PLAAT1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 3214236	NM_020386.5(PLAAT1):c.4G>A (p.Ala2Thr)	PLAAT1 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214237	NM_020386.5(PLAAT1):c.73C>T (p.Arg25Cys)	PLAAT1 (R25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307240	NM_020386.5(PLAAT1):c.112G>A (p.Gly38Ser)	PLAAT1 (G38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214227	NM_020386.5(PLAAT1):c.217G>T (p.Asp73Tyr)	PLAAT1 (D73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214228	NM_020386.5(PLAAT1):c.257A>G (p.Tyr86Cys)	PLAAT1 (Y86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214230	NM_020386.5(PLAAT1):c.274C>T (p.Pro92Ser)	PLAAT1 (P92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490236	NM_020386.5(PLAAT1):c.302G>A (p.Arg101Gln)	PLAAT1 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786508	NM_020386.5(PLAAT1):c.303G>A (p.Arg101=)	PLAAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3214231	NM_020386.5(PLAAT1):c.304T>C (p.Ser102Pro)	PLAAT1 (S102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214232	NM_020386.5(PLAAT1):c.371C>G (p.Thr124Arg)	PLAAT1 (T124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214233	NM_020386.5(PLAAT1):c.379C>T (p.Arg127Cys)	PLAAT1 (R127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214234	NM_020386.5(PLAAT1):c.427G>A (p.Val143Ile)	PLAAT1 (V143I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214235	NM_020386.5(PLAAT1):c.498A>C (p.Lys166Asn)	PLAAT1 (K166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783316	NM_198505.4(ATP13A5):c.3653del (p.Leu1218fs)	ATP13A5, PLAAT1 (L1218fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2555721	NM_198505.4(ATP13A5):c.3643T>C (p.Trp1215Arg)	ATP13A5, PLAAT1 (W1215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131452	NM_198505.4(ATP13A5):c.3590A>G (p.Gln1197Arg)	ATP13A5, PLAAT1 (Q1197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131451	NM_198505.4(ATP13A5):c.3558C>G (p.Phe1186Leu)	ATP13A5, PLAAT1 (F1186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131450	NM_198505.4(ATP13A5):c.3521A>G (p.Asn1174Ser)	ATP13A5, PLAAT1 (N1174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245852	NM_198505.4(ATP13A5):c.3452T>G (p.Phe1151Cys)	ATP13A5, PLAAT1 (F1151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240555	NM_198505.4(ATP13A5):c.3391G>A (p.Val1131Ile)	ATP13A5, PLAAT1 (V1131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403498	NM_198505.4(ATP13A5):c.3376T>C (p.Cys1126Arg)	ATP13A5, PLAAT1 (C1126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328289	NM_198505.4(ATP13A5):c.3271T>C (p.Phe1091Leu)	ATP13A5, PLAAT1 (F1091L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259050	NM_198505.4(ATP13A5):c.3248T>C (p.Leu1083Pro)	ATP13A5, PLAAT1 (L1083P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1527068	GRCh37/hg19 3q29(chr3:192607378-194745252)	ATP13A3, ATP13A4 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 393824	GRCh37/hg19 3q28-29(chr3:192266490-193816606)x3	OPA1, PLAAT1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253860	GRCh37/hg19 3q28-29(chr3:191413759-193081037)x1	MB21D2, PLAAT1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 60