TF[gene] - ClinVar - NCBI

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	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 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 343419	NM_001063.3(TF):c.-117G>A	TF	Single nucleotide variant (intron variant)	Atransferrinemia	GUncertain significance
Select item 343420	NM_001063.3(TF):c.-84G>T	TF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 343421	NM_001063.3(TF):c.-65G>C	TF	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 900514	NM_001063.4(TF):c.-18C>T	TF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 343422	NM_001063.4(TF):c.-2A>G	TF	Single nucleotide variant (5 prime UTR variant +1 more)	Atransferrinemia +1 more	GBenign
Select item 2825536	NM_001063.4(TF):c.6G>A (p.Arg2=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 748821	NM_001063.4(TF):c.9C>T (p.Leu3=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2818246	NM_001063.4(TF):c.12C>T (p.Ala4=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2749703	NM_001063.4(TF):c.24G>T (p.Leu8=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1672652	NM_001063.4(TF):c.25C>T (p.Leu9=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2772546	NM_001063.4(TF):c.36C>T (p.Ala12=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 735968	NM_001063.4(TF):c.43+8C>A	TF	Single nucleotide variant (intron variant)	Atransferrinemia +1 more	GConflicting classifications of pathogenicity
Select item 2976208	NM_001063.4(TF):c.43+9G>C	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985879	NM_001063.4(TF):c.43+15G>A	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978927	NM_001063.4(TF):c.43+15G>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878225	NM_001063.4(TF):c.43+15G>C	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955862	NM_001063.4(TF):c.44-14C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848160	NM_001063.4(TF):c.44-11C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827992	NM_001063.4(TF):c.44-8dup	TF	Duplication (intron variant)	not provided	GLikely benign
Select item 2955450	NM_001063.4(TF):c.44-4_44-3del	TF	Deletion (intron variant)	not provided	GLikely benign
Select item 2808519	NM_001063.4(TF):c.44-6C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871126	NM_001063.4(TF):c.44-4C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732348	NM_001063.4(TF):c.44-4C>G	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835846	NM_001063.4(TF):c.54G>A (p.Leu18=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2987412	NM_001063.4(TF):c.60C>G (p.Val20=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2770124	NM_001063.4(TF):c.60C>A (p.Val20=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 343423	NM_001063.4(TF):c.60C>T (p.Val20=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2873960	NM_001063.4(TF):c.63T>C (p.Pro21=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2555760	NM_001063.4(TF):c.68A>T (p.Lys23Ile)	TF (K23I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2804233	NM_001063.4(TF):c.72T>C (p.Thr24=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2969778	NM_001063.4(TF):c.93G>A (p.Ser31=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2968962	NM_001063.4(TF):c.105C>T (p.Ala35=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3242060	NM_001063.4(TF):c.113G>A (p.Cys38Tyr)	TF (C38Y)	Single nucleotide variant (missense variant +2 more)	Atransferrinemia	GUncertain significance
Select item 343424	NM_001063.4(TF):c.119G>A (p.Ser40Asn)	TF (S40N)	Single nucleotide variant (missense variant +2 more)	Atransferrinemia +1 more	GConflicting classifications of pathogenicity
Select item 1900205	NM_001063.4(TF):c.125G>A (p.Arg42His)	TF (R42H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 716527	NM_001063.4(TF):c.125G>T (p.Arg42Leu)	TF (R42L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2777473	NM_001063.4(TF):c.126C>T (p.Arg42=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2781414	NM_001063.4(TF):c.141C>T (p.Ser47=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 343425	NM_001063.4(TF):c.142G>A (p.Val48Ile)	TF (V48I +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 2897424	NM_001063.4(TF):c.153C>T (p.Ser51=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 343426	NM_001063.4(TF):c.154G>A (p.Asp52Asn)	TF (D52N +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 902171	NM_001063.4(TF):c.165T>A (p.Ser55Arg)	TF (S11R +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 2694580	NM_001063.4(TF):c.168T>C (p.Val56=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 632401	NM_001063.4(TF):c.174T>A (p.Cys58Ter)	TF (C58* +1 more)	Single nucleotide variant (nonsense +1 more)	Atransferrinemia	GUncertain significance
Select item 2722720	NM_001063.4(TF):c.177G>A (p.Val59=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777171	NM_001063.4(TF):c.195T>C (p.Leu65=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3325582	NM_001063.4(TF):c.212T>C (p.Ile71Thr)	TF (I71T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 902172	NM_001063.4(TF):c.215C>T (p.Ala72Val)	TF (A72V +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia +1 more	GUncertain significance
Select item 1386092	NM_001063.4(TF):c.216G>A (p.Ala72=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2768089	NM_001063.4(TF):c.216+7C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914778	NM_001063.4(TF):c.216+8G>A	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772263	NM_001063.4(TF):c.216+11G>A	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 343427	NM_001063.4(TF):c.216+14G>C	TF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2956803	NM_001063.4(TF):c.216+16C>T	TF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023457	NM_001063.4(TF):c.216+18A>G	TF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2984418	NM_001063.4(TF):c.216+19A>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933453	NM_001063.4(TF):c.216+19A>G	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866144	NM_001063.4(TF):c.217-15C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779725	NM_001063.4(TF):c.217-14C>A	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955138	NM_001063.4(TF):c.217-13T>C	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770244	NM_001063.4(TF):c.217-12G>C	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021978	NM_001063.4(TF):c.217-9C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907727	NM_001063.4(TF):c.217-5_217-4insG	TF	Insertion (intron variant)	not provided	GLikely benign
Select item 2885355	NM_001063.4(TF):c.217-5T>C	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737142	NM_001063.4(TF):c.222C>T (p.Asn74=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2470348	NM_001063.4(TF):c.223G>A (p.Glu75Lys)	TF (E31K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 902173	NM_001063.4(TF):c.227C>T (p.Ala76Val)	TF (A32V +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia +1 more	GLikely benign
Select item 2734850	NM_001063.4(TF):c.228G>T (p.Ala76=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 343428	NM_001063.4(TF):c.228G>A (p.Ala76=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12621	NM_001063.4(TF):c.229G>A (p.Asp77Asn)	TF (D77N +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GPathogenic
Select item 2974454	NM_001063.4(TF):c.240A>G (p.Thr80=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906256	NM_001063.4(TF):c.243G>T (p.Leu81=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2788177	NM_001063.4(TF):c.243G>A (p.Leu81=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004404	NM_001063.4(TF):c.252T>C (p.Gly84=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900809	NM_001063.4(TF):c.258G>A (p.Val86=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 903053	NM_001063.4(TF):c.281A>G (p.Asn94Ser)	TF (N94S +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 2997317	NM_001063.4(TF):c.285C>T (p.Asn95=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964421	NM_001063.4(TF):c.300G>A (p.Val100=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957857	NM_001063.4(TF):c.306G>A (p.Glu102=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 903054	NM_001063.4(TF):c.311A>G (p.Tyr104Cys)	TF (Y104C +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 2991474	NM_001063.4(TF):c.318A>G (p.Ser106=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991214	NM_001063.4(TF):c.318A>C (p.Ser106=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2765948	NM_001063.4(TF):c.325+8C>A	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748757	NM_001063.4(TF):c.325+8C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790625	NM_001063.4(TF):c.325+16G>A	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764383	NM_001063.4(TF):c.325+18C>T	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845294	NM_001063.4(TF):c.326-17A>G	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771277	NM_001063.4(TF):c.326-12G>A	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781646	NM_001063.4(TF):c.326-8C>G	TF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 343429	NM_001063.4(TF):c.333G>A (p.Gln111=)	TF	Single nucleotide variant (synonymous variant +1 more)	Atransferrinemia +1 more	GBenign/Likely benign
Select item 343430	NM_001063.4(TF):c.334A>G (p.Thr112Ala)	TF (T112A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2822918	NM_001063.4(TF):c.342T>C (p.Tyr114=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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