M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1422078	NM_004204.5(PIGQ):c.42G>A (p.Thr14=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2714706	NM_004204.5(PIGQ):c.48C>T (p.Ser16=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1416208	NM_004204.5(PIGQ):c.52_70dup (p.Val24fs)	PIGQ (V24fs)	Duplication (frameshift variant)	Epilepsy	GPathogenic
Select item 636279	NM_004204.5(PIGQ):c.49G>A (p.Gly17Arg)	PIGQ (G17R)	Single nucleotide variant (missense variant)	PIGQ-related disorder	GUncertain significance
Select item 2750505	NM_004204.5(PIGQ):c.60G>A (p.Val20=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1508427	NM_004204.5(PIGQ):c.64C>T (p.Arg22Trp)	PIGQ (R22W)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1147405	NM_004204.5(PIGQ):c.64C>A (p.Arg22=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 654701	NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln)	PIGQ (R22Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77 +2 more	GUncertain significance
Select item 1992066	NM_004204.5(PIGQ):c.68G>A (p.Trp23Ter)	PIGQ (W23*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 567792	NM_004204.5(PIGQ):c.74C>T (p.Pro25Leu)	PIGQ (P25L)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 456053	NM_004204.5(PIGQ):c.75G>A (p.Pro25=)	PIGQ	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1360722	NM_004204.5(PIGQ):c.76G>C (p.Glu26Gln)	PIGQ (E26Q)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 526280	NM_004204.5(PIGQ):c.77A>G (p.Glu26Gly)	PIGQ (E26G)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 937129	NM_004204.5(PIGQ):c.82A>T (p.Ser28Cys)	PIGQ (S28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1965786	NM_004204.5(PIGQ):c.86G>A (p.Ser29Asn)	PIGQ (S29N)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1369604	NM_004204.5(PIGQ):c.91_106del (p.Val31fs)	PIGQ (V31fs)	Deletion (frameshift variant)	Epilepsy	GPathogenic
Select item 1999712	NM_004204.5(PIGQ):c.90C>G (p.Ala30=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1399873	NM_004204.5(PIGQ):c.90C>T (p.Ala30=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 526274	NM_004204.5(PIGQ):c.91G>A (p.Val31Met)	PIGQ (V31M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77 +3 more	GUncertain significance
Select item 2051867	NM_004204.5(PIGQ):c.100G>C (p.Ala34Pro)	PIGQ (A34P)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2157790	NM_004204.5(PIGQ):c.101C>T (p.Ala34Val)	PIGQ (A34V)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1146834	NM_004204.5(PIGQ):c.102G>A (p.Ala34=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2807558	NM_004204.5(PIGQ):c.105C>T (p.Val35=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1404207	NM_004204.5(PIGQ):c.110A>G (p.His37Arg)	PIGQ (H37R)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2088536	NM_004204.5(PIGQ):c.115C>T (p.Pro39Ser)	PIGQ (P39S)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 763738	NM_004204.5(PIGQ):c.120C>T (p.Phe40=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1511746	NM_004204.5(PIGQ):c.121A>T (p.Ile41Phe)	PIGQ (I41F)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2133592	NM_004204.5(PIGQ):c.124C>G (p.Pro42Ala)	PIGQ (P42A)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2157283	NM_004204.5(PIGQ):c.125C>T (p.Pro42Leu)	PIGQ (P42L)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1113458	NM_004204.5(PIGQ):c.129C>T (p.Ile43=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1041437	NM_004204.5(PIGQ):c.148G>T (p.Ala50Ser)	PIGQ (A50S)	Single nucleotide variant (missense variant)	Epilepsy +2 more	GUncertain significance
Select item 1953940	NM_004204.5(PIGQ):c.156G>A (p.Val52=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GUncertain significance
Select item 949652	NM_004204.5(PIGQ):c.157C>T (p.Arg53Trp)	PIGQ (R53W)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 652523	NM_004204.5(PIGQ):c.158G>A (p.Arg53Gln)	PIGQ (R53Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2802239	NM_004204.5(PIGQ):c.159G>A (p.Arg53=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1452468	NM_004204.5(PIGQ):c.161_174del (p.Gln54fs)	PIGQ (Q54fs)	Deletion (frameshift variant)	Epilepsy	GPathogenic
Select item 456038	NM_004204.5(PIGQ):c.165C>T (p.Ala55=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1396858	NM_004204.5(PIGQ):c.177C>T (p.Gly59=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 639063	NM_004204.5(PIGQ):c.178G>A (p.Val60Met)	PIGQ (V60M)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 526283	NM_004204.5(PIGQ):c.183C>T (p.Ala61=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 834699	NM_004204.5(PIGQ):c.184G>A (p.Val62Met)	PIGQ (V62M)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1305788	NM_004204.5(PIGQ):c.190G>A (p.Gly64Ser)	PIGQ (G64S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856227	NM_004204.5(PIGQ):c.194C>T (p.Thr65Ile)	PIGQ (T65I)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2730451	NM_004204.5(PIGQ):c.195C>A (p.Thr65=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1006304	NM_004204.5(PIGQ):c.208C>T (p.Arg70Trp)	PIGQ (R70W)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1406561	NM_004204.5(PIGQ):c.209G>A (p.Arg70Gln)	PIGQ (R70Q)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2065234	NM_004204.5(PIGQ):c.210G>A (p.Arg70=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1070292	NM_004204.5(PIGQ):c.211C>T (p.Gln71Ter)	PIGQ (Q71*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 1345320	NM_004204.5(PIGQ):c.212A>G (p.Gln71Arg)	PIGQ (Q71R)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1433114	NM_004204.5(PIGQ):c.215A>T (p.Glu72Val)	PIGQ (E72V)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1150381	NM_004204.5(PIGQ):c.216G>A (p.Glu72=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1587160	NM_004204.5(PIGQ):c.219C>G (p.Pro73=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 732302	NM_004204.5(PIGQ):c.219C>T (p.Pro73=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2976561	NM_004204.5(PIGQ):c.220G>T (p.Glu74Ter)	PIGQ (E74*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 1014211	NM_004204.5(PIGQ):c.220G>A (p.Glu74Lys)	PIGQ (E74K)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1439029	NM_004204.5(PIGQ):c.234_254del (p.Arg79_Gly85del)	PIGQ	Deletion (inframe_deletion)	Epilepsy	GUncertain significance
Select item 2831080	NM_004204.5(PIGQ):c.223G>T (p.Glu75Ter)	PIGQ (E75*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 456039	NM_004204.5(PIGQ):c.225G>A (p.Glu75=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2166353	NM_004204.5(PIGQ):c.227G>A (p.Ser76Asn)	PIGQ (S76N)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1715548	NM_004204.5(PIGQ):c.227G>T (p.Ser76Ile)	PIGQ (S76I)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 759849	NM_004204.5(PIGQ):c.231G>A (p.Leu77=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 1436976	NM_004204.5(PIGQ):c.233G>C (p.Gly78Ala)	PIGQ (G78A)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1923598	NM_004204.5(PIGQ):c.234C>T (p.Gly78=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign

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