ClinVar for Gene (Select 401089) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279624	NM_001040061.3(FOXL2NB):c.511C>T (p.Leu171Phe)	FOXL2NB (L171F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279623	NM_001040061.3(FOXL2NB):c.293A>G (p.Lys98Arg)	FOXL2NB (K98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279622	NM_001040061.3(FOXL2NB):c.151A>T (p.Arg51Trp)	FOXL2NB (R51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096485	NM_001040061.3(FOXL2NB):c.321C>A (p.Ser107Arg)	FOXL2NB (S107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2552935	NM_001040061.3(FOXL2NB):c.352G>A (p.Ala118Thr)	FOXL2NB (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546376	NM_001040061.3(FOXL2NB):c.296G>T (p.Arg99Leu)	FOXL2NB (R99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376795	NM_001040061.3(FOXL2NB):c.85T>G (p.Ser29Ala)	FOXL2NB (S29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371330	NM_001040061.3(FOXL2NB):c.404C>T (p.Pro135Leu)	FOXL2NB (P135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352389	NM_001040061.3(FOXL2NB):c.380C>T (p.Pro127Leu)	FOXL2NB (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348059	NM_001040061.3(FOXL2NB):c.92G>C (p.Arg31Pro)	FOXL2NB (R31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286927	NM_001040061.3(FOXL2NB):c.346T>G (p.Ser116Ala)	FOXL2NB (S116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267567	NM_001040061.3(FOXL2NB):c.500G>T (p.Ser167Ile)	FOXL2NB (S167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261116	NM_001040061.3(FOXL2NB):c.301G>A (p.Gly101Ser)	FOXL2NB (G101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243263	NM_001040061.3(FOXL2NB):c.302G>A (p.Gly101Asp)	FOXL2NB (G101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1411280	NC_000003.11:g.(?_137781658)_(139258560_?)dup	A4GNT, ARMC8 +17 more	Duplication	not provided	GUncertain significance
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814482	GRCh37/hg19 3q22.3(chr3:138203261-138669628)x3	FOXL2, CEP70 +3 more	Copy number gain	not provided	GLikely benign
Select item 687625	GRCh37/hg19 3q22.3-23(chr3:138220588-138777135)x3	CEP70, FAIM +6 more	Copy number gain	not provided	GUncertain significance
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 685423	GRCh37/hg19 3q22.3-23(chr3:138253995-138769278)x3	CEP70, FAIM +6 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 562821	GRCh37/hg19 3q22.3-23(chr3:138525030-139146538)x1	FOXL2NB, PRR23A +5 more	Copy number loss	not provided	GPathogenic
Select item 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	GUncertain significance
Select item 442405	GRCh37/hg19 3q22.3-23(chr3:138413416-139096053)x3	COPB2, FOXL2 +6 more	Copy number gain	See cases	GUncertain significance
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 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic
Select item 155613	GRCh38/hg38 3q22.3-23(chr3:138468173-139001141)x3	CEP70, ESYT3 +19 more	Copy number gain	See cases	GLikely benign
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 148956	GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3	CEP70, FAIM +22 more	Copy number gain	See cases	GUncertain significance
Select item 148711	GRCh38/hg38 3q22.3-23(chr3:138529348-139130105)x3	BPESC1, CEP70 +23 more	Copy number gain	See cases	GUncertain significance
Select item 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 57795	GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3	ARMC8, CEP70 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57081	GRCh38/hg38 3q22.3(chr3:138946408-138948348)x1	FOXL2, FOXL2NB	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48