FAIM[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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 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 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 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 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 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 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 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 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 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 57795	GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3	ARMC8, CEP70 +24 more	Copy number gain	See cases	GUncertain significance
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 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 2459992	NM_001033031.2(FAIM):c.79G>A (p.Val27Ile)	FAIM (V27I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544114	NM_001033031.2(FAIM):c.112G>T (p.Val38Phe)	FAIM (V38F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277073	NM_001033031.2(FAIM):c.203T>A (p.Phe68Tyr)	FAIM (F46Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539704	NM_001033031.2(FAIM):c.212T>C (p.Val71Ala)	FAIM (V71A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368930	NM_001033031.2(FAIM):c.215G>T (p.Gly72Val)	FAIM (G72V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277072	NM_001033031.2(FAIM):c.367G>T (p.Val123Leu)	FAIM (V135L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264426	NM_001033031.2(FAIM):c.401T>G (p.Val134Gly)	FAIM (V146G +2 more)	Single nucleotide variant (missense variant)	not specified	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 2391799	NM_001033031.2(FAIM):c.424G>A (p.Val142Ile)	FAIM (V154I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530853	NM_001033031.2(FAIM):c.470A>G (p.Asp157Gly)	FAIM (D135G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258073	NM_001033031.2(FAIM):c.481G>A (p.Glu161Lys)	FAIM (E161K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481769	NM_001033031.2(FAIM):c.506A>G (p.His169Arg)	FAIM (H147R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612875	NM_001033031.2(FAIM):c.515A>C (p.Tyr172Ser)	FAIM (Y172S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233419	NM_001033031.2(FAIM):c.519A>G (p.Ile173Met)	FAIM (I173M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367768	NM_001033031.2(FAIM):c.542G>A (p.Arg181Gln)	FAIM (R159Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091614	NM_001033031.2(FAIM):c.562A>G (p.Thr188Ala)	FAIM (T188A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091615	NM_001033031.2(FAIM):c.581G>C (p.Arg194Thr)	FAIM (R206T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2426786	NC_000003.11:g.(?_137781658)_(138665815_?)del	A4GNT, ARMC8 +9 more	Deletion	not provided	GPathogenic
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 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	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

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Items: 48