Related gene-specific medical variations for Gene (Select 2588) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 198

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233394	NM_000512.5(GALNS):c.283A>G (p.Asn95Asp)	GALNS (N101D +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 3065816	NM_000512.5(GALNS):c.1140-2A>G	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 3065268	NM_000512.5(GALNS):c.460C>A (p.His154Asn)	GALNS (H154N +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 3047892	NM_000512.5(GALNS):c.1440C>G (p.Val480=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	GALNS-related disorder	GLikely benign
Select item 3009051	NM_000512.5(GALNS):c.1446G>A (p.Ala482=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3008368	NM_000512.5(GALNS):c.1365-14CT[2]	LOC126862447, GALNS	Microsatellite (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2998847	NM_000512.5(GALNS):c.102G>T (p.Leu34=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2997167	NM_000512.5(GALNS):c.1440C>T (p.Val480=)	LOC126862447, GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2992969	NM_000512.5(GALNS):c.21G>C (p.Ala7=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2987250	NM_000512.5(GALNS):c.1365-20C>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2985168	NM_000512.5(GALNS):c.96C>T (p.Asn32=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2913973	NM_000512.5(GALNS):c.87G>A (p.Gln29=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2910913	NM_000512.5(GALNS):c.120+8C>G	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2910701	NM_000512.5(GALNS):c.120+12C>G	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2909685	NM_000512.5(GALNS):c.1464G>A (p.Val488=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2904672	NM_000512.5(GALNS):c.120+20C>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2893994	NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)	TRAPPC2L, GALNS +1 more	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2892199	NM_000512.5(GALNS):c.1467C>T (p.Cys489=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2890998	NM_000512.5(GALNS):c.111C>T (p.Leu37=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2883150	NM_000512.5(GALNS):c.60G>A (p.Ala20=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2877423	NM_000512.5(GALNS):c.120+13G>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2870184	NM_000512.5(GALNS):c.1482+9C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2848076	NM_000512.5(GALNS):c.81C>T (p.Ala27=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2839458	NM_000512.5(GALNS):c.1365-19C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2839160	NM_000512.5(GALNS):c.45G>A (p.Leu15=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2834634	NM_000512.5(GALNS):c.1482+5G>C	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2832315	NM_000512.5(GALNS):c.1422G>A (p.Gln474=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2831370	NC_000016.10:g.88856801_88856960del	GALNS, LOC130059762 +1 more	Deletion (genic upstream transcript variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2823616	NM_000512.5(GALNS):c.1365-9T>C	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2806315	NM_000512.5(GALNS):c.100C>T (p.Leu34=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2802798	NM_000512.5(GALNS):c.42G>A (p.Leu14=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2801276	NM_000512.5(GALNS):c.1434C>T (p.Ala478=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2794084	NM_000512.5(GALNS):c.18G>T (p.Ala6=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2785603	NM_000512.5(GALNS):c.84G>C (p.Pro28=)	TRAPPC2L, GALNS +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2776836	NM_000512.5(GALNS):c.93del (p.Asn32fs)	TRAPPC2L, GALNS +1 more (N32fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2772002	NM_000512.5(GALNS):c.2T>C (p.Met1Thr)	GALNS, LOC130059762 +1 more (M1T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2770279	NM_000512.5(GALNS):c.1398C>T (p.Ser466=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2769612	NM_000512.5(GALNS):c.1365-17G>C	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2754825	NM_000512.5(GALNS):c.21G>A (p.Ala7=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2754158	NM_000512.5(GALNS):c.9G>T (p.Ala3=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2753827	NM_000512.5(GALNS):c.120+9G>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2752824	NM_000512.5(GALNS):c.63G>T (p.Gly21=)	LOC130059762, TRAPPC2L +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2746830	NM_000512.5(GALNS):c.24G>C (p.Thr8=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2738586	NM_000512.5(GALNS):c.15C>A (p.Val5=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2735510	NM_000512.5(GALNS):c.1365-10C>T	LOC126862447, GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2730756	NM_000512.5(GALNS):c.1407C>G (p.Thr469=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2729269	NM_000512.5(GALNS):c.102G>C (p.Leu34=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2720647	NM_000512.5(GALNS):c.120+13G>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2715634	NM_000512.5(GALNS):c.1392C>A (p.Ala464=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2699439	NM_000512.5(GALNS):c.120+19_120+29del	GALNS, LOC130059762 +1 more	Deletion (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2695017	NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)	GALNS, LOC126862447 (H290fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2694029	NM_000512.5(GALNS):c.1482+2T>C	GALNS, LOC126862447	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2693180	NM_000512.5(GALNS):c.105C>A (p.Leu35=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2692962	NM_000512.5(GALNS):c.120+12C>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2690605	NM_000512.5(GALNS):c.892del (p.Glu298fs)	GALNS (E113fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2689109	NM_000512.5(GALNS):c.385AAG[1] (p.Lys130del)	GALNS (K130del +1 more)	Microsatellite (inframe_deletion +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2663939	NM_000512.5(GALNS):c.1374dup (p.Ala459fs)	GALNS, LOC126862447 (A274fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2647013	NM_000512.5(GALNS):c.1458C>T (p.Leu486=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2628470	NM_000512.5(GALNS):c.1451C>A (p.Pro484His)	GALNS, LOC126862447 (P299H +2 more)	Single nucleotide variant (missense variant)	GALNS-related disorder	GUncertain significance
Select item 2627396	NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)	LOC126862447, GALNS (E278* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2572062	NM_000512.5(GALNS):c.1365-2A>G	GALNS, LOC126862447	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2503413	NM_000512.5(GALNS):c.285dup (p.Gly96fs)	GALNS (G102fs +1 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2440401	NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)	GALNS (S156R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2432030	NM_000512.5(GALNS):c.121-157C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2432028	NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)	GALNS, LOC130059762 +1 more (W11R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2432027	NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)	GALNS (W141R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2432026	NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)	GALNS (P163L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2432025	NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)	GALNS, LOC130059762 +1 more (D40Y)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2432024	NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)	GALNS (I178T +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2419818	NM_000512.5(GALNS):c.75G>C (p.Ser25=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2155563	NM_000512.5(GALNS):c.105C>G (p.Leu35=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2139310	NM_000512.5(GALNS):c.120+13G>A	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GBenign
Select item 2029314	NM_000512.5(GALNS):c.120+19A>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2016097	NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)	GALNS, LOC126862447 (W497* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1984427	NM_000512.5(GALNS):c.46G>T (p.Val16Leu)	TRAPPC2L, GALNS +1 more (V16L)	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1707280	NM_000512.5(GALNS):c.1482+37G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679889	NM_000512.5(GALNS):c.1445C>T (p.Ala482Val)	GALNS, LOC126862447 (A297V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1643967	NM_000512.5(GALNS):c.90C>G (p.Pro30=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1637500	NM_000512.5(GALNS):c.1461C>T (p.Asn487=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1627240	NM_000512.5(GALNS):c.1365-4C>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1618474	NM_000512.5(GALNS):c.1365-20C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1614507	NM_000512.5(GALNS):c.1410G>C (p.Ser470=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1594462	NM_000512.5(GALNS):c.120+14G>A	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1588623	NM_000512.5(GALNS):c.1410G>T (p.Ser470=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1577482	NM_000512.5(GALNS):c.1414G>A (p.Val472Ile)	GALNS, LOC126862447 (V287I +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1561410	NM_000512.5(GALNS):c.39G>A (p.Leu13=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1500978	NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg)	GALNS, LOC126862447 (W497R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1468146	NM_000512.5(GALNS):c.100C>G (p.Leu34Val)	GALNS, LOC130059762 +1 more (L34V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1460783	NM_000512.5(GALNS):c.112A>C (p.Met38Leu)	GALNS, LOC130059762 +1 more (M38L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1455571	NM_000512.5(GALNS):c.115_116del (p.Asp39fs)	GALNS, LOC130059762 +1 more (D39fs)	Deletion (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1453466	NM_000512.5(GALNS):c.1A>T (p.Met1Leu)	GALNS, LOC130059762 +1 more (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1443737	NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)	GALNS, LOC126862447 (A307V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1441991	NM_000512.5(GALNS):c.13G>A (p.Val5Ile)	GALNS, LOC130059762 +1 more (V5I)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1440592	NM_000512.5(GALNS):c.23C>G (p.Thr8Arg)	GALNS, LOC130059762 +1 more (T8R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1381876	NM_000512.5(GALNS):c.1476G>A (p.Ala492=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1369626	NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)	GALNS, LOC126862447 (M494T +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1353265	NM_000512.5(GALNS):c.47T>G (p.Val16Gly)	GALNS, LOC130059762 +1 more (V16G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1324449	NM_000512.5(GALNS):c.675_676del (p.Phe227fs)	GALNS (F227fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1322978	NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter)	GALNS (W218* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1297859	NM_000512.5(GALNS):c.1365-129A>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2