"Ambry Genetics"[submitter] AND "PASK"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2285757	NM_015148.4(PASK):c.3941A>C (p.His1314Pro)	PASK (H1321P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222480	NM_015148.4(PASK):c.3861C>G (p.Ser1287Arg)	PASK (S1252R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608600	NM_015148.4(PASK):c.3703G>C (p.Val1235Leu)	PASK (V1235L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525573	NM_015148.4(PASK):c.3700C>A (p.Pro1234Thr)	PASK (P1234T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266017	NM_015148.4(PASK):c.3563C>T (p.Ser1188Phe)	PASK (S1153F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289387	NM_015148.4(PASK):c.3520C>T (p.Leu1174Phe)	PASK (L1174F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373003	NM_015148.4(PASK):c.3512C>T (p.Pro1171Leu)	PASK (P1136L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513114	NM_015148.4(PASK):c.3446C>T (p.Ser1149Leu)	PASK (S1114L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320142	NM_015148.4(PASK):c.3311T>G (p.Leu1104Arg)	PASK (L1069R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214269	NM_015148.4(PASK):c.3274G>A (p.Ala1092Thr)	PASK (A1057T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242940	NM_015148.4(PASK):c.3103G>T (p.Val1035Phe)	PASK (V1000F +1 more)	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)	Inborn genetic diseases	GUncertain significance
Select item 2620792	NM_015148.4(PASK):c.3067A>G (p.Lys1023Glu)	PASK (K988E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354400	NM_015148.4(PASK):c.2998A>G (p.Ser1000Gly)	PASK (S965G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223490	NM_015148.4(PASK):c.2872G>A (p.Ala958Thr)	PASK (A923T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240209	NM_015148.4(PASK):c.2713C>T (p.Arg905Trp)	PASK (R870W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274748	NM_015148.4(PASK):c.2639G>A (p.Arg880His)	PASK (R880H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474230	NM_015148.4(PASK):c.2615C>T (p.Thr872Ile)	PASK (T837I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590240	NM_015148.4(PASK):c.2573C>T (p.Thr858Met)	PASK (T858M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385887	NM_015148.4(PASK):c.2530C>T (p.Pro844Ser)	PASK (P809S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522414	NM_015148.4(PASK):c.2518G>A (p.Asp840Asn)	PASK (D805N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217401	NM_015148.4(PASK):c.2440C>T (p.Arg814Trp)	PASK (R779W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382765	NM_015148.4(PASK):c.2432G>A (p.Arg811Gln)	PASK (R811Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479219	NM_015148.4(PASK):c.2383A>T (p.Arg795Trp)	PASK (R760W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378792	NM_015148.4(PASK):c.2227C>T (p.Leu743Phe)	LOC132088835, PASK (L708F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227166	NM_015148.4(PASK):c.2129G>A (p.Gly710Asp)	LOC132088835, PASK (G675D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276897	NM_015148.4(PASK):c.2109C>A (p.Asp703Glu)	LOC132088835, PASK (D668E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786813	NM_015148.4(PASK):c.2054C>G (p.Thr685Arg)	PASK (T650R +1 more)	Single nucleotide variant (missense variant)	PASK-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2539399	NM_015148.4(PASK):c.2027A>C (p.Asp676Ala)	PASK (D641A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397088	NM_015148.4(PASK):c.1955A>G (p.Asn652Ser)	PASK (N617S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514580	NM_015148.4(PASK):c.1914T>G (p.Phe638Leu)	PASK (F603L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2462652	NM_015148.4(PASK):c.1909T>A (p.Ser637Thr)	PASK (S637T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227590	NM_015148.4(PASK):c.1841G>A (p.Gly614Glu)	PASK (G579E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531414	NM_015148.4(PASK):c.1826A>G (p.His609Arg)	PASK (H574R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289457	NM_015148.4(PASK):c.1810G>T (p.Gly604Cys)	PASK (G604C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224169	NM_015148.4(PASK):c.1805C>T (p.Ala602Val)	PASK (A567V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2294680	NM_015148.4(PASK):c.1794G>C (p.Lys598Asn)	PASK (K598N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344829	NM_015148.4(PASK):c.1724G>A (p.Arg575Gln)	PASK (R540Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309322	NM_015148.4(PASK):c.1715A>G (p.Gln572Arg)	PASK (Q572R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2220376	NM_015148.4(PASK):c.1531A>G (p.Ile511Val)	LOC132088836, PASK (I476V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601227	NM_015148.4(PASK):c.1396G>A (p.Gly466Arg)	LOC129935998, PASK (G431R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540912	NM_015148.4(PASK):c.1277A>G (p.Gln426Arg)	PASK (Q391R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463544	NM_015148.4(PASK):c.1066A>T (p.Thr356Ser)	PASK (T321S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558130	NM_015148.4(PASK):c.1007G>A (p.Arg336Gln)	PASK (R336Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283077	NM_015148.4(PASK):c.784G>T (p.Gly262Trp)	PASK (G262W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320961	NM_015148.4(PASK):c.727G>T (p.Ala243Ser)	PASK (A243S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2328263	NM_015148.4(PASK):c.634C>T (p.Pro212Ser)	PASK (P212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464360	NM_015148.4(PASK):c.577G>T (p.Ala193Ser)	PASK (A193S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264087	NM_015148.4(PASK):c.577G>A (p.Ala193Thr)	PASK (A193T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264006	NM_015148.4(PASK):c.550G>C (p.Glu184Gln)	PASK (E184Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372666	NM_015148.4(PASK):c.407C>T (p.Thr136Met)	PASK (T136M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341569	NM_015148.4(PASK):c.307G>A (p.Gly103Ser)	PASK (G103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305563	NM_015148.4(PASK):c.241A>C (p.Asn81His)	PASK (N81H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241775	NM_015148.4(PASK):c.39G>C (p.Gln13His)	PASK (Q13H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 55