ClinVar for MedGen (Select 419311) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 425

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019845	NM_153603.4(COG7):c.2088G>A (p.Ala696=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 3017911	NM_153603.4(COG7):c.1215C>T (p.Ala405=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 3017106	NM_153603.4(COG7):c.1009+14C>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 3015976	NM_153603.4(COG7):c.1888-15T>C	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 3009412	NM_153603.4(COG7):c.117C>T (p.Thr39=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 3002209	NM_153603.4(COG7):c.2147-9C>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 3002013	NM_153603.4(COG7):c.169+20G>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2983271	NM_153603.4(COG7):c.436-11G>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2983042	NM_153603.4(COG7):c.399G>A (p.Thr133=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2980870	NM_153603.4(COG7):c.1560C>T (p.Asp520=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2975012	NM_153603.4(COG7):c.984G>A (p.Leu328=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2960355	NM_153603.4(COG7):c.604+20C>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2958773	NM_153603.4(COG7):c.1010-18A>G	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2919270	NM_153603.4(COG7):c.110C>T (p.Ala37Val)	COG7, LOC130058658 (A37V)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2918025	NM_153603.4(COG7):c.2094A>G (p.Leu698=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2916200	NM_153603.4(COG7):c.1815G>A (p.Thr605=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2912707	NM_153603.4(COG7):c.1663-15A>G	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2911831	NM_153603.4(COG7):c.1307T>G (p.Phe436Cys)	COG7 (F436C)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2909053	NM_153603.4(COG7):c.1062A>G (p.Pro354=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2907933	NM_153603.4(COG7):c.882G>A (p.Leu294=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2907791	NM_153603.4(COG7):c.1522C>T (p.Arg508Trp)	COG7 (R508W)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2904379	NM_153603.4(COG7):c.21G>A (p.Leu7=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2903597	NM_153603.4(COG7):c.614A>C (p.Lys205Thr)	COG7 (K205T)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2901871	NM_153603.4(COG7):c.1138-4C>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2901195	NM_153603.4(COG7):c.1674A>T (p.Ser558=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2895453	NM_153603.4(COG7):c.688-10G>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2894495	NM_153603.4(COG7):c.1482G>A (p.Leu494=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2893322	NM_153603.4(COG7):c.336C>T (p.Asp112=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2887097	NM_153603.4(COG7):c.901G>A (p.Gly301Ser)	COG7 (G301S)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2886556	NM_153603.4(COG7):c.1890C>T (p.Ile630=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2878691	NM_153603.4(COG7):c.845T>C (p.Leu282Pro)	COG7 (L282P)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2873841	NM_153603.4(COG7):c.810+17G>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2869586	NM_153603.4(COG7):c.2287G>T (p.Ala763Ser)	COG7 (A763S)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2866658	NM_153603.4(COG7):c.2003-13del	COG7	Deletion (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2853940	NM_153603.4(COG7):c.300C>T (p.Asp100=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2853611	NM_153603.4(COG7):c.169+8G>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2848475	NM_153603.4(COG7):c.436-9C>G	COG7	Single nucleotide variant (intron variant)	COG7-related condition +1 more	GLikely benign
Select item 2831754	NM_153603.4(COG7):c.2146+9C>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2829938	NM_153603.4(COG7):c.1068A>G (p.Lys356=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2829600	NM_153603.4(COG7):c.1138-17C>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2828263	NM_153603.4(COG7):c.2146+8C>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2820298	NM_153603.4(COG7):c.604+13T>G	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2818927	NM_153603.4(COG7):c.1635T>C (p.Ser545=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2818619	NM_153603.4(COG7):c.1662+7G>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2817950	NM_153603.4(COG7):c.318+20C>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2815407	NM_153603.4(COG7):c.810+20del	COG7	Deletion (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2814648	NM_153603.4(COG7):c.844C>T (p.Leu282=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2813996	NM_153603.4(COG7):c.848T>G (p.Leu283Arg)	COG7 (L283R)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2813995	NM_153603.4(COG7):c.1808G>A (p.Trp603Ter)	COG7 (W603*)	Single nucleotide variant (nonsense)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2808879	NM_153603.4(COG7):c.81G>A (p.Glu27=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2806070	NM_153603.4(COG7):c.435+20G>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2805910	NM_153603.4(COG7):c.1260C>T (p.Gly420=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2805445	NM_153603.4(COG7):c.1422C>T (p.Thr474=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2802966	NM_153603.4(COG7):c.1476-7A>G	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2800086	NM_153603.4(COG7):c.1524G>A (p.Arg508=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2798190	NM_153603.4(COG7):c.468T>C (p.Gly156=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2785059	NM_153603.4(COG7):c.1515C>T (p.Cys505=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2783338	NM_153603.4(COG7):c.792A>G (p.Gln264=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2775952	NM_153603.4(COG7):c.1498dup (p.Tyr500fs)	COG7 (Y500fs)	Duplication (frameshift variant)	COG7 congenital disorder of glycosylation	GPathogenic
Select item 2773270	NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)	COG7 (L595*)	Single nucleotide variant (nonsense)	COG7 congenital disorder of glycosylation	GPathogenic
Select item 2769115	NM_153603.4(COG7):c.1311C>T (p.Thr437=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2768042	NM_153603.4(COG7):c.1888-13dup	COG7	Duplication (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2763147	NM_153603.4(COG7):c.75C>T (p.Ser25=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2746993	NM_153603.4(COG7):c.1227C>T (p.Cys409=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2741427	NM_153603.4(COG7):c.1746T>C (p.Ala582=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2739584	NM_153603.4(COG7):c.564C>T (p.Ala188=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2730796	NM_153603.4(COG7):c.2003-9T>G	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2726020	NM_153603.4(COG7):c.123G>A (p.Val41=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2709488	NM_153603.4(COG7):c.120G>A (p.Leu40=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2704365	NM_153603.4(COG7):c.966C>T (p.Ala322=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2701781	NM_153603.4(COG7):c.811-16C>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2698302	NM_153603.4(COG7):c.1645A>G (p.Ile549Val)	COG7 (I549V)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2696340	NM_153603.4(COG7):c.811-7A>G	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2694235	NM_153603.4(COG7):c.1776A>G (p.Gln592=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2505114	NM_153603.4(COG7):c.1330C>T (p.Arg444Ter)	COG7 (R444*)	Single nucleotide variant (nonsense)	COG7 congenital disorder of glycosylation	Gnot provided
Select item 2498655	NM_153603.4(COG7):c.1456G>A (p.Glu486Lys)	COG7 (E486K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428102	NM_153603.4(COG7):c.37G>T (p.Val13Leu)	COG7, LOC130058658 (V13L)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2427432	NC_000016.9:g.(?_23193865)_(23652612_?)del	COG7, EARS2 +6 more	Deletion	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2421513	NM_153603.4(COG7):c.1448G>A (p.Gly483Glu)	COG7 (G483E)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2420834	NM_153603.4(COG7):c.66G>A (p.Arg22=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2418464	NM_153603.4(COG7):c.1920T>C (p.Asn640=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2417492	NM_153603.4(COG7):c.2209G>A (p.Val737Met)	COG7 (V737M)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2414322	NM_153603.4(COG7):c.1293-5G>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2201770	NM_153603.4(COG7):c.1409+15G>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2201571	NM_153603.4(COG7):c.435+16A>G	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2200731	NM_153603.4(COG7):c.1709C>T (p.Ala570Val)	COG7 (A570V)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2200340	NM_153603.4(COG7):c.2147-11C>T	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2199114	NM_153603.4(COG7):c.938G>A (p.Arg313Lys)	COG7 (R313K)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2198371	NM_153603.4(COG7):c.2304G>A (p.Val768=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2197946	NM_153603.4(COG7):c.605A>G (p.Asp202Gly)	COG7 (D202G)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2197119	NM_153603.4(COG7):c.2243G>A (p.Arg748Lys)	COG7 (R748K)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2194063	NM_153603.4(COG7):c.1064A>T (p.Tyr355Phe)	COG7 (Y355F)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2194007	NM_153603.4(COG7):c.1563G>C (p.Lys521Asn)	COG7 (K521N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2192204	NM_153603.4(COG7):c.2293A>G (p.Met765Val)	COG7 (M765V)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2190924	NM_153603.4(COG7):c.1009C>T (p.His337Tyr)	COG7 (H337Y)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2190834	NM_153603.4(COG7):c.795C>G (p.Ile265Met)	COG7 (I265M)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2186989	NM_153603.4(COG7):c.1259G>C (p.Gly420Ala)	COG7 (G420A)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2184930	NM_153603.4(COG7):c.438C>G (p.Asp146Glu)	COG7 (D146E)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2184658	NM_153603.4(COG7):c.664G>A (p.Ala222Thr)	COG7 (A222T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2184038	NM_153603.4(COG7):c.1872C>T (p.Leu624=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GUncertain significance

<< First< Prev

Page of 5