Related gene-specific medical variations for Gene (Select 84572) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243665	NC_000016.9:g.(?_1411724)_(1413092_?)del	GNPTG	Deletion	not provided	GPathogenic
Select item 3243664	NC_000016.9:g.(?_1401967)_(1402327_?)del	GNPTG	Deletion	not provided	GPathogenic
Select item 3243663	NC_000016.9:g.(?_1401967)_(1413092_?)del	GNPTG	Deletion	not provided	GPathogenic
Select item 3239670	NM_032520.5(GNPTG):c.916T>C (p.Ter306Arg)	GNPTG	Single nucleotide variant (stop lost)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 3233940	NM_032520.5(GNPTG):c.15_23dup (p.Leu8_Leu9insAlaArgLeu)	GNPTG, LOC130058158	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 3064995	NM_032520.5(GNPTG):c.553C>T (p.Gln185Ter)	GNPTG (Q185*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 3012937	NM_032520.5(GNPTG):c.53-14C>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009310	NM_032520.5(GNPTG):c.57C>G (p.Pro19=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007717	NM_032520.5(GNPTG):c.52+11C>T	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 2991986	NM_032520.5(GNPTG):c.53-6C>T	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 2960462	NM_032520.5(GNPTG):c.21G>A (p.Arg7=)	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 2911384	NM_032520.5(GNPTG):c.52+18C>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909909	NM_032520.5(GNPTG):c.53-4G>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895311	NM_032520.5(GNPTG):c.53-11G>A	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893599	NM_032520.5(GNPTG):c.53-17G>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872158	NM_032520.5(GNPTG):c.54G>T (p.Gly18=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871294	NM_032520.5(GNPTG):c.53-8C>T	GNPTG, LOC130058158	Single nucleotide variant (intron 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 2859887	NM_032520.5(GNPTG):c.53-16G>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2850063	NM_032520.5(GNPTG):c.48C>G (p.Ala16=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous 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 2831499	NM_032520.5(GNPTG):c.21G>C (p.Arg7=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous 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 2778922	NM_032520.5(GNPTG):c.9G>T (p.Ala3=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771288	NM_032520.5(GNPTG):c.15_25dup (p.Leu9fs)	GNPTG, LOC130058158 (L9fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2750836	NM_032520.5(GNPTG):c.53-2A>C	GNPTG, LOC130058158	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2745239	NM_032520.5(GNPTG):c.52+7G>C	LOC130058158, GNPTG	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2711284	NM_032520.5(GNPTG):c.52+8dup	GNPTG, LOC130058158	Duplication (intron variant)	not provided	GLikely benign
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 2702673	NM_032520.5(GNPTG):c.52+19C>T	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2440579	NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter)	GNPTG (Y159*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 2420466	NM_032520.5(GNPTG):c.96G>A (p.Glu32=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2199885	NM_032520.5(GNPTG):c.73G>A (p.Ala25Thr)	GNPTG, LOC130058158 (A25T)	Single nucleotide variant (missense variant)	not provided	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 2181376	NM_032520.5(GNPTG):c.102del (p.Asn34fs)	GNPTG, LOC130058158 (N34fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2177972	NM_032520.5(GNPTG):c.61C>A (p.Pro21Thr)	GNPTG, LOC130058158 (P21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2151900	NM_032520.5(GNPTG):c.61C>G (p.Pro21Ala)	GNPTG, LOC130058158 (P21A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2082859	NM_032520.5(GNPTG):c.52+5G>A	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2080282	NM_032520.5(GNPTG):c.108del (p.Phe36fs)	GNPTG, LOC130058158 (F36fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2032486	NM_032520.5(GNPTG):c.53-15T>C	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2007711	NM_032520.5(GNPTG):c.13C>G (p.Leu5Val)	GNPTG, LOC130058158 (L5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1986974	NM_032520.5(GNPTG):c.15G>A (p.Leu5=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955611	NM_032520.5(GNPTG):c.77A>T (p.Lys26Met)	GNPTG, LOC130058158 (K26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951717	NM_032520.5(GNPTG):c.60G>A (p.Ala20=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous 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 1931340	NM_032520.5(GNPTG):c.52+15C>G	GNPTG, LOC130058158	Single nucleotide variant (intron 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 1725961	NM_032520.5(GNPTG):c.88_90delinsTT (p.Val30fs)	GNPTG, LOC130058158 (V30fs)	Indel (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1725799	NM_032520.5(GNPTG):c.37_38delinsT (p.Gly13fs)	GNPTG, LOC130058158 (G13fs)	Indel (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1661965	NM_032520.5(GNPTG):c.72A>C (p.Ala24=)	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 1635862	NM_032520.5(GNPTG):c.9G>C (p.Ala3=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628310	NM_032520.5(GNPTG):c.102C>T (p.Asn34=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1590042	NM_032520.5(GNPTG):c.52+20G>A	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584147	NM_032520.5(GNPTG):c.105G>A (p.Ala35=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560286	NM_032520.5(GNPTG):c.53-20C>G	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 1521637	NM_032520.5(GNPTG):c.26T>A (p.Leu9Gln)	GNPTG, LOC130058158 (L9Q)	Single nucleotide variant (missense variant)	not provided	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 1464335	NM_032520.5(GNPTG):c.6G>A (p.Ala2=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1397713	NM_032520.5(GNPTG):c.91G>A (p.Glu31Lys)	GNPTG, LOC130058158 (E31K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355616	NM_032520.5(GNPTG):c.53-4G>A	GNPTG, LOC130058158	Single nucleotide variant (intron 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 1162187	NM_032520.5(GNPTG):c.105G>C (p.Ala35=)	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 1158117	NM_032520.5(GNPTG):c.53-5C>T	GNPTG, LOC130058158	Single nucleotide variant (intron 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 1146973	NM_032520.5(GNPTG):c.63G>C (p.Pro21=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1121785	NM_032520.5(GNPTG):c.57C>A (p.Pro19=)	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 1118788	NM_032520.5(GNPTG):c.78G>A (p.Lys26=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous 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 1099252	NM_032520.5(GNPTG):c.66A>G (p.Ala22=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1096361	NM_032520.5(GNPTG):c.53-7C>T	GNPTG, LOC130058158	Single nucleotide variant (intron 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 1093499	NM_032520.5(GNPTG):c.63G>A (p.Pro21=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1089123	NM_032520.5(GNPTG):c.53-8C>G	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1075131	NM_032520.5(GNPTG):c.89_90del (p.Val30fs)	GNPTG, LOC130058158 (V30fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 1043186	NM_032520.5(GNPTG):c.-2_9del (p.Met1fs)	GNPTG, LOC130058158 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 990362	NM_032520.5(GNPTG):c.373G>T (p.Asp125Tyr)	GNPTG (D125Y)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 990360	NM_032520.5(GNPTG):c.269C>T (p.Thr90Ile)	GNPTG (T90I)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 990356	NM_032520.5(GNPTG):c.94G>A (p.Glu32Lys)	GNPTG, LOC130058158 (E32K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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