ClinVar for Gene (Select 130540) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095379	NM_001127391.3(FLACC1):c.943-30G>C	FLACC1 (D328H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095378	NM_001127391.3(FLACC1):c.89G>T (p.Arg30Leu)	FLACC1 (R30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095377	NM_001127391.3(FLACC1):c.89G>A (p.Arg30His)	FLACC1 (R30H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3095376	NM_001127391.3(FLACC1):c.875A>T (p.Lys292Met)	FLACC1 (K292M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095375	NM_001127391.3(FLACC1):c.871G>A (p.Glu291Lys)	FLACC1 (E291K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095374	NM_001127391.3(FLACC1):c.865A>G (p.Ile289Val)	FLACC1 (I289V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095373	NM_001127391.3(FLACC1):c.552A>C (p.Glu184Asp)	FLACC1 (E184D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095372	NM_001127391.3(FLACC1):c.40C>T (p.Pro14Ser)	FLACC1 (P14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095371	NM_001127391.3(FLACC1):c.345C>G (p.Ile115Met)	FLACC1 (I115M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095370	NM_001127391.3(FLACC1):c.336A>T (p.Glu112Asp)	FLACC1 (E112D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095369	NM_001127391.3(FLACC1):c.272G>A (p.Arg91Gln)	FLACC1 (R91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095368	NM_001127391.3(FLACC1):c.163A>G (p.Thr55Ala)	FLACC1 (T55A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095367	NM_001127391.3(FLACC1):c.1244G>A (p.Gly415Asp)	FLACC1 (G438D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095366	NM_001127391.3(FLACC1):c.1241A>C (p.Asp414Ala)	FLACC1 (D414A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095365	NM_001127391.3(FLACC1):c.1210G>C (p.Val404Leu)	FLACC1 (V427L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095364	NM_001127391.3(FLACC1):c.1184G>A (p.Cys395Tyr)	FLACC1 (C395Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3095363	NM_001127391.3(FLACC1):c.1090G>A (p.Glu364Lys)	FLACC1 (E364K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095362	NM_001127391.3(FLACC1):c.1081G>A (p.Glu361Lys)	FLACC1 (E384K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095361	NM_001127391.3(FLACC1):c.1039A>G (p.Ile347Val)	FLACC1 (I347V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095360	NM_001127391.3(FLACC1):c.961C>T (p.His321Tyr)	FLACC1 (H321Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2651817	NM_001127391.3(FLACC1):c.135T>C (p.Ala45=)	FLACC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619159	NM_001127391.3(FLACC1):c.97T>C (p.Ser33Pro)	FLACC1 (S33P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608802	NM_001127391.3(FLACC1):c.1256G>A (p.Gly419Glu)	FLACC1 (G442E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588601	NM_001127391.3(FLACC1):c.983A>G (p.Glu328Gly)	FLACC1 (E351G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2564048	NM_001127391.3(FLACC1):c.72G>C (p.Lys24Asn)	FLACC1 (K24N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526749	NM_001127391.3(FLACC1):c.997A>G (p.Asn333Asp)	FLACC1 (N333D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521805	NM_001127391.3(FLACC1):c.296C>G (p.Thr99Ser)	FLACC1 (T99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519259	NM_001127391.3(FLACC1):c.278G>C (p.Arg93Pro)	FLACC1 (R93P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484617	NM_001127391.3(FLACC1):c.1252A>G (p.Lys418Glu)	FLACC1 (K418E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460765	NM_001127391.3(FLACC1):c.1075T>C (p.Phe359Leu)	FLACC1 (F382L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2458422	NM_001127391.3(FLACC1):c.588G>C (p.Leu196Phe)	FLACC1 (L196F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454901	NM_001127391.3(FLACC1):c.668C>T (p.Thr223Met)	FLACC1 (T223M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1704349	GRCh37/hg19 2q33.1(chr2:201838259-202711243)x3	ALS2, C2CD6 +11 more	Copy number gain	CYSTIC HYGROMA, VSD	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	C2CD6, CASP8 +25 more	Deletion	Immunodeficiency, common variable, 1 +2 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979397	GRCh37/hg19 2q33.1(chr2:202011822-202749788)x1	ALS2, C2CD6 +9 more	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402494	NM_001127391.3(FLACC1):c.1122G>A (p.Thr374=)	FLACC1, CASP8	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65