AGPAT4[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	C6orf118, C6orf120 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +297 more	Copy number loss	See cases	GPathogenic
Select item 155288	GRCh38/hg38 6q26(chr6:160892889-161535434)x3	LOC105378098, LOC113174971 +25 more	Copy number gain	See cases	GUncertain significance
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	GPathogenic
Select item 157033	NC_000006.12:g.160931666_161145877dup	AGPAT4, LOC102724087 +12 more	Duplication	Normal pregnancy	Gnot provided
Select item 2554532	NM_020133.3(AGPAT4):c.904C>T (p.Pro302Ser)	AGPAT4 (P302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569848	NM_020133.3(AGPAT4):c.895A>G (p.Met299Val)	AGPAT4 (M299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518535	NM_020133.3(AGPAT4):c.872C>T (p.Thr291Met)	AGPAT4 (T291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354751	NM_020133.3(AGPAT4):c.805G>A (p.Glu269Lys)	AGPAT4 (E269K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469947	NM_020133.3(AGPAT4):c.772A>T (p.Ile258Phe)	AGPAT4 (I258F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539079	NM_020133.3(AGPAT4):c.748C>G (p.His250Asp)	AGPAT4 (H250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411094	NM_020133.3(AGPAT4):c.457A>C (p.Lys153Gln)	AGPAT4 (K153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290927	NM_020133.3(AGPAT4):c.418G>A (p.Glu140Lys)	AGPAT4 (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096448	NM_020133.3(AGPAT4):c.128A>C (p.Lys43Thr)	AGPAT4 (K43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244954	NM_020133.3(AGPAT4):c.58G>C (p.Val20Leu)	AGPAT4 (V20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146608	GRCh38/hg38 6q26(chr6:161232208-161348695)x3	AGPAT4, LOC121132713 +3 more	Copy number gain	See cases	GBenign
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527318	GRCh37/hg19 6q25.3-26(chr6:160778308-161898925)	AGPAT4, LPA +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 979591	GRCh37/hg19 6q26(chr6:161593323-161814295)x3	AGPAT4, PRKN	Copy number gain	not provided	GUncertain significance
Select item 979587	GRCh37/hg19 6q26(chr6:161069025-161747332)x3	LPA, PLG +2 more	Copy number gain	not provided	GUncertain significance
Select item 563246	GRCh37/hg19 6q25.3-26(chr6:160524800-161855470)x3	SLC22A3, SLC22A2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 393794	GRCh37/hg19 6q26(chr6:161381865-161557137)x3	AGPAT4, MAP3K4	Copy number gain	See cases	GUncertain significance
Select item 253818	GRCh37/hg19 6q26(chr6:161625929-161812380)x4	AGPAT4, PRKN	Copy number gain	See cases	GUncertain significance

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Items: 45