LPCAT4[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 150413	GRCh38/hg38 15q14(chr15:34334908-34671997)x1	GOLGA8A, GOLGA8B +28 more	Copy number loss	See cases	GLikely benign
Select item 149673	GRCh38/hg38 15q14(chr15:34334908-34549221)x1	GOLGA8A, GOLGA8B +21 more	Copy number loss	See cases	GLikely benign
Select item 149672	GRCh38/hg38 15q14(chr15:34334908-34549221)x3	GOLGA8A, GOLGA8B +21 more	Copy number gain	See cases	GLikely benign
Select item 3119745	NM_153613.3(LPCAT4):c.1454C>G (p.Thr485Ser)	LPCAT4 (T485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334022	NM_153613.3(LPCAT4):c.1409A>G (p.Gln470Arg)	LPCAT4 (Q470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331465	NM_153613.3(LPCAT4):c.1400G>C (p.Cys467Ser)	LPCAT4 (C467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605379	NM_153613.3(LPCAT4):c.1342G>A (p.Ala448Thr)	LPCAT4 (A448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356189	NM_153613.3(LPCAT4):c.1333C>T (p.His445Tyr)	LPCAT4 (H445Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243730	NM_153613.3(LPCAT4):c.1304C>A (p.Thr435Asn)	LPCAT4 (T435N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208436	NM_153613.3(LPCAT4):c.1304C>G (p.Thr435Ser)	LPCAT4 (T435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119744	NM_153613.3(LPCAT4):c.1303A>G (p.Thr435Ala)	LPCAT4 (T435A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473723	NM_153613.3(LPCAT4):c.1294G>A (p.Gly432Ser)	LPCAT4 (G432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119743	NM_153613.3(LPCAT4):c.1201G>T (p.Gly401Trp)	LPCAT4 (G401W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119741	NM_153613.3(LPCAT4):c.1039G>T (p.Ala347Ser)	LPCAT4 (A347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291167	NM_153613.3(LPCAT4):c.1033G>C (p.Ala345Pro)	LPCAT4 (A345P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119740	NM_153613.3(LPCAT4):c.1001G>C (p.Arg334Pro)	LPCAT4 (R334P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332789	NM_153613.3(LPCAT4):c.1001G>A (p.Arg334Gln)	LPCAT4 (R334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411126	NM_153613.3(LPCAT4):c.1000C>T (p.Arg334Trp)	LPCAT4 (R334W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291169	NM_153613.3(LPCAT4):c.819C>A (p.His273Gln)	LPCAT4 (H273Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457961	NM_153613.3(LPCAT4):c.694C>A (p.Arg232Ser)	LPCAT4 (R232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119751	NM_153613.3(LPCAT4):c.664G>A (p.Ala222Thr)	LPCAT4 (A222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612962	NM_153613.3(LPCAT4):c.552G>C (p.Glu184Asp)	LPCAT4 (E184D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273239	NM_153613.3(LPCAT4):c.490T>C (p.Phe164Leu)	LPCAT4 (F164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119750	NM_153613.3(LPCAT4):c.436G>A (p.Val146Ile)	LPCAT4 (V146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119749	NM_153613.3(LPCAT4):c.406A>C (p.Ile136Leu)	LPCAT4 (I136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614323	NM_153613.3(LPCAT4):c.406A>G (p.Ile136Val)	LPCAT4 (I136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336580	NM_153613.3(LPCAT4):c.367G>C (p.Val123Leu)	LPCAT4 (V123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119748	NM_153613.3(LPCAT4):c.353G>T (p.Arg118Leu)	LPCAT4 (R118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291168	NM_153613.3(LPCAT4):c.335G>A (p.Arg112His)	LPCAT4 (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119747	NM_153613.3(LPCAT4):c.328C>T (p.Arg110Cys)	LPCAT4 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119746	NM_153613.3(LPCAT4):c.211G>C (p.Gly71Arg)	LPCAT4 (G71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291170	NM_153613.3(LPCAT4):c.145A>T (p.Ile49Phe)	LPCAT4 (I49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232813	NM_153613.3(LPCAT4):c.64C>A (p.Pro22Thr)	LOC130056753, LPCAT4 (P22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2427227	NC_000015.9:g.(?_34526072)_(35087019_?)del	ACTC1, GJD2 +6 more	Deletion	not provided	GPathogenic
Select item 2425304	NC_000015.9:g.(?_34526082)_(35087009_?)del	ACTC1, GJD2 +6 more	Deletion	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394689	GRCh37/hg19 15q13.3-14(chr15:32908373-34659183)x3	ARHGAP11A, AVEN +12 more	Copy number gain	See cases	GUncertain significance

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Items: 63