GNPTG[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 952

<< First< Prev

Page of 10

	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	LOC112340388, LOC112441449 +821 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 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 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 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	LOC105371046, LOC105371050 +842 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 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 146966	GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1	BAIAP3, CCDC154 +32 more	Copy number loss	See cases	GBenign
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 1289434	NM_001001410.3(TSR3):c.-40G>C	GNPTG, LOC130058158 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 369107	NM_032520.4(GNPTG):c.-72G>C	GNPTG, LOC130058158	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 317800	NM_032520.4(GNPTG):c.-60C>T	GNPTG, LOC130058158	Single nucleotide variant	GNPTG-mucolipidosis	GUncertain significance
Select item 317801	NM_032520.4(GNPTG):c.-42G>C	GNPTG, LOC130058158	Single nucleotide variant	GNPTG-mucolipidosis	GUncertain significance
Select item 317802	NM_032520.4(GNPTG):c.-40C>A	GNPTG, LOC130058158	Single nucleotide variant	GNPTG-mucolipidosis	GUncertain significance
Select item 886761	NM_032520.5(GNPTG):c.-28G>A	LOC130058158, GNPTG	Single nucleotide variant (5 prime UTR variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 989917	NM_032520.5(GNPTG):c.-10C>A	GNPTG, LOC130058158	Single nucleotide variant (5 prime UTR variant)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 665655	NC_000016.10:g.(?_1351956)_(1363101_?)del	GNPTG, LOC130058158	Deletion	not provided	GPathogenic
Select item 1043186	NM_032520.5(GNPTG):c.-2_9del (p.Met1fs)	GNPTG, LOC130058158 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 989918	NM_032520.5(GNPTG):c.-4C>T	GNPTG, LOC130058158	Single nucleotide variant (5 prime UTR variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 2703201	NM_032520.5(GNPTG):c.4_7dup (p.Ala3fs)	GNPTG, LOC130058158 (A3fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 557376	NM_032520.5(GNPTG):c.2_4del (p.Met1_Ala2delinsThr)	GNPTG, LOC130058158	Deletion (initiator_codon_variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 1422101	NM_032520.5(GNPTG):c.3G>A (p.Met1Ile)	GNPTG, LOC130058158 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 555097	NM_032520.5(GNPTG):c.5CGG[1] (p.Ala3del)	GNPTG, LOC130058158 (A3del)	Microsatellite (inframe_deletion +1 more)	GNPTG-mucolipidosis +1 more	GUncertain significance
Select item 2199876	NM_032520.5(GNPTG):c.5C>T (p.Ala2Val)	GNPTG, LOC130058158 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464335	NM_032520.5(GNPTG):c.6G>A (p.Ala2=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 317803	NM_032520.5(GNPTG):c.6G>T (p.Ala2=)	LOC130058158, GNPTG	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550565	NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr)	GNPTG, LOC130058158 (A3T)	Single nucleotide variant (missense variant)	GNPTG-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 658914	NM_032520.5(GNPTG):c.8C>T (p.Ala3Val)	GNPTG, LOC130058158 (A3V)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +1 more	GUncertain significance
Select item 2778922	NM_032520.5(GNPTG):c.9G>T (p.Ala3=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635862	NM_032520.5(GNPTG):c.9G>C (p.Ala3=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233940	NM_032520.5(GNPTG):c.15_23dup (p.Leu8_Leu9insAlaArgLeu)	GNPTG, LOC130058158	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 989919	NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu)	GNPTG, LOC130058158 (G4E)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GLikely benign
Select item 886762	NM_032520.5(GNPTG):c.11G>C (p.Gly4Ala)	GNPTG, LOC130058158 (G4A)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +1 more	GUncertain significance
Select item 2741992	NM_032520.5(GNPTG):c.12G>A (p.Gly4=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055785	NM_032520.5(GNPTG):c.12G>T (p.Gly4=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007711	NM_032520.5(GNPTG):c.13C>G (p.Leu5Val)	GNPTG, LOC130058158 (L5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757978	NM_032520.5(GNPTG):c.13C>T (p.Leu5=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917614	NM_032520.5(GNPTG):c.16dup (p.Ala6fs)	GNPTG, LOC130058158 (A6fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2771288	NM_032520.5(GNPTG):c.15_25dup (p.Leu9fs)	GNPTG, LOC130058158 (L9fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1986974	NM_032520.5(GNPTG):c.15G>A (p.Leu5=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922912	NM_032520.5(GNPTG):c.16G>A (p.Ala6Thr)	GNPTG, LOC130058158 (A6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989920	NM_032520.5(GNPTG):c.16G>T (p.Ala6Ser)	GNPTG, LOC130058158 (A6S)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 1509507	NM_032520.5(GNPTG):c.17C>T (p.Ala6Val)	GNPTG, LOC130058158 (A6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859524	NM_032520.5(GNPTG):c.18G>T (p.Ala6=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170082	NM_032520.5(GNPTG):c.18G>A (p.Ala6=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869418	NM_032520.5(GNPTG):c.19C>A (p.Arg7=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1036156	NM_032520.5(GNPTG):c.19C>T (p.Arg7Trp)	GNPTG, LOC130058158 (R7W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201948	NM_032520.5(GNPTG):c.20G>A (p.Arg7Gln)	GNPTG, LOC130058158 (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960462	NM_032520.5(GNPTG):c.21G>A (p.Arg7=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831499	NM_032520.5(GNPTG):c.21G>C (p.Arg7=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1159382	NM_032520.5(GNPTG):c.21G>T (p.Arg7=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971255	NM_032520.5(GNPTG):c.22C>T (p.Leu8Phe)	GNPTG, LOC130058158 (L8F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886763	NM_032520.5(GNPTG):c.23T>A (p.Leu8His)	LOC130058158, GNPTG (L8H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1125671	NM_032520.5(GNPTG):c.24C>G (p.Leu8=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124599	NM_032520.5(GNPTG):c.24C>T (p.Leu8=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095060	NM_032520.5(GNPTG):c.25C>T (p.Leu9=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521637	NM_032520.5(GNPTG):c.26T>A (p.Leu9Gln)	GNPTG, LOC130058158 (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965293	NM_032520.5(GNPTG):c.26T>C (p.Leu9Pro)	GNPTG, LOC130058158 (L9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616396	NM_032520.5(GNPTG):c.27G>A (p.Leu9=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1120674	NM_032520.5(GNPTG):c.27G>C (p.Leu9=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715347	NM_032520.5(GNPTG):c.28T>C (p.Leu10=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 557735	NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)	GNPTG, LOC130058158 (L10*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 860079	NM_032520.5(GNPTG):c.32T>C (p.Leu11Pro)	GNPTG, LOC130058158 (L11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1079690	NM_032520.5(GNPTG):c.33C>T (p.Leu11=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1151504	NM_032520.5(GNPTG):c.36C>T (p.Leu12=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141389	NM_032520.5(GNPTG):c.37G>C (p.Gly13Arg)	GNPTG, LOC130058158 (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1725799	NM_032520.5(GNPTG):c.37_38delinsT (p.Gly13fs)	GNPTG, LOC130058158 (G13fs)	Indel (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 2031869	NM_032520.5(GNPTG):c.39G>T (p.Gly13=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642296	NM_032520.5(GNPTG):c.42C>G (p.Leu14=)	LOC130058158, GNPTG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754299	NM_032520.5(GNPTG):c.42C>T (p.Leu14=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 793074	NM_032520.5(GNPTG):c.45G>C (p.Ser15=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745418	NM_032520.5(GNPTG):c.45G>T (p.Ser15=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990684	NM_032520.5(GNPTG):c.47C>T (p.Ala16Val)	GNPTG, LOC130058158 (A16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850063	NM_032520.5(GNPTG):c.48C>G (p.Ala16=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739163	NM_032520.5(GNPTG):c.48C>T (p.Ala16=)	LOC130058158, GNPTG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1345852	NM_032520.5(GNPTG):c.52+1G>A	GNPTG, LOC130058158	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1067775	NM_032520.5(GNPTG):c.52+1G>C	GNPTG, LOC130058158	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 836962	NM_032520.5(GNPTG):c.52+3G>C	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2082859	NM_032520.5(GNPTG):c.52+5G>A	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 886764	NM_032520.5(GNPTG):c.52+5G>C	LOC130058158, GNPTG	Single nucleotide variant (intron variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 2711284	NM_032520.5(GNPTG):c.52+8dup	GNPTG, LOC130058158	Duplication (intron variant)	not provided	GLikely benign
Select item 2745239	NM_032520.5(GNPTG):c.52+7G>C	LOC130058158, GNPTG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936507	NM_032520.5(GNPTG):c.52+8G>C	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1118218	NM_032520.5(GNPTG):c.52+9C>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 989921	NM_032520.5(GNPTG):c.52+11del	GNPTG, LOC130058158	Deletion (intron variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 3007717	NM_032520.5(GNPTG):c.52+11C>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830911	NM_032520.5(GNPTG):c.52+15_52+36dup	GNPTG, LOC130058158	Duplication (intron variant)	not provided	GLikely benign
Select item 2832728	NM_032520.5(GNPTG):c.52+13G>A	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005394	NM_032520.5(GNPTG):c.52+15C>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931340	NM_032520.5(GNPTG):c.52+15C>G	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982614	NM_032520.5(GNPTG):c.52+16G>A	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556543	NM_032520.5(GNPTG):c.52+16G>C	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911384	NM_032520.5(GNPTG):c.52+18C>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 10