ClinVar for Gene (Select 23178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208925	NM_015148.4(PASK):c.989C>T (p.Ala330Val)	PASK (A330V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208924	NM_015148.4(PASK):c.988G>A (p.Ala330Thr)	PASK (A330T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208923	NM_015148.4(PASK):c.927C>G (p.Phe309Leu)	PASK (F309L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208922	NM_015148.4(PASK):c.775C>T (p.His259Tyr)	PASK (H259Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208921	NM_015148.4(PASK):c.550G>A (p.Glu184Lys)	PASK (E184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208920	NM_015148.4(PASK):c.499C>T (p.Leu167Phe)	PASK (L167F)	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 3208917	NM_015148.4(PASK):c.373G>A (p.Ala125Thr)	PASK (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 3208905	NM_015148.4(PASK):c.250A>C (p.Thr84Pro)	PASK (T84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3208903	NM_015148.4(PASK):c.2126C>T (p.Thr709Met)	LOC132088835, PASK (T674M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208902	NM_015148.4(PASK):c.2039C>T (p.Ala680Val)	PASK (A680V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208901	NM_015148.4(PASK):c.2015C>T (p.Ala672Val)	PASK (A637V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208900	NM_015148.4(PASK):c.1957G>A (p.Asp653Asn)	PASK (D653N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208899	NM_015148.4(PASK):c.1838A>G (p.Tyr613Cys)	PASK (Y613C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208898	NM_015148.4(PASK):c.1788G>C (p.Gln596His)	PASK (Q596H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208897	NM_015148.4(PASK):c.1352G>A (p.Arg451Gln)	PASK (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208896	NM_015148.4(PASK):c.1271C>T (p.Pro424Leu)	PASK (P389L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208895	NM_015148.4(PASK):c.125C>T (p.Ser42Phe)	PASK (S42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208894	NM_015148.4(PASK):c.103G>C (p.Ala35Pro)	PASK (A35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3054285	NM_015148.4(PASK):c.274G>C (p.Ala92Pro)	PASK (A92P)	Single nucleotide variant (missense variant)	PASK-related disorder	GLikely benign
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 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 2685890	GRCh37/hg19 2q37.3(chr2:242016780-242193127)x3	ANO7, HDLBP +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2685008	GRCh37/hg19 2q37.3(chr2:241875829-242045631)x1	MTERF4, PASK +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652109	NM_015148.4(PASK):c.1794G>A (p.Lys598=)	PASK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637030	NM_015148.4(PASK):c.741+6T>C	PASK	Single nucleotide variant (intron variant)	PASK-related disorder	GUncertain significance
Select item 2635233	NM_015148.4(PASK):c.1039G>A (p.Gly347Ser)	PASK (G312S +1 more)	Single nucleotide variant (missense variant)	PASK-related disorder	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 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 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 2601227	NM_015148.4(PASK):c.1396G>A (p.Gly466Arg)	LOC129935998, PASK (G431R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2558130	NM_015148.4(PASK):c.1007G>A (p.Arg336Gln)	PASK (R336Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540912	NM_015148.4(PASK):c.1277A>G (p.Gln426Arg)	PASK (Q391R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539399	NM_015148.4(PASK):c.2027A>C (p.Asp676Ala)	PASK (D641A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531414	NM_015148.4(PASK):c.1826A>G (p.His609Arg)	PASK (H574R +1 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 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 2514580	NM_015148.4(PASK):c.1914T>G (p.Phe638Leu)	PASK (F603L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 2464360	NM_015148.4(PASK):c.577G>T (p.Ala193Ser)	PASK (A193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463544	NM_015148.4(PASK):c.1066A>T (p.Thr356Ser)	PASK (T321S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462652	NM_015148.4(PASK):c.1909T>A (p.Ser637Thr)	PASK (S637T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2397088	NM_015148.4(PASK):c.1955A>G (p.Asn652Ser)	PASK (N617S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2378792	NM_015148.4(PASK):c.2227C>T (p.Leu743Phe)	LOC132088835, PASK (L708F +1 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 2372666	NM_015148.4(PASK):c.407C>T (p.Thr136Met)	PASK (T136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360239	NM_015148.4(PASK):c.638T>C (p.Val213Ala)	PASK (V213A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2344829	NM_015148.4(PASK):c.1724G>A (p.Arg575Gln)	PASK (R540Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341569	NM_015148.4(PASK):c.307G>A (p.Gly103Ser)	PASK (G103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328263	NM_015148.4(PASK):c.634C>T (p.Pro212Ser)	PASK (P212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320961	NM_015148.4(PASK):c.727G>T (p.Ala243Ser)	PASK (A243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2309322	NM_015148.4(PASK):c.1715A>G (p.Gln572Arg)	PASK (Q572R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305563	NM_015148.4(PASK):c.241A>C (p.Asn81His)	PASK (N81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294680	NM_015148.4(PASK):c.1794G>C (p.Lys598Asn)	PASK (K598N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289457	NM_015148.4(PASK):c.1810G>T (p.Gly604Cys)	PASK (G604C +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 2283077	NM_015148.4(PASK):c.784G>T (p.Gly262Trp)	PASK (G262W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276897	NM_015148.4(PASK):c.2109C>A (p.Asp703Glu)	LOC132088835, PASK (D668E +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 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 2264087	NM_015148.4(PASK):c.577G>A (p.Ala193Thr)	PASK (A193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264006	NM_015148.4(PASK):c.550G>C (p.Glu184Gln)	PASK (E184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2241775	NM_015148.4(PASK):c.39G>C (p.Gln13His)	PASK (Q13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2227590	NM_015148.4(PASK):c.1841G>A (p.Gly614Glu)	PASK (G579E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227166	NM_015148.4(PASK):c.2129G>A (p.Gly710Asp)	LOC132088835, PASK (G675D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224169	NM_015148.4(PASK):c.1805C>T (p.Ala602Val)	PASK (A567V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2220376	NM_015148.4(PASK):c.1531A>G (p.Ile511Val)	PASK, LOC132088836 (I476V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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