ClinVar for Gene (Select 158) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 868

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346557	NM_000026.4(ADSL):c.1040C>A (p.Thr347Asn)	ADSL (T283N +2 more)	Single nucleotide variant (missense variant +1 more)	ADSL-related disorder	GUncertain significance
Select item 3273986	NM_000026.4(ADSL):c.874A>G (p.Met292Val)	ADSL (M292V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251370	NC_000022.10:g.(40757640_40758984)_(40761061_40762439)del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GPathogenic
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3247238	NC_000022.10:g.(?_40754848)_(40762526_?)del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GPathogenic
Select item 3247227	NC_000022.10:g.(?_40749057)_(40756516_?)del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GPathogenic
Select item 3067911	NM_000026.4(ADSL):c.94G>T (p.Asp32Tyr)	ADSL (D32Y)	Single nucleotide variant (missense variant +2 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3029710	NM_000026.4(ADSL):c.57C>A (p.Ser19=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	ADSL-related disorder	GLikely benign
Select item 3021658	NM_000026.4(ADSL):c.633C>G (p.Leu211=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 3019928	NM_000026.4(ADSL):c.655-16G>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 3019094	NM_000026.4(ADSL):c.39C>T (p.Tyr13=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2998317	NM_000026.4(ADSL):c.908G>A (p.Arg303His)	ADSL (R239H +2 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2995108	NM_000026.4(ADSL):c.990A>G (p.Thr330=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2990106	NM_000026.4(ADSL):c.862+14A>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2954856	NM_000026.4(ADSL):c.402+12G>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2918866	NM_000026.4(ADSL):c.414G>C (p.Val138=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2916297	NM_000026.4(ADSL):c.1152C>T (p.Asn384=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2912936	NM_000026.4(ADSL):c.1062G>A (p.Thr354=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2910653	NM_000026.4(ADSL):c.863-12T>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2905140	NM_000026.4(ADSL):c.655-14C>A	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2895632	NM_000026.4(ADSL):c.483-14C>T	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2882088	NM_000026.4(ADSL):c.831G>A (p.Glu277=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2867340	NM_000026.4(ADSL):c.1368G>A (p.Gln456=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2866478	NM_000026.4(ADSL):c.483-13T>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2865007	NC_000022.11:g.40345998C>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2859606	NM_000026.4(ADSL):c.701+16T>A	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2854848	NM_000026.4(ADSL):c.372del (p.Arg125fs)	ADSL (R61fs +1 more)	Deletion (frameshift variant +2 more)	Adenylosuccinate lyase deficiency	GPathogenic
Select item 2852078	NM_000026.4(ADSL):c.793-19A>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2848317	NM_000026.4(ADSL):c.1102-12C>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2845842	NC_000022.11:g.40346450C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2834335	NM_000026.4(ADSL):c.60C>T (p.Arg20=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2830659	NM_000026.4(ADSL):c.792+17T>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2819670	NM_000026.4(ADSL):c.1080A>G (p.Glu360=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2804229	NM_000026.4(ADSL):c.1369-19A>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2803030	NM_000026.4(ADSL):c.1338T>G (p.Pro446=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2795309	NM_000026.4(ADSL):c.555C>T (p.Asn185=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2793940	NM_000026.4(ADSL):c.225G>A (p.Lys75=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2785450	NM_000026.4(ADSL):c.282A>G (p.Thr94=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2783682	NC_000022.11:g.40345895G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2783157	NM_000026.4(ADSL):c.1010+1G>C	ADSL	Single nucleotide variant (non-coding transcript variant +1 more)	Adenylosuccinate lyase deficiency	GLikely pathogenic
Select item 2781922	NM_000026.4(ADSL):c.837G>A (p.Glu279=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2779837	NM_000026.4(ADSL):c.793-13C>T	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2778001	NM_000026.4(ADSL):c.885G>A (p.Lys295=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2777099	NM_000026.4(ADSL):c.154-12C>T	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2770729	NM_000026.4(ADSL):c.1192-11T>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2769150	NM_000026.4(ADSL):c.1029G>A (p.Glu343=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2768537	NC_000022.11:g.40345726G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2757782	NM_000026.4(ADSL):c.1368+18C>T	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2752273	NM_000026.4(ADSL):c.1346dup (p.Thr450fs)	ADSL (T386fs +2 more)	Duplication (frameshift variant +2 more)	Adenylosuccinate lyase deficiency	GPathogenic
Select item 2750958	NM_000026.4(ADSL):c.1317G>A (p.Gln439=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2731123	NM_000026.4(ADSL):c.863-11dup	ADSL	Duplication (intron variant)	Adenylosuccinate lyase deficiency	GBenign
Select item 2727035	NM_000026.4(ADSL):c.153+10C>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2725588	NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter)	ADSL (Q439* +2 more)	Single nucleotide variant (nonsense +2 more)	Adenylosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 2725586	NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)	ADSL (R126G +2 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 2723235	NC_000022.11:g.40346188G>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2714227	NC_000022.11:g.40345622_40345627del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2705022	NM_000026.4(ADSL):c.393T>C (p.Leu131=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2696134	NM_000026.4(ADSL):c.862+9T>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2693812	NM_000026.4(ADSL):c.576C>A (p.Asp192Glu)	ADSL (D128E +2 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2550079	NM_000026.4(ADSL):c.242A>G (p.Glu81Gly)	ADSL (E17G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506273	NM_000026.4(ADSL):c.482+1G>C	ADSL	Single nucleotide variant (splice donor variant)	Adenylosuccinate lyase deficiency	GLikely pathogenic
Select item 2426625	NC_000022.10:g.(?_40741451)_(40859231_?)dup	ADSL, MRTFA +1 more	Duplication	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2422149	NC_000022.10:g.(?_40741451)_(40756516_?)del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GPathogenic
Select item 2421612	NM_000026.4(ADSL):c.621T>C (p.Ser207=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2418827	NM_000026.4(ADSL):c.357+15_357+22dup	ADSL	Duplication (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2416084	NC_000022.11:g.40346222C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2415555	NC_000022.11:g.40346283_40346292del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2415042	NM_000026.4(ADSL):c.1368+14A>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2414743	NM_000026.4(ADSL):c.1452G>C (p.Leu484=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2275032	NM_000026.4(ADSL):c.694T>G (p.Phe232Val)	ADSL (F168V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236349	NM_000026.4(ADSL):c.881A>G (p.Tyr294Cys)	ADSL (Y230C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232724	NM_000026.4(ADSL):c.739G>A (p.Val247Met)	ADSL (V232M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201989	NM_000026.4(ADSL):c.153+16C>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2201075	NC_000022.11:g.40346472C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2197965	NM_000026.4(ADSL):c.1192-20A>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2197387	NC_000022.11:g.40346420C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2196887	NM_000026.4(ADSL):c.770G>A (p.Ser257Asn)	ADSL (S193N +2 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2196175	NC_000022.11:g.40346389G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2194336	NM_000026.4(ADSL):c.248G>A (p.Arg83His)	ADSL (R83H +1 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2191494	NC_000022.11:g.40346406T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2187561	NM_000026.4(ADSL):c.403-21_403-6del	ADSL	Deletion (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2185515	NM_000026.4(ADSL):c.483-19G>A	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2184519	NC_000022.11:g.40346245T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2184366	NM_000026.4(ADSL):c.702-5C>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2180769	NC_000022.11:g.40346350C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2179446	NM_000026.4(ADSL):c.403-16A>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2175224	NM_000026.4(ADSL):c.1286T>C (p.Val429Ala)	ADSL (V365A +2 more)	Single nucleotide variant (missense variant +2 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2169329	NC_000022.11:g.40346398A>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2166655	NM_000026.4(ADSL):c.701+3A>G	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2162930	NM_000026.4(ADSL):c.-37C>T	ADSL	Single nucleotide variant (5 prime UTR variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2161241	NC_000022.11:g.40346453G>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2159766	NM_000026.4(ADSL):c.954G>A (p.Pro318=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency	GLikely benign
Select item 2159469	NM_000026.4(ADSL):c.511C>T (p.Arg171Cys)	ADSL (R107C +2 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2154932	NM_000026.4(ADSL):c.445C>T (p.Arg149Ter)	ADSL (R85* +2 more)	Single nucleotide variant (nonsense +1 more)	Adenylosuccinate lyase deficiency	GPathogenic
Select item 2149411	NC_000022.11:g.40346424G>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2147634	NC_000022.11:g.40346135T>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance

<< First< Prev

Page of 9