"GeneDx"[submitter] AND "MCOLN1"[gene] - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 1207393	NC_000019.10:g.7522422C>G	MCOLN1	Single nucleotide variant	not provided	GLikely benign
Select item 1224780	NC_000019.10:g.7522487G>A	MCOLN1	Single nucleotide variant	not provided	GBenign
Select item 1307509	NM_020533.3(MCOLN1):c.17G>T (p.Gly6Val)	LOC130063376, MCOLN1 (G6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214678	NM_020533.3(MCOLN1):c.31+129G>A	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2412966	NM_020533.3(MCOLN1):c.98C>T (p.Pro33Leu)	MCOLN1 (P33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5136	NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	MCOLN1 (R102*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 780173	NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln)	MCOLN1 (R102Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817247	NM_020533.3(MCOLN1):c.321_328del (p.Tyr109fs)	MCOLN1 (Y109fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2201565	NM_020533.3(MCOLN1):c.329C>T (p.Ser110Leu)	MCOLN1 (S110L)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GUncertain significance
Select item 1307302	NM_020533.3(MCOLN1):c.365G>A (p.Arg122Gln)	MCOLN1 (R122Q)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +2 more	GConflicting classifications of pathogenicity
Select item 419813	NM_020533.3(MCOLN1):c.405+1G>A	MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV +1 more	GPathogenic/Likely pathogenic
Select item 330489	NM_020533.3(MCOLN1):c.405+13G>A	MCOLN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1186191	NM_020533.3(MCOLN1):c.405+66C>T	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221101	NM_020533.3(MCOLN1):c.405+73G>T	MCOLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1172996	NM_020533.3(MCOLN1):c.406-38G>A	MCOLN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 5131	NM_020533.3(MCOLN1):c.406-2A>G	MCOLN1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 1198057	NM_020533.3(MCOLN1):c.571+76C>T	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235114	NM_020533.3(MCOLN1):c.571+91A>G	MCOLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252408	NM_020533.3(MCOLN1):c.571+206C>T	MCOLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259320	NM_020533.3(MCOLN1):c.572-225dup	MCOLN1	Duplication (intron variant)	not provided	GBenign
Select item 1235610	NM_020533.3(MCOLN1):c.572-249C>A	MCOLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200646	NM_020533.3(MCOLN1):c.572-226_572-225dup	MCOLN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1284006	NM_020533.3(MCOLN1):c.572-226_572-225del	MCOLN1	Deletion (intron variant)	not provided	GBenign
Select item 1280396	NM_020533.3(MCOLN1):c.572-225del	MCOLN1	Deletion (intron variant)	not provided	GBenign
Select item 1211304	NM_020533.3(MCOLN1):c.572-225A>C	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280304	NM_020533.3(MCOLN1):c.615dup (p.Ser206fs)	MCOLN1 (S206fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 894155	NM_020533.3(MCOLN1):c.680+14A>T	MCOLN1	Single nucleotide variant (intron variant)	Mucolipidosis type IV +1 more	GBenign/Likely benign
Select item 330493	NM_020533.3(MCOLN1):c.771C>A (p.Ser257Arg)	MCOLN1 (S257R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1217497	NM_020533.3(MCOLN1):c.777+94C>T	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496447	NM_020533.3(MCOLN1):c.777+99G>A	MCOLN1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 283177	NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)	MCOLN1 (T261M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2041828	NM_020533.3(MCOLN1):c.838C>T (p.His280Tyr)	MCOLN1 (H280Y)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GUncertain significance
Select item 828088	NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)	MCOLN1 (H286N)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GConflicting classifications of pathogenicity
Select item 558939	NM_020533.3(MCOLN1):c.877+26A>G	MCOLN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 5133	NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	MCOLN1 (R322*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV +2 more	GPathogenic/Likely pathogenic
Select item 261323	NM_020533.3(MCOLN1):c.966A>C (p.Arg322=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV +2 more	GBenign/Likely benign
Select item 261324	NM_020533.3(MCOLN1):c.984C>T (p.Asn328=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV +2 more	GBenign
Select item 503973	NM_020533.3(MCOLN1):c.1017_1020del (p.Arg340fs)	MCOLN1 (R340fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 370970	NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)	MCOLN1 (F350fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 459179	NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=)	MCOLN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1229406	NM_020533.3(MCOLN1):c.1236+71G>A	MCOLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182420	NM_020533.3(MCOLN1):c.1236+159C>A	MCOLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218979	NM_020533.3(MCOLN1):c.1237-154C>T	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 558941	NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=)	MCOLN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 452577	NM_020533.3(MCOLN1):c.1279C>T (p.Arg427Cys)	MCOLN1 (R427C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 426811	NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)	MCOLN1 (V446M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1179670	NM_020533.3(MCOLN1):c.1359+186A>G	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262327	NM_020533.3(MCOLN1):c.1360-117_1360-98del	MCOLN1	Deletion (intron variant)	not provided	GBenign
Select item 1172997	NM_020533.3(MCOLN1):c.1360-98A>G	MCOLN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172998	NM_020533.3(MCOLN1):c.1360-51C>T	MCOLN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 330504	NM_020533.3(MCOLN1):c.1360-13G>A	MCOLN1, PNPLA6	Single nucleotide variant (intron variant)	Spastic Paraplegia, Recessive +2 more	GBenign/Likely benign
Select item 1172999	NM_020533.3(MCOLN1):c.1575+69G>A	MCOLN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189126	NM_020533.3(MCOLN1):c.1576-29A>G	MCOLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291244	NM_020533.3(MCOLN1):c.1706+40G>C	MCOLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 369302	NM_006702.5(PNPLA6):c.-261T>C	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	Mucolipidosis type IV +2 more	GBenign
Select item 369303	NM_006702.5(PNPLA6):c.-214C>T	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	Mucolipidosis type IV +2 more	GBenign/Likely benign
Select item 330509	NM_006702.5(PNPLA6):c.-96A>C	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	Mucolipidosis type IV +3 more	GBenign/Likely benign
Select item 281419	NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)	MCOLN1, PNPLA6 (V19A +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 240703	NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)	MCOLN1, PNPLA6 (V22L +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 330512	NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)	MCOLN1, PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 3359738	NM_020533.3(MCOLN1):c.587A>C (p.Asp196Ala)	MCOLN1 (D196A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62