CFLAR[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	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 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 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 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	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 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 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 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 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 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 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 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 2558183	NM_003879.7(CFLAR):c.22C>G (p.Gln8Glu)	CFLAR (Q8E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2480008	NM_003879.7(CFLAR):c.58A>G (p.Met20Val)	CFLAR (M20V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2468002	NM_003879.7(CFLAR):c.354T>G (p.Asp118Glu)	CFLAR (D22E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454640	NM_003879.7(CFLAR):c.360G>A (p.Met120Ile)	CFLAR (M120I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214824	NM_003879.7(CFLAR):c.570C>G (p.Ile190Met)	CFLAR, CFLAR-AS1 (I190M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2619452	NM_003879.7(CFLAR):c.572A>C (p.Gln191Pro)	CFLAR, CFLAR-AS1 (Q95P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 783347	NM_003879.7(CFLAR):c.607C>A (p.Leu203Ile)	CFLAR, CFLAR-AS1 (L107I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2309532	NM_003879.7(CFLAR):c.659A>T (p.Gln220Leu)	CFLAR, CFLAR-AS1 (Q220L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2268192	NM_003879.7(CFLAR):c.944G>A (p.Arg315Gln)	CFLAR (R219Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143839	NM_003879.7(CFLAR):c.1021A>G (p.Met341Val)	CFLAR (M341V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307107	NM_003879.7(CFLAR):c.1099C>G (p.Leu367Val)	CFLAR (L332V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773850	NM_003879.7(CFLAR):c.1125G>A (p.Val375=)	CFLAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2382687	NM_003879.7(CFLAR):c.1145A>G (p.Asn382Ser)	CFLAR (N137S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3143840	NM_003879.7(CFLAR):c.1190G>C (p.Arg397Pro)	CFLAR (R152P +3 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 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Immunodeficiency, common variable, 1 +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	CARF, NOP58 +25 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +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 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 562557	GRCh37/hg19 2q33.1(chr2:201762531-202028909)x3	NIF3L1, NDUFB3 +3 more	Copy number gain	not provided	GUncertain significance
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 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49