SOAT1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 2228061	NM_003101.6(SOAT1):c.18G>T (p.Lys6Asn)	SOAT1 (K6N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2363581	NM_003101.6(SOAT1):c.25C>G (p.Leu9Val)	SOAT1 (L9V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2268488	NM_003101.6(SOAT1):c.85C>T (p.Pro29Ser)	SOAT1 (P29S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167363	NM_003101.6(SOAT1):c.97T>A (p.Ser33Thr)	SOAT1 (S33T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 746440	NM_003101.6(SOAT1):c.105G>A (p.Glu35=)	SOAT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3167359	NM_003101.6(SOAT1):c.155T>C (p.Ile52Thr)	SOAT1 (I52T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167360	NM_003101.6(SOAT1):c.311A>G (p.Lys104Arg)	SOAT1 (K104R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245647	NM_003101.6(SOAT1):c.352C>A (p.Gln118Lys)	SOAT1 (Q53K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478453	NM_003101.6(SOAT1):c.479A>G (p.Asp160Gly)	SOAT1 (D102G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410770	NM_003101.6(SOAT1):c.550G>A (p.Val184Ile)	SOAT1 (V119I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319838	NM_003101.6(SOAT1):c.556T>G (p.Trp186Gly)	SOAT1 (W128G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767731	NM_003101.6(SOAT1):c.579G>A (p.Leu193=)	SOAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2222740	NM_003101.6(SOAT1):c.581C>G (p.Ser194Cys)	SOAT1 (S194C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780280	NM_003101.6(SOAT1):c.610C>G (p.Gln204Glu)	SOAT1 (Q146E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 767732	NM_003101.6(SOAT1):c.648G>A (p.Pro216=)	SOAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3167361	NM_003101.6(SOAT1):c.655C>T (p.Arg219Cys)	SOAT1 (R154C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483477	NM_003101.6(SOAT1):c.794T>C (p.Met265Thr)	SOAT1 (M265T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167362	NM_003101.6(SOAT1):c.836T>C (p.Leu279Pro)	SOAT1 (L214P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773819	NM_003101.6(SOAT1):c.855A>G (p.Lys285=)	SOAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2215259	NM_003101.6(SOAT1):c.857C>T (p.Ser286Leu)	SOAT1 (S228L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495282	NM_003101.6(SOAT1):c.877A>G (p.Thr293Ala)	SOAT1 (T235A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352899	NM_003101.6(SOAT1):c.973A>G (p.Met325Val)	SOAT1 (M260V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530983	NM_003101.6(SOAT1):c.1029G>C (p.Arg343Ser)	SOAT1 (R285S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167356	NM_003101.6(SOAT1):c.1124T>C (p.Leu375Pro)	SOAT1 (L317P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213345	NM_003101.6(SOAT1):c.1181A>T (p.Glu394Val)	SOAT1 (E329V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254793	NM_003101.6(SOAT1):c.1249T>G (p.Tyr417Asp)	SOAT1 (Y417D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167357	NM_003101.6(SOAT1):c.1366T>C (p.Ser456Pro)	SOAT1 (S391P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167358	NM_003101.6(SOAT1):c.1372G>A (p.Val458Ile)	SOAT1 (V400I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519601	NM_003101.6(SOAT1):c.1640G>A (p.Arg547His)	SOAT1 (R489H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611085	NM_003101.6(SOAT1):c.1645G>A (p.Val549Met)	SOAT1 (V484M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 565201	GRCh37/hg19 1q25.2(chr1:178892713-179557557)x3	NPHS2, ABL2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 57