PAFAH2[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2391912	NM_000437.4(PAFAH2):c.1162C>T (p.His388Tyr)	PAFAH2 (H388Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402790	NM_000437.4(PAFAH2):c.1136C>T (p.Pro379Leu)	PAFAH2 (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208009	NM_000437.4(PAFAH2):c.1063G>A (p.Ala355Thr)	PAFAH2 (A355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208008	NM_000437.4(PAFAH2):c.1057A>G (p.Met353Val)	PAFAH2 (M353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208007	NM_000437.4(PAFAH2):c.1051C>T (p.Arg351Trp)	PAFAH2 (R351W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208006	NM_000437.4(PAFAH2):c.1040A>G (p.Glu347Gly)	PAFAH2 (E347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208005	NM_000437.4(PAFAH2):c.1028A>G (p.Tyr343Cys)	PAFAH2 (Y343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303940	NM_000437.4(PAFAH2):c.983T>C (p.Ile328Thr)	PAFAH2 (I328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303943	NM_000437.4(PAFAH2):c.875A>G (p.Asn292Ser)	PAFAH2 (N292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520524	NM_000437.4(PAFAH2):c.799C>T (p.Arg267Cys)	PAFAH2 (R267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313912	NM_000437.4(PAFAH2):c.605T>G (p.Val202Gly)	PAFAH2 (V202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303944	NM_000437.4(PAFAH2):c.604G>A (p.Val202Ile)	PAFAH2 (V202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592890	NM_000437.4(PAFAH2):c.583G>A (p.Val195Met)	PAFAH2 (V195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208011	NM_000437.4(PAFAH2):c.526A>G (p.Lys176Glu)	PAFAH2 (K176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303945	NM_000437.4(PAFAH2):c.443A>G (p.Lys148Arg)	PAFAH2 (K148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303939	NM_000437.4(PAFAH2):c.415C>T (p.Arg139Trp)	PAFAH2 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303942	NM_000437.4(PAFAH2):c.383G>A (p.Gly128Asp)	PAFAH2 (G128D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303941	NM_000437.4(PAFAH2):c.367G>C (p.Glu123Gln)	PAFAH2 (E123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475730	NM_000437.4(PAFAH2):c.287C>G (p.Thr96Arg)	PAFAH2 (T96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256219	NM_000437.4(PAFAH2):c.275G>A (p.Gly92Asp)	PAFAH2 (G92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224989	NM_000437.4(PAFAH2):c.212G>A (p.Arg71His)	PAFAH2 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303946	NM_000437.4(PAFAH2):c.182G>A (p.Gly61Asp)	PAFAH2 (G61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208010	NM_000437.4(PAFAH2):c.164G>A (p.Arg55His)	PAFAH2 (R55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469537	NM_000437.4(PAFAH2):c.163C>T (p.Arg55Cys)	PAFAH2 (R55C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287830	NM_000437.4(PAFAH2):c.70A>T (p.Met24Leu)	PAFAH2 (M24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277616	NM_000437.4(PAFAH2):c.53T>C (p.Val18Ala)	PAFAH2 (V18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557282	NM_000437.4(PAFAH2):c.7G>T (p.Val3Phe)	PAFAH2 (V3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 35