LPIN3[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 148371	GRCh38/hg38 20q12(chr20:41254206-41853686)x3	CHD6, EMILIN3 +19 more	Copy number gain	See cases	GLikely benign
Select item 2652325	NM_022896.3(LPIN3):c.24G>A (p.Ala8=)	LPIN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 781901	NM_022896.3(LPIN3):c.59G>A (p.Arg20Gln)	LPIN3 (R20Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3291183	NM_022896.3(LPIN3):c.84C>G (p.Ser28Arg)	LPIN3 (S28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341408	NM_022896.3(LPIN3):c.97G>A (p.Val33Met)	LPIN3 (V33M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652326	NM_022896.3(LPIN3):c.141C>G (p.Pro47=)	LPIN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3119773	NM_022896.3(LPIN3):c.148G>C (p.Val50Leu)	LPIN3 (V50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291181	NM_022896.3(LPIN3):c.152G>A (p.Arg51His)	LPIN3 (R51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387607	NM_022896.3(LPIN3):c.169G>A (p.Val57Ile)	LPIN3 (V57I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335556	NM_022896.3(LPIN3):c.257C>A (p.Ala86Asp)	LPIN3 (A86D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468950	NM_022896.3(LPIN3):c.331G>C (p.Gly111Arg)	LPIN3 (G111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589618	NM_022896.3(LPIN3):c.394G>A (p.Val132Ile)	LPIN3 (V132I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119783	NM_022896.3(LPIN3):c.407C>T (p.Thr136Met)	LPIN3 (T136M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2652327	NM_022896.3(LPIN3):c.421_434del (p.Arg141fs)	LPIN3 (R141fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3291184	NM_022896.3(LPIN3):c.432G>C (p.Arg144Ser)	LPIN3 (R144S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593646	NM_022896.3(LPIN3):c.434G>A (p.Arg145His)	LPIN3 (R145H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119784	NM_022896.3(LPIN3):c.437G>T (p.Arg146Leu)	LPIN3 (R146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514000	NM_022896.3(LPIN3):c.437G>A (p.Arg146His)	LPIN3 (R146H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652328	NM_022896.3(LPIN3):c.558T>C (p.Gly186=)	LPIN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2272425	NM_022896.3(LPIN3):c.664C>T (p.Pro222Ser)	LPIN3 (P223S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119785	NM_022896.3(LPIN3):c.683T>C (p.Leu228Pro)	LPIN3 (L229P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119786	NM_022896.3(LPIN3):c.692G>A (p.Arg231Gln)	LPIN3 (R231Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291180	NM_022896.3(LPIN3):c.698C>T (p.Pro233Leu)	LPIN3 (P233L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291186	NM_022896.3(LPIN3):c.785C>T (p.Ser262Phe)	LPIN3 (S262F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489993	NM_022896.3(LPIN3):c.830G>C (p.Arg277Pro)	LPIN3 (R277P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412302	NM_022896.3(LPIN3):c.844A>C (p.Thr282Pro)	LPIN3 (T282P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234273	NM_022896.3(LPIN3):c.870C>T (p.Gly290=)	LPIN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2560421	NM_022896.3(LPIN3):c.916G>A (p.Asp306Asn)	LPIN3 (D307N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568504	NM_022896.3(LPIN3):c.946C>G (p.Leu316Val)	LPIN3 (L317V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287976	NM_022896.3(LPIN3):c.990G>T (p.Lys330Asn)	LPIN3 (K330N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3119770	NM_022896.3(LPIN3):c.1063G>T (p.Val355Phe)	LPIN3 (V355F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270159	NM_022896.3(LPIN3):c.1168G>T (p.Asp390Tyr)	LPIN3 (D391Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275209	NM_022896.3(LPIN3):c.1331G>A (p.Gly444Asp)	LPIN3 (G445D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393472	NM_022896.3(LPIN3):c.1352A>G (p.Asp451Gly)	LPIN3 (D451G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119772	NM_022896.3(LPIN3):c.1393C>A (p.Gln465Lys)	LPIN3 (Q465K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291179	NM_022896.3(LPIN3):c.1430C>T (p.Pro477Leu)	LPIN3 (P477L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603140	NM_022896.3(LPIN3):c.1492C>A (p.Leu498Ile)	LPIN3 (L498I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206228	NM_022896.3(LPIN3):c.1529G>C (p.Ser510Thr)	LPIN3 (S510T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778623	NM_022896.3(LPIN3):c.1615G>A (p.Glu539Lys)	LPIN3 (E539K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3291185	NM_022896.3(LPIN3):c.1738C>T (p.Pro580Ser)	LPIN3 (P580S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455156	NM_022896.3(LPIN3):c.1793C>T (p.Ser598Phe)	LPIN3 (S599F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119774	NM_022896.3(LPIN3):c.1795G>C (p.Asp599His)	LPIN3 (D599H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119775	NM_022896.3(LPIN3):c.1808G>A (p.Arg603His)	LPIN3 (R603H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119776	NM_022896.3(LPIN3):c.1849G>A (p.Val617Met)	LPIN3 (V617M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369100	NM_022896.3(LPIN3):c.1877G>A (p.Arg626His)	LPIN3 (R626H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291182	NM_022896.3(LPIN3):c.1905A>C (p.Lys635Asn)	LPIN3 (K635N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511095	NM_022896.3(LPIN3):c.1940G>A (p.Gly647Asp)	LPIN3 (G647D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119777	NM_022896.3(LPIN3):c.1978C>T (p.Pro660Ser)	LPIN3 (P660S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224666	NM_022896.3(LPIN3):c.1979C>T (p.Pro660Leu)	LPIN3 (P660L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652329	NM_022896.3(LPIN3):c.2040-162G>A	LPIN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2214198	NM_022896.3(LPIN3):c.2069C>T (p.Ala690Val)	LPIN3 (A691V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310810	NM_022896.3(LPIN3):c.2078T>C (p.Ile693Thr)	LPIN3 (I693T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393542	NM_022896.3(LPIN3):c.2104T>C (p.Tyr702His)	LPIN3 (Y702H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119778	NM_022896.3(LPIN3):c.2203G>A (p.Glu735Lys)	LPIN3 (E736K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119779	NM_022896.3(LPIN3):c.2230G>A (p.Ala744Thr)	LPIN3 (A745T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119780	NM_022896.3(LPIN3):c.2260C>G (p.Leu754Val)	LPIN3 (L754V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119781	NM_022896.3(LPIN3):c.2329G>T (p.Val777Leu)	LPIN3 (V777L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297095	NM_022896.3(LPIN3):c.2381T>C (p.Ile794Thr)	LPIN3 (I794T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652330	NM_022896.3(LPIN3):c.2436C>T (p.Val812=)	LPIN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2514953	NM_022896.3(LPIN3):c.2444T>C (p.Leu815Pro)	LPIN3 (L815P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507941	NM_022896.3(LPIN3):c.2462G>A (p.Arg821His)	LPIN3 (R821H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291178	NM_022896.3(LPIN3):c.2495A>G (p.Tyr832Cys)	LPIN3 (Y832C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560085	NM_022896.3(LPIN3):c.2515C>T (p.Arg839Trp)	LPIN3 (R839W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684906	GRCh37/hg19 20q12(chr20:39839780-40169949)x3	CHD6, EMILIN3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 69