PASK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 59179	GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3	LOC129936008, LOC129936009 +47 more	Copy number gain	See cases	GPathogenic
Select item 717179	NM_015148.4(PASK):c.3956G>A (p.Arg1319His)	PASK (R1284H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2285757	NM_015148.4(PASK):c.3941A>C (p.His1314Pro)	PASK (H1321P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728855	NM_015148.4(PASK):c.3927C>T (p.Gly1309=)	PASK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222480	NM_015148.4(PASK):c.3861C>G (p.Ser1287Arg)	PASK (S1252R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208919	NM_015148.4(PASK):c.3860G>A (p.Ser1287Asn)	PASK (S1252N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208918	NM_015148.4(PASK):c.3800G>A (p.Arg1267Gln)	PASK (R1232Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608600	NM_015148.4(PASK):c.3703G>C (p.Val1235Leu)	PASK (V1235L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525573	NM_015148.4(PASK):c.3700C>A (p.Pro1234Thr)	PASK (P1234T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746536	NM_015148.4(PASK):c.3648G>A (p.Pro1216=)	PASK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208916	NM_015148.4(PASK):c.3584C>T (p.Thr1195Met)	PASK (T1195M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266017	NM_015148.4(PASK):c.3563C>T (p.Ser1188Phe)	PASK (S1153F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725051	NM_015148.4(PASK):c.3546G>A (p.Pro1182=)	PASK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 252572	NM_015148.4(PASK):c.3533+1G>A	PASK	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 2631999	NM_015148.4(PASK):c.3533C>T (p.Pro1178Leu)	PASK (P1143L +2 more)	Single nucleotide variant (missense variant)	PASK-related disorder	GUncertain significance
Select item 2289387	NM_015148.4(PASK):c.3520C>T (p.Leu1174Phe)	PASK (L1174F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373003	NM_015148.4(PASK):c.3512C>T (p.Pro1171Leu)	PASK (P1136L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513114	NM_015148.4(PASK):c.3446C>T (p.Ser1149Leu)	PASK (S1114L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741898	NM_015148.4(PASK):c.3359G>A (p.Arg1120His)	PASK (R1085H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2320142	NM_015148.4(PASK):c.3311T>G (p.Leu1104Arg)	PASK (L1069R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214269	NM_015148.4(PASK):c.3274G>A (p.Ala1092Thr)	PASK (A1057T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038965	NM_015148.4(PASK):c.3151T>G (p.Leu1051Val)	PASK (L1016V +1 more)	Single nucleotide variant (missense variant)	PASK-related disorder	GLikely benign
Select item 2242940	NM_015148.4(PASK):c.3103G>T (p.Val1035Phe)	PASK (V1000F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208914	NM_015148.4(PASK):c.3092A>G (p.Lys1031Arg)	PASK (K1031R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359763	NM_015148.4(PASK):c.3091A>G (p.Lys1031Glu)	PASK (K1031E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620792	NM_015148.4(PASK):c.3067A>G (p.Lys1023Glu)	PASK (K988E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354400	NM_015148.4(PASK):c.2998A>G (p.Ser1000Gly)	PASK (S965G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223490	NM_015148.4(PASK):c.2872G>A (p.Ala958Thr)	PASK (A923T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208913	NM_015148.4(PASK):c.2854G>T (p.Gly952Cys)	PASK (G952C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208912	NM_015148.4(PASK):c.2854G>A (p.Gly952Ser)	PASK (G917S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 790259	NM_015148.4(PASK):c.2810G>A (p.Arg937His)	PASK (R937H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240209	NM_015148.4(PASK):c.2713C>T (p.Arg905Trp)	PASK (R870W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777371	NM_015148.4(PASK):c.2695T>C (p.Tyr899His)	PASK (Y864H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3208911	NM_015148.4(PASK):c.2644G>T (p.Ala882Ser)	PASK (A847S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208910	NM_015148.4(PASK):c.2642G>A (p.Gly881Glu)	PASK (G881E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274748	NM_015148.4(PASK):c.2639G>A (p.Arg880His)	PASK (R880H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474230	NM_015148.4(PASK):c.2615C>T (p.Thr872Ile)	PASK (T837I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208909	NM_015148.4(PASK):c.2605G>A (p.Val869Ile)	PASK (V834I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208908	NM_015148.4(PASK):c.2592G>T (p.Glu864Asp)	PASK (E829D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715566	NM_015148.4(PASK):c.2576G>A (p.Cys859Tyr)	PASK (C859Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 788483	NM_015148.4(PASK):c.2574G>A (p.Thr858=)	PASK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2590240	NM_015148.4(PASK):c.2573C>T (p.Thr858Met)	PASK (T858M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788219	NM_015148.4(PASK):c.2549C>T (p.Thr850Met)	PASK (T815M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777372	NM_015148.4(PASK):c.2532A>G (p.Pro844=)	PASK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2385887	NM_015148.4(PASK):c.2530C>T (p.Pro844Ser)	PASK (P809S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522414	NM_015148.4(PASK):c.2518G>A (p.Asp840Asn)	PASK (D805N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208906	NM_015148.4(PASK):c.2516G>A (p.Ser839Asn)	PASK (S804N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217401	NM_015148.4(PASK):c.2440C>T (p.Arg814Trp)	PASK (R779W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382765	NM_015148.4(PASK):c.2432G>A (p.Arg811Gln)	PASK (R811Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479219	NM_015148.4(PASK):c.2383A>T (p.Arg795Trp)	PASK (R760W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787249	NM_015148.4(PASK):c.2367G>A (p.Ser789=)	PASK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717180	NM_015148.4(PASK):c.2344G>C (p.Gly782Arg)	PASK (G747R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3042307	NM_015148.4(PASK):c.2288C>T (p.Thr763Met)	PASK (T728M +1 more)	Single nucleotide variant (missense variant)	PASK-related disorder	GLikely benign
Select item 3208904	NM_015148.4(PASK):c.2245A>G (p.Ser749Gly)	LOC132088835, PASK (S714G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378792	NM_015148.4(PASK):c.2227C>T (p.Leu743Phe)	LOC132088835, PASK (L708F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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